From 18df4a5e46037331cc6cd48f1cf3868bcf4f4da8 Mon Sep 17 00:00:00 2001 From: Manuel Holtgrewe Date: Sun, 9 Jun 2024 11:47:26 +0200 Subject: [PATCH] fix: adjust to annonars clinvar_public cardinality changes (#209) (#210) Release-As: 0.7.0 --- .../clinvar_data/clinvar_public.proto | 31 +-- .../annonars/clinvar_data/gene_impact.proto | 2 + .../__snapshots__/client.spec.ts.snap | 18 +- .../SeqvarClinvarCard/SeqvarClinvarCard.vue | 23 +- .../StrucvarClinvarCard.vue | 32 +-- .../annonars/clinvar_data/clinvar_public.ts | 222 +++++++----------- src/pbs/google/protobuf/timestamp.ts | 18 +- .../geneInfo/__snapshots__/store.spec.ts.snap | 42 ---- 8 files changed, 121 insertions(+), 267 deletions(-) diff --git a/protos/annonars/clinvar_data/clinvar_public.proto b/protos/annonars/clinvar_data/clinvar_public.proto index 361708d..af98ce5 100644 --- a/protos/annonars/clinvar_data/clinvar_public.proto +++ b/protos/annonars/clinvar_data/clinvar_public.proto @@ -731,28 +731,21 @@ message Trait { /* nested elements */ - // names - // - // NB: in XSD this is explictely given as unbounded but XML always has - // one element + // Name(s) of the trait. repeated GenericSetElement names = 1; - // symbols (NB: never occur in the XML) - repeated GenericSetElement symbols = 2; - // attributes (NB: never occur in the XML) - repeated AttributeSetElement attributes = 3; // Citation list. - repeated Citation citations = 4; + repeated Citation citations = 2; // Xref list. - repeated Xref xrefs = 5; + repeated Xref xrefs = 3; // Comment list. - repeated Comment comments = 6; + repeated Comment comments = 4; // Sources - repeated string sources = 7; + repeated string sources = 5; /* attributes */ // Trait type. - Type type = 8; + Type type = 6; } // names @@ -985,7 +978,7 @@ message AggregateClassificationSet { // The aggregate germline classification. optional AggregatedGermlineClassification germline_classification = 1; // The aggregate somatic clinical impact. - repeated AggregatedSomaticClinicalImpact somatic_clinical_impacts = 2; + optional AggregatedSomaticClinicalImpact somatic_clinical_impact = 2; // The aggregate oncogenicity classification. optional AggregatedOncogenicityClassification oncogenicity_classification = 3; } @@ -1116,7 +1109,7 @@ message ClassificationScv { optional string germline_classification = 2; // Information on the clinical impact; mutually exlusive with `germline_classification` // and `oncogenicity_classification`. - optional SomaticClinicalImpact somatic_clinical_impacts = 3; + optional SomaticClinicalImpact somatic_clinical_impact = 3; // The oncogenicity classification; mutually exlusive with `germline_classification` // and `oncogenicity_classification`. optional string oncogenicity_classification = 4; @@ -1770,7 +1763,7 @@ message AlleleScv { // being reported. repeated Gene genes = 1; // Name provided by the submitter. - repeated OtherName names = 2; + OtherName name = 2; // Variant type. optional string variant_type = 3; // Location. @@ -1811,7 +1804,7 @@ message HaplotypeScv { // Names other than 'preferred' used for the haplotype. repeated OtherName other_names = 3; // Classification of the variant. - optional AggregateClassificationSet classification = 4; + optional AggregateClassificationSet classifications = 4; // Functional consequences of the variant. repeated FunctionalConsequence functional_consequences = 5; // List of attributes. @@ -2129,8 +2122,8 @@ message ClinicalAssertion { // Replaced list; mutually exclusive with replaces repeated ClinicalAssertionRecordHistory replaceds = 6; - // SCV classifications. - repeated ClassificationScv classifications = 7; + // SCV classification. + ClassificationScv classifications = 7; // The assertion. Assertion assertion = 8; // Attributes. diff --git a/protos/annonars/clinvar_data/gene_impact.proto b/protos/annonars/clinvar_data/gene_impact.proto index 70f8d15..a778b70 100644 --- a/protos/annonars/clinvar_data/gene_impact.proto +++ b/protos/annonars/clinvar_data/gene_impact.proto @@ -4,6 +4,8 @@ syntax = "proto3"; package annonars.clinvar_data.gene_impact; +import "annonars/clinvar_data/clinvar_public.proto"; + // Enumeration with the variant consequence. enum GeneImpact { // unspecified impact diff --git a/src/api/annonars/__snapshots__/client.spec.ts.snap b/src/api/annonars/__snapshots__/client.spec.ts.snap index fc1a332..05790e0 100644 --- a/src/api/annonars/__snapshots__/client.spec.ts.snap +++ b/src/api/annonars/__snapshots__/client.spec.ts.snap @@ -1,23 +1,11 @@ // Vitest Snapshot v1, https://vitest.dev/guide/snapshot.html -exports[`AnnonarsClient.fetchGeneClinvarInfo() > fails to fetch gene clinvar info with wrong HGNC id 1`] = `"{"perImpactCounts":[{"impact":1,"counts":[30,112,196,41,115]},{"impact":2,"counts":[47,376,244,33,275]},{"impact":4,"counts":[0,1,31,115,3883]},{"impact":5,"counts":[5,15,168,10,20]},{"impact":7,"counts":[1085,4679,3585,186,1701]},{"impact":8,"counts":[124,374,2202,158,212]},{"impact":9,"counts":[0,1,7,9,437]},{"impact":10,"counts":[1,0,1,1,12]},{"impact":12,"counts":[0,1,4,13,82]},{"impact":13,"counts":[0,0,7,10,87]},{"impact":15,"counts":[11,178,7,0,5]},{"impact":16,"counts":[4,0,0,0,0]}],"perFreqCounts":[{"coarseClinsig":1,"counts":[5712,0,0,0,0,317,87,101,133,133,113,122,31,18,24,279,3,0]},{"coarseClinsig":2,"counts":[6318,0,0,0,0,173,22,20,3,2,4,3,0,1,0,10,0,0]},{"coarseClinsig":3,"counts":[7934,0,0,0,0,35,0,3,0,0,0,0,0,0,0,0,0,0]}],"variants":[{"genomeRelease":"GRCh37","variants":[{"release":"GRCh37","chromosome":"17","start":41197708,"stop":41197708,"reference":"T","alternative":"G","vcv":"VCV000041833","referenceAssertions":[{"rcv":"RCV000034760","title":"NM_007294.4(BRCA1):c.5579A>C (p.His1860Pro) AND not provided","clinicalSignificance":5,"reviewStatus":6}]},{"release":"GRCh37","chromosome":"17","start":41234473,"stop":41234473,"reference":"G","alternative":"C","vcv":"VCV000182080","referenceAssertions":[{"rcv":"RCV000159851","title":"NM_007294.4(BRCA1):c.4305C>G (p.Asp1435Glu) AND not provided","clinicalSignificance":3,"reviewStatus":4}]},{"release":"GRCh37","chromosome":"17","start":41234589,"stop":41234591,"reference":"CTCT","alternative":"C","vcv":"VCV000182116","referenceAssertions":[{"rcv":"RCV000159925","title":"NM_007294.4(BRCA1):c.4187_4189del (p.Gln1396del) AND not provided","clinicalSignificance":3,"reviewStatus":4}]},{"release":"GRCh37","chromosome":"17","start":41226408,"stop":41226409,"reference":"GC","alternative":"AA","vcv":"VCV000182117","referenceAssertions":[{"rcv":"RCV000159926","title":"NM_007294.4(BRCA1):c.4614_4615delinsTT (p.Gln1538His) AND not specified","clinicalSignificance":3,"reviewStatus":4}]},{"release":"GRCh37","chromosome":"17","start":41276145,"stop":41276149,"reference":"AGAAA","alternative":"TT","vcv":"VCV000246265","referenceAssertions":[{"rcv":"RCV000235381","title":"NM_007294.4(BRCA1):c.-19-17_-19-13delinsAA AND not specified","clinicalSignificance":3,"reviewStatus":4}]}]},{"genomeRelease":"GRCh38","variants":[{"release":"GRCh38","chromosome":"17","start":43045691,"stop":43045691,"reference":"T","alternative":"G","vcv":"VCV000041833","referenceAssertions":[{"rcv":"RCV000034760","title":"NM_007294.4(BRCA1):c.5579A>C (p.His1860Pro) AND not provided","clinicalSignificance":5,"reviewStatus":6}]},{"release":"GRCh38","chromosome":"17","start":43082456,"stop":43082456,"reference":"G","alternative":"C","vcv":"VCV000182080","referenceAssertions":[{"rcv":"RCV000159851","title":"NM_007294.4(BRCA1):c.4305C>G (p.Asp1435Glu) AND not provided","clinicalSignificance":3,"reviewStatus":4}]},{"release":"GRCh38","chromosome":"17","start":43082572,"stop":43082574,"reference":"CTCT","alternative":"C","vcv":"VCV000182116","referenceAssertions":[{"rcv":"RCV000159925","title":"NM_007294.4(BRCA1):c.4187_4189del (p.Gln1396del) AND not provided","clinicalSignificance":3,"reviewStatus":4}]},{"release":"GRCh38","chromosome":"17","start":43074391,"stop":43074392,"reference":"GC","alternative":"AA","vcv":"VCV000182117","referenceAssertions":[{"rcv":"RCV000159926","title":"NM_007294.4(BRCA1):c.4614_4615delinsTT (p.Gln1538His) AND not specified","clinicalSignificance":3,"reviewStatus":4}]},{"release":"GRCh38","chromosome":"17","start":43124128,"stop":43124132,"reference":"AGAAA","alternative":"TT","vcv":"VCV000246265","referenceAssertions":[{"rcv":"RCV000235381","title":"NM_007294.4(BRCA1):c.-19-17_-19-13delinsAA AND not specified","clinicalSignificance":3,"reviewStatus":4}]}]}]}"`; - -exports[`AnnonarsClient.fetchGeneClinvarInfo() > fetches gene clinvar info correctly 1`] = `"{"perReleaseVars":[{"variants":[{"rcvs":[{"title":"NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) AND not provided","accession":{"accession":"RCV000235121","version":10},"classifications":{"germlineClassification":{"reviewStatus":4,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1674086400","nanos":0},"submissionCount":2}}}},{"title":"NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) AND not specified","accession":{"accession":"RCV000496255","version":2},"classifications":{"germlineClassification":{"reviewStatus":2,"description":{"value":"Uncertain significance","dateLastEvaluated":{"seconds":"1391126400","nanos":0},"submissionCount":1}}}},{"title":"NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) AND Breast-ovarian cancer, familial, susceptibility to, 1","accession":{"accession":"RCV000019228","version":23},"classifications":{"germlineClassification":{"reviewStatus":4,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1686182400","nanos":0},"submissionCount":8}}}},{"title":"NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) AND Hereditary breast ovarian cancer syndrome","accession":{"accession":"RCV000047634","version":16},"classifications":{"germlineClassification":{"reviewStatus":4,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1701907200","nanos":0},"submissionCount":3}}}},{"title":"NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) AND Hereditary cancer-predisposing syndrome","accession":{"accession":"RCV000129894","version":13},"classifications":{"germlineClassification":{"reviewStatus":4,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1680134400","nanos":0},"submissionCount":2}}}}],"name":"NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly)","variationType":3,"hgncIds":["HGNC:1100"],"accession":{"accession":"VCV000017660","version":35},"classifications":{"somaticClinicalImpacts":[],"germlineClassification":{"reviewStatus":4,"xrefs":[],"citations":[],"comments":[],"historyRecords":[],"conditions":[],"description":"Pathogenic","dateLastEvaluated":{"seconds":"1701907200","nanos":0},"dateCreated":{"seconds":"1396310400","nanos":0},"mostRecentSubmission":{"seconds":"1714521600","nanos":0},"numberOfSubmitters":16,"numberOfSubmissions":16}},"sequenceLocation":{"assembly":"GRCh37","chr":17,"accession":"NC_000017.10","start":41258495,"stop":41258495,"displayStart":41258495,"displayStop":41258495,"variantLength":1,"positionVcf":41258495,"referenceAlleleVcf":"A","alternateAlleleVcf":"C"}},{"rcvs":[{"title":"NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Breast-ovarian cancer, familial, susceptibility to, 1","accession":{"accession":"RCV000019229","version":47},"classifications":{"germlineClassification":{"reviewStatus":6,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1439164800","nanos":0},"submissionCount":24}}}},{"title":"NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Hereditary breast ovarian cancer syndrome","accession":{"accession":"RCV000047597","version":38},"classifications":{"germlineClassification":{"reviewStatus":4,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1706659200","nanos":0},"submissionCount":8}}}},{"title":"NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND not provided","accession":{"accession":"RCV000159935","version":61},"classifications":{"germlineClassification":{"reviewStatus":4,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1709251200","nanos":0},"submissionCount":16}}}},{"title":"NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Hereditary cancer-predisposing syndrome","accession":{"accession":"RCV000131902","version":23},"classifications":{"germlineClassification":{"reviewStatus":4,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1693872000","nanos":0},"submissionCount":4}}}},{"title":"NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Familial cancer of breast","accession":{"accession":"RCV000239114","version":14},"classifications":{"germlineClassification":{"reviewStatus":4,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1669680000","nanos":0},"submissionCount":4}}}},{"title":"NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Breast carcinoma","accession":{"accession":"RCV000415051","version":11},"classifications":{"germlineClassification":{"reviewStatus":3,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1666569600","nanos":0},"submissionCount":2}}}},{"title":"NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Breast neoplasm","accession":{"accession":"RCV000412714","version":9},"classifications":{"germlineClassification":{"reviewStatus":3,"description":{"value":"Pathogenic","submissionCount":1}}}},{"title":"NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND multiple conditions","accession":{"accession":"RCV000763010","version":11},"classifications":{"germlineClassification":{"reviewStatus":3,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1651536000","nanos":0},"submissionCount":1}}}},{"title":"NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Neoplasm of ovary","accession":{"accession":"RCV000785199","version":10},"classifications":{"germlineClassification":{"reviewStatus":2,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1543622400","nanos":0},"submissionCount":1}}}},{"title":"NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Breast and/or ovarian cancer","accession":{"accession":"RCV001270967","version":9},"classifications":{"germlineClassification":{"reviewStatus":2,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1560211200","nanos":0},"submissionCount":1}}}}],"name":"NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)","variationType":3,"hgncIds":["HGNC:1100"],"accession":{"accession":"VCV000017661","version":116},"classifications":{"somaticClinicalImpacts":[],"germlineClassification":{"reviewStatus":6,"xrefs":[],"citations":[],"comments":[],"historyRecords":[],"conditions":[],"description":"Pathogenic","dateLastEvaluated":{"seconds":"1439164800","nanos":0},"dateCreated":{"seconds":"1443484800","nanos":0},"mostRecentSubmission":{"seconds":"1715472000","nanos":0},"numberOfSubmitters":57,"numberOfSubmissions":62}},"sequenceLocation":{"assembly":"GRCh37","chr":17,"accession":"NC_000017.10","start":41258504,"stop":41258504,"displayStart":41258504,"displayStop":41258504,"variantLength":1,"positionVcf":41258504,"referenceAlleleVcf":"A","alternateAlleleVcf":"C"}},{"rcvs":[{"title":"NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) AND Breast-ovarian cancer, familial, susceptibility to, 1","accession":{"accession":"RCV000019230","version":56},"classifications":{"germlineClassification":{"reviewStatus":6,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1696723200","nanos":0},"submissionCount":31}}}},{"title":"NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) AND Pancreatic cancer, susceptibility to, 4","accession":{"accession":"RCV000019231","version":12},"classifications":{"germlineClassification":{"reviewStatus":2,"description":{"value":"risk factor","dateLastEvaluated":{"seconds":"1222819200","nanos":0},"submissionCount":1}}}},{"title":"NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) AND Familial cancer of breast","accession":{"accession":"RCV000056295","version":20},"classifications":{"germlineClassification":{"reviewStatus":4,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1607990400","nanos":0},"submissionCount":3}}}},{"title":"NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) AND Hereditary breast ovarian cancer 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carcinoma","accession":{"accession":"RCV001836711","version":9},"classifications":{"germlineClassification":{"reviewStatus":3,"description":{"value":"Pathogenic","submissionCount":1}}}},{"title":"NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) AND multiple conditions","accession":{"accession":"RCV002496414","version":8},"classifications":{"germlineClassification":{"reviewStatus":3,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1651622400","nanos":0},"submissionCount":1}}}},{"title":"NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) AND Endometrial carcinoma","accession":{"accession":"RCV003128128","version":8},"classifications":{"germlineClassification":{"reviewStatus":2,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1676937600","nanos":0},"submissionCount":1}}}},{"title":"NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) AND Triple-negative breast cancer","accession":{"accession":"RCV003225925","version":8},"classifications":{"germlineClassification":{"reviewStatus":2,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1678492800","nanos":0},"submissionCount":1}}}},{"title":"NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) AND BRCA1-related disorder","accession":{"accession":"RCV004554604","version":1},"classifications":{"germlineClassification":{"reviewStatus":3,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1708041600","nanos":0},"submissionCount":1}}}}],"name":"NM_007294.4(BRCA1):c.68_69del 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syndrome","accession":{"accession":"RCV000047372","version":23},"classifications":{"germlineClassification":{"reviewStatus":4,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1703980800","nanos":0},"submissionCount":5}}}},{"title":"NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) AND not provided","accession":{"accession":"RCV000159899","version":20},"classifications":{"germlineClassification":{"reviewStatus":4,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1668729600","nanos":0},"submissionCount":4}}}},{"title":"NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) AND not specified","accession":{"accession":"RCV000238898","version":11},"classifications":{"germlineClassification":{"reviewStatus":4,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1543881600","nanos":0},"submissionCount":2}}}},{"title":"NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) AND Breast and/or ovarian cancer","accession":{"accession":"RCV001798011","version":5},"classifications":{"germlineClassification":{"reviewStatus":3,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1617408000","nanos":0},"submissionCount":1}}}},{"title":"NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) AND Malignant tumor of breast","accession":{"accession":"RCV001353523","version":4},"classifications":{"germlineClassification":{"reviewStatus":2,"description":{"value":"Pathogenic","submissionCount":1}}}},{"title":"NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) AND Breast-ovarian cancer, familial, susceptibility to, 1","accession":{"accession":"RCV000019234","version":29},"classifications":{"germlineClassification":{"reviewStatus":6,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1461283200","nanos":0},"submissionCount":11}}}},{"title":"NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) AND Hereditary cancer-predisposing syndrome","accession":{"accession":"RCV000131965","version":16},"classifications":{"germlineClassification":{"reviewStatus":4,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1701648000","nanos":0},"submissionCount":3}}}}],"name":"NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)","variationType":2,"hgncIds":["HGNC:1100"],"accession":{"accession":"VCV000017665","version":49},"classifications":{"somaticClinicalImpacts":[],"germlineClassification":{"reviewStatus":6,"xrefs":[],"citations":[],"comments":[],"historyRecords":[],"conditions":[],"description":"Pathogenic","dateLastEvaluated":{"seconds":"1461283200","nanos":0},"dateCreated":{"seconds":"1396310400","nanos":0},"mostRecentSubmission":{"seconds":"1713571200","nanos":0},"numberOfSubmitters":27,"numberOfSubmissions":27}},"sequenceLocation":{"assembly":"GRCh37","chr":17,"accession":"NC_000017.10","start":41246334,"stop":41246373,"displayStart":41246334,"displayStop":41246373,"variantLength":40,"positionVcf":41246333,"referenceAlleleVcf":"TGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA","alternateAlleleVcf":"T"}},{"rcvs":[{"title":"NM_007294.4(BRCA1):c.2296_2297del (p.Glu765_Ser766insTer) AND Breast-ovarian cancer, familial, susceptibility to, 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signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}],"stats":{"numberOfGenes":8,"numberOfStrs":0,"numberOfRegions":0}}}],"acmgSf":{"hgncId":"HGNC:1100","ensemblGeneId":"ENSG00000012048","ncbiGeneId":"672","geneSymbol":"BRCA1","mimGeneId":"113705","diseasePhenotype":"Hereditary breast and ovarian cancer","disorderMim":"604370","phenotypeCategory":"Cancer","inheritance":"AD","sfListVersion":"1.0","variantsToReport":"All P and LP"},"clingen":{"geneSymbol":"BRCA1","ncbiGeneId":"672","genomicLocation37":"chr17:41196312-41277500","genomicLocation38":"chr17:43044295-43125364","haploinsufficiencyScore":1,"triplosensitivityScore":4,"haploinsufficiencyDiseaseId":"MONDO:0011450"},"dbnsfp":{"geneName":"BRCA1","geneOldNames":[],"geneOtherNames":["RNF53","BRCC1","PPP1R53","FANCS"],"ccdsId":["CCDS11453","CCDS11454","CCDS11455","CCDS11456","CCDS11459"],"refseqId":["NM_007294"],"mimId":["113705"],"omimId":["113705"],"pathwayBiocartaShort":["atmPathway","bard1Pathway","g2Pathway","atrbrcaPathway"],"pathwayBiocartaFull":["ATM Signaling Pathway","BRCA1-dependent Ub-ligase activity","Cell Cycle: G2/M Checkpoint","Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility"],"pathwayConsensusPathDb":["PI3K-Akt signaling pathway - Homo sapiens (human)","Fanconi anemia pathway - Homo sapiens (human)","Ubiquitin mediated proteolysis - Homo sapiens (human)","Breast cancer - Homo sapiens (human)","Homologous recombination - Homo sapiens (human)","MicroRNAs in cancer - Homo sapiens (human)","Androgen receptor signaling pathway","miRNA Regulation of DNA Damage Response","Signaling Pathways in Glioblastoma","Hepatitis C and Hepatocellular Carcinoma","Pathways Affected in Adenoid Cystic Carcinoma","TP53 Regulates Transcription of DNA Repair Genes","PI3K-Akt Signaling Pathway","DNA Damage Response","HDR through Single Strand Annealing (SSA)","HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)","DNA Repair","Gene expression (Transcription)","Nonhomologous End-Joining (NHEJ)","DNA Double-Strand Break Repair","role of brca1 brca2 and atr in cancer susceptibility","brca1 dependent ub ligase activity","Transcriptional Regulation by E2F6","Generic Transcription Pathway","SUMOylation of DNA damage response and repair proteins","Homology Directed Repair","Post-translational protein modification","SUMO E3 ligases SUMOylate target proteins","Metabolism of proteins","Reproduction","RNA Polymerase II Transcription","G2/M DNA damage checkpoint","G2/M Checkpoints","Cell Cycle Checkpoints","ATF-2 transcription factor network","AndrogenReceptor","Aurora A signaling","SUMOylation","Metalloprotease DUBs","Meiotic synapsis","Meiosis","cell cycle: g2/m checkpoint","atm signaling pathway","TGF_beta_Receptor","TP53 Regulates Transcription of DNA Repair Genes","Fanconi anemia pathway","Coregulation of Androgen receptor activity","FOXA1 transcription factor network","Deubiquitination","Regulation of TP53 Activity through Phosphorylation","Regulation of TP53 Activity","Transcriptional Regulation by TP53","Cell Cycle","Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks","DNA Double Strand Break Response","Validated nuclear estrogen receptor alpha network","Validated targets of C-MYC transcriptional repression","BARD1 signaling events","Processing of DNA double-strand break ends","ATM pathway","E2F transcription factor network","Presynaptic phase of homologous DNA pairing and strand exchange","Homologous DNA Pairing and Strand Exchange","Resolution of D-loop Structures through Holliday Junction Intermediates","Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)","Resolution of D-Loop Structures","HDR through Homologous Recombination (HRR)"],"pathwayKeggId":["hsa04120"],"pathwayKeggFull":["Ubiquitin mediated proteolysis"],"functionDescription":["FUNCTION: E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Regulates centrosomal microtubule nucleation. Required for normal cell cycle progression from G2 to mitosis. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage. Required for FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation. Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks. Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1-mediated ubiquitination of RBBP8. Acts as a transcriptional activator (PubMed:20160719). {ECO:0000269|PubMed:10500182, ECO:0000269|PubMed:10724175, ECO:0000269|PubMed:11836499, ECO:0000269|PubMed:12887909, ECO:0000269|PubMed:12890688, ECO:0000269|PubMed:14976165, ECO:0000269|PubMed:14990569, ECO:0000269|PubMed:16326698, ECO:0000269|PubMed:16818604, ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:18056443, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:19369211, ECO:0000269|PubMed:20160719, ECO:0000269|PubMed:20351172, ECO:0000269|PubMed:20364141}."],"diseaseDescription":["DISEASE: Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269|PubMed:10323242, ECO:0000269|PubMed:11114888, ECO:0000269|PubMed:11301010, ECO:0000269|PubMed:12427738, ECO:0000269|PubMed:12442275, ECO:0000269|PubMed:12938098, ECO:0000269|PubMed:14722926, ECO:0000269|PubMed:15133502, ECO:0000269|PubMed:18285836, ECO:0000269|PubMed:21473589, ECO:0000269|PubMed:23867111, ECO:0000269|PubMed:28364669, ECO:0000269|PubMed:7545954, ECO:0000269|PubMed:7894491, ECO:0000269|PubMed:7894493, ECO:0000269|PubMed:7939630, ECO:0000269|PubMed:8554067, ECO:0000269|PubMed:8723683, ECO:0000269|PubMed:8776600, ECO:0000269|PubMed:9482581, ECO:0000269|PubMed:9609997, ECO:0000269|PubMed:9760198}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Mutations in BRCA1 are thought to be responsible for 45% of inherited breast cancer. Moreover, BRCA1 carriers have a 4-fold increased risk of colon cancer, whereas male carriers face a 3-fold increased risk of prostate cancer. Cells lacking BRCA1 show defects in DNA repair by homologous recombination.","DISEASE: Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. {ECO:0000269|PubMed:12938098, ECO:0000269|PubMed:14722926, ECO:0000269|PubMed:28364669, ECO:0000269|PubMed:8968716}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Mutations in BRCA1 are thought to be responsible for more than 80% of inherited breast-ovarian cancer.","DISEASE: Ovarian cancer (OC) [MIM:167000]: The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. {ECO:0000269|PubMed:10196379, ECO:0000269|PubMed:10486320, ECO:0000269|PubMed:14746861, ECO:0000269|PubMed:28364669}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.","DISEASE: Pancreatic cancer 4 (PNCA4) [MIM:614320]: A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. {ECO:0000269|PubMed:18762988}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.","DISEASE: Fanconi anemia, complementation group S (FANCS) [MIM:617883]: A form of Fanconi anemia, a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269|PubMed:23269703, ECO:0000269|PubMed:25472942, ECO:0000269|PubMed:29133208}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry."],"mimPhenotypeId":["114480","167000","604370","614320","617883"],"mimDisease":["[MIM:114480]Breast cancer","[MIM:604370]Breast-ovarian cancer, familial, 1","[MIM:167000]Ovarian cancer","[MIM:614320]Pancreatic cancer 4","[MIM:617883]Fanconi anemia, complementation group S"],"orphanetDisorderId":["168829","84","1331","213524","145","227535","1333"],"orphanetDisorder":["Primary peritoneal carcinoma","Fanconi anemia","Familial prostate cancer","Hereditary site-specific ovarian cancer syndrome","Hereditary breast and ovarian cancer syndrome","Hereditary breast cancer","Familial pancreatic carcinoma"],"orphanetAssociationType":["Major susceptibility factor in","Disease-causing germline mutation(s) (loss of function) in","Major susceptibility factor in","Major susceptibility factor in","Disease-causing germline mutation(s) (loss of function) in","Major susceptibility factor in","Major susceptibility factor in"],"traitAssociationGwas":["Menopause (age at onset)[26414677","29773799]"],"hpoId":["HP:0001428","HP:0000006","HP:0001425","HP:0003002","HP:0000294","HP:0000568","HP:0000286","HP:0001572","HP:0009623","HP:0001508","HP:0008070","HP:0000582","HP:0004322","HP:0000007","HP:0000750","HP:0030084","HP:0000426","HP:0000189","HP:0000280","HP:0003002","HP:0001903","HP:0000316","HP:0001263","HP:0100615","HP:0000463","HP:0000527","HP:0040012","HP:0000581","HP:0000252","HP:0001249","HP:0000689","HP:0000215","HP:0002910","HP:0003002","HP:0001824","HP:0002861","HP:0004396","HP:0025318","HP:0003003","HP:0002017","HP:0003418","HP:0001433","HP:0005249","HP:0100592","HP:0000819","HP:0001738","HP:0006725","HP:0002039","HP:0002254","HP:0012334","HP:0002896","HP:0004389","HP:0002027","HP:0002716","HP:0000952","HP:0012432","HP:0002019","HP:0002664","HP:0002027","HP:0002017","HP:0003270","HP:0002586","HP:0001426","HP:0003002","HP:0000006","HP:0100615","HP:0030406","HP:0002861","HP:0002894","HP:0012125","HP:0003002","HP:0100615","HP:0011027","HP:0000072","HP:0001053","HP:0006824","HP:0001537","HP:0000286","HP:0001824","HP:0000453","HP:0002863","HP:0000135","HP:0002650","HP:0002827","HP:0000010","HP:0000864","HP:0012745","HP:0001639","HP:0000218","HP:0008053","HP:0012041","HP:0006265","HP:0001770","HP:0007400","HP:0007874","HP:0001636","HP:0000483","HP:0005522","HP:0002245","HP:0000316","HP:0000340","HP:0000508","HP:0002023","HP:0000028","HP:0001249","HP:0000324","HP:0000505","HP:0000582","HP:0100867","HP:0001392","HP:0010293","HP:0005344","HP:0000047","HP:0000639","HP:0007565","HP:0000083","HP:0004209","HP:0000813","HP:0003220","HP:0000486","HP:0000347","HP:0003022","HP:0000520","HP:0001631","HP:0001646","HP:0002823","HP:0000518","HP:0000568","HP:0000238","HP:0002119","HP:0002251","HP:0010469","HP:0000365","HP:0100026","HP:0000027","HP:0008678","HP:0001873","HP:0006101","HP:0001562","HP:0008572","HP:0001263","HP:0006501","HP:0004349","HP:0100760","HP:0000252","HP:0001679","HP:0002007","HP:0000268","HP:0002414","HP:0001882","HP:0002575","HP:0001643","HP:0100587","HP:0001347","HP:0004322","HP:0100542","HP:0000175","HP:0001199","HP:0001511","HP:0001763"],"hpoName":["Somatic mutation","Autosomal dominant inheritance","Heterogeneous","Breast carcinoma","Low anterior hairline","Microphthalmia","Epicanthus","Macrodontia","Proximal placement of thumb","Failure to thrive","Sparse hair","Upslanted palpebral fissure","Short stature","Autosomal recessive inheritance","Delayed speech and language development","Clinodactyly","Prominent nasal bridge","Narrow palate","Coarse facial features","Breast carcinoma","Anemia","Hypertelorism","Global developmental delay","Ovarian neoplasm","Anteverted nares","Long eyelashes","Chromosome breakage","Blepharophimosis","Microcephaly","Intellectual disability","Dental malocclusion","Thick upper lip vermilion","Elevated hepatic transaminase","Breast carcinoma","Weight loss","Melanoma","Poor appetite","Ovarian carcinoma","Colon cancer","Nausea and vomiting","Back pain","Hepatosplenomegaly","Functional intestinal obstruction","Peritoneal abscess","Diabetes mellitus","Exocrine pancreatic insufficiency","Pancreatic adenocarcinoma","Anorexia","Intermittent diarrhea","Extrahepatic cholestasis","Neoplasm of the liver","Intestinal pseudo-obstruction","Abdominal pain","Lymphadenopathy","Jaundice","Chronic fatigue","Constipation","Neoplasm","Abdominal pain","Nausea and vomiting","Abdominal distention","Peritonitis","Multifactorial inheritance","Breast carcinoma","Autosomal dominant inheritance","Ovarian neoplasm","Primary peritoneal carcinoma","Melanoma","Neoplasm of the pancreas","Prostate cancer","Breast carcinoma","Ovarian neoplasm","Abnormal fallopian tube morphology","Hydroureter","Hypopigmented skin patches","Cranial nerve paralysis","Umbilical hernia","Epicanthus","Weight loss","Choanal atresia","Myelodysplasia","Hypogonadism","Scoliosis","Hip dislocation","Recurrent urinary tract infections","Abnormality of the hypothalamus-pituitary axis","Short palpebral fissure","Hypertrophic cardiomyopathy","High palate","Aplasia/Hypoplasia of the iris","Decreased fertility in males","Aplasia/Hypoplasia of fingers","Toe syndactyly","Irregular hyperpigmentation","Almond-shaped palpebral fissure","Tetralogy of Fallot","Astigmatism","Pyridoxine-responsive sideroblastic anemia","Meckel diverticulum","Hypertelorism","Sloping forehead","Ptosis","Anal atresia","Cryptorchidism","Intellectual disability","Facial asymmetry","Visual impairment","Upslanted palpebral fissure","Duodenal stenosis","Abnormality of the liver","Aplasia/Hypoplasia of the uvula","Abnormal carotid artery morphology","Hypospadias","Nystagmus","Multiple cafe-au-lait spots","Renal insufficiency","Clinodactyly of the 5th finger","Bicornuate uterus","Abnormality of chromosome stability","Strabismus","Micrognathia","Hypoplasia of the ulna","Proptosis","Atrial septal defect","Abnormal aortic valve morphology","Abnormality of femur morphology","Cataract","Microphthalmia","Hydrocephalus","Ventriculomegaly","Aganglionic megacolon","Absent testis","Hearing impairment","Arteriovenous malformation","Azoospermia","Renal hypoplasia/aplasia","Thrombocytopenia","Finger syndactyly","Oligohydramnios","External ear malformation","Global developmental delay","Aplasia/Hypoplasia of the radius","Reduced bone mineral density","Clubbing of toes","Microcephaly","Abnormal aortic morphology","Frontal bossing","Dolichocephaly","Spina bifida","Leukopenia","Tracheoesophageal fistula","Patent ductus arteriosus","Abnormality of the preputium","Hyperreflexia","Short stature","Abnormal localization of kidney","Cleft palate","Triphalangeal thumb","Intrauterine growth retardation","Pes planus"],"goBiologicalProcess":["double-strand break repair via homologous recombination","DNA double-strand break processing","DNA replication","postreplication repair","double-strand break repair","double-strand break repair via nonhomologous end joining","regulation of gene expression by genetic imprinting","regulation of transcription by RNA polymerase II","regulation of transcription by RNA polymerase III","fatty acid biosynthetic process","apoptotic process","cellular response to DNA damage stimulus","DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator","chromosome segregation","centrosome cycle","intrinsic apoptotic signaling pathway in response to DNA damage","dosage compensation by inactivation of X chromosome","response to ionizing radiation","positive regulation of vascular endothelial growth factor production","positive regulation of gene expression","protein ubiquitination","protein deubiquitination","androgen receptor signaling pathway","positive regulation of protein ubiquitination","negative regulation of intracellular estrogen receptor signaling pathway","positive regulation of histone acetylation","negative regulation of histone acetylation","regulation of cell population proliferation","regulation of apoptotic process","chordate embryonic development","response to estrogen","regulation of DNA methylation","mitotic G2/M transition checkpoint","negative regulation of fatty acid biosynthetic process","positive regulation of DNA repair","positive regulation of angiogenesis","negative regulation of transcription, DNA-templated","positive regulation of transcription, DNA-templated","positive regulation of transcription by RNA polymerase II","negative regulation of centriole replication","positive regulation of histone H3-K4 methylation","negative regulation of histone H3-K4 methylation","negative regulation of histone H3-K9 methylation","positive regulation of histone H3-K9 methylation","protein autoubiquitination","negative regulation of G0 to G1 transition","positive regulation of histone H4-K20 methylation","positive regulation of cell cycle arrest","cellular response to tumor necrosis factor","cellular response to indole-3-methanol","signal transduction involved in G2 DNA damage checkpoint","protein K6-linked ubiquitination","negative regulation of extrinsic apoptotic signaling pathway via death domain receptors","negative regulation of reactive oxygen species metabolic process","positive regulation of histone H3-K9 acetylation","positive regulation of histone H4-K16 acetylation"],"goCellularComponent":["ubiquitin ligase complex","lateral element","nucleus","nucleoplasm","chromosome","cytoplasm","plasma membrane","gamma-tubulin ring complex","BRCA1-BARD1 complex","protein-containing complex","BRCA1-A complex","ribonucleoprotein complex"],"goMolecularFunction":["DNA binding","damaged DNA binding","transcription coactivator activity","RNA binding","ubiquitin-protein transferase activity","protein binding","zinc ion binding","tubulin binding","enzyme binding","ubiquitin protein ligase binding","identical protein binding","transcription regulatory region DNA binding","androgen receptor binding","RNA polymerase binding"],"tissueSpecificityUniprot":["Isoform 1 and isoform 3 are widely expressed. Isoform 3 is reduced or absent in several breast and ovarian cancer cell lines."],"expressionEgenetics":["cervix","spleen","liver","endometrium","skin","stomach","bone","germinal center","testis","brain","unclassifiable (Anatomical System)","lung","kidney","ovary","lymph node","colon","bile duct","placenta","prostate","mammary gland","skeletal muscle","breast","islets of Langerhans","visual apparatus"],"expressionGnfAtlas":["pons","ciliary ganglion","appendix","tumor","dorsal root ganglion","atrioventricular node","superior cervical ganglion","testis","skeletal 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A]","PPIA[NA]","MTHFD1L[NA]","ALPI[NA]","PSMD12[NA]","NOC3L[NA]","TRMT61A[NA]","ACADM[NA]","RPL7A[NA]","XPNPEP3[NA]","MRPS34[NA]","EEF1B2[NA]","SLC1A5[NA]","CACYBP[NA]","HNRNPDL[NA]","SGPL1[NA]","SF1[NA]","HNRNPF[NA]","RPS26P11[NA]","LUC7L[NA]","PA2G4[NA]","IDH2[NA]","SMC2[NA]","NXF1[NA]","HYOU1[NA]","GRWD1[NA]","VDAC2[NA]","TMLHE[NA]","DDX20[NA]","DCTN1[NA]","HSPA14[NA]","LBR[NA]","DES[NA]","CCT7[NA]","UBE2O[NA]","LRPPRC[NA]","RPL15[NA]","SLC32A1[NA]","SNRPA1[NA]","JUND[NA]","MRPS35[NA]","SSB[NA]","TRIP12[NA]","FAM98B[NA]","TPM1[NA]","CHCHD3[NA]","EIF2S3[NA]","EXOSC7[NA]","MARS[NA]","HSPA4L[NA]","ARF1[NA]","PSMB5[NA]","EPB41L5[NA]","RPL19[NA]","MRPL15[NA]","COPB1[NA]","PIP4K2A[NA]","CCT6A[NA]","FHOD1[NA]","RTRAF[NA]","NEFM[NA]","G3BP1[NA]","CPSF7[NA]","NAA50[NA]","KRI1[NA]","CORO1C[NA]","ALDH18A1[NA]","UBE2M[NA]","SMCHD1[NA]","EIF3E[NA]","CSNK1A1L[NA]","CSNK2A1[NA]","RPS25[NA]","RPS14[NA]","RACK1[NA]","ATAD3A[NA]","RPS27L[NA]","RARS[NA]","VIM[NA]","SF3B3[NA]","EIF3A[NA]","PRKCSH[NA]","ABCE1[NA]","KTN1[NA]","RPL17[NA]","RPL38[NA]","LSG1[NA]","RBM14[NA]","XRN2[NA]","PSMC1[NA]","TUBB2B[NA]","PDHX[NA]","PPP1CB[NA]","PLRG1[NA]","RRS1[NA]","GPI[NA]","CSRP2[NA]","ALYREF[NA]","RPS7[NA]","LDHB[NA]","EIF5B[NA]","PDHB[NA]","PRSS3[NA]","RRBP1[NA]","NUP155[NA]","EEF1A1[NA]","EPB41L3[NA]","PHB[NA]","ALDH1B1[NA]","SLC3A2[NA]","SAR1A[NA]","HNRNPA2B1[NA]","ATP5PO[NA]","ACTB[NA]","DCTN2[NA]","PRPF31[NA]","SRPRA[NA]","MRPS15[NA]","CMSS1[NA]","POLR2E[NA]","C18orf25[NA]","ARSJ[NA]","GTF2I[NA]","FUS[NA]","TUFM[NA]","U2SURP[NA]","DNMT1[NA]","EIF2AK2[NA]","CANX[NA]","RPL36A[NA]","CKMT1A[NA]","POTEKP[NA]","PSMA2[NA]","USP39[NA]","GAPDH[NA]","HNRNPA1L2[NA]","HSP90AA2P[NA]","TRIM28[NA]","ATXN2[NA]","MCM2[NA]","CALD1[NA]","COPG1[NA]","IBA57[NA]","HSP90AB3P[NA]","PABPC1[NA]","RPS18[NA]","PSMC2[NA]","SFPQ[NA]","MGST2[NA]","PUF60[NA]","UQCRC2[NA]","PRMT5[NA]","ATAD3B[NA]","RBM27[NA]","NAT10[NA]","TRIM33[NA]","MSH2[NA]","HSPA4[NA]","HNRNPA1[NA]","EIF3B[NA]","SNRPB2[NA]","SSRP1[NA]","BRIX1[NA]","TES[NA]","PRKDC[NA]","CDK11A[NA]","RPL26L1[NA]","PPP2R1A[NA]","EXOSC9[NA]","MTDH[NA]","LIG3[NA]","PSME4[NA]","RAN[NA]","RAD18[NA]","PLK1[NA]","PDK3[NA]","SRSF4[NA]","SF3B1[NA]","RPS28[NA]","PSMD6[NA]","SERBP1[NA]","TFB1M[NA]","ECH1[NA]","MRPL40[NA]","RPL27[NA]","ARPC4[NA]","H1FX[NA]","ACTA2[NA]","NOP56[NA]","XRN1[NA]","PHB2[NA]","FOXRED1[NA]","EXD2[NA]","IDH3B[NA]","ATF7[NA]","HSPA9[NA]","RPL13[NA]","PCMTD1[NA]","TFRC[NA]","WDR83[NA]","PDCD11[NA]","PWP2[NA]","PCMTD2[NA]","DDOST[NA]","SLC25A3[NA]","IQGAP1[NA]","ZNF326[NA]","HIST1H1C[NA]","PPP2CA[NA]","NUDT21[NA]","PRMT3[NA]","HNRNPL[NA]","MAGED2[NA]","EIF4G1[NA]","LRP5[NA]","PMPCB[NA]","TARDBP[NA]","UBA1[NA]","PABPC4[NA]","IGF2BP2[NA]","FLNC[NA]","CKB[NA]","TSR1[NA]","DDX3X[NA]","AHCYL1[NA]","CUL4A[NA]","AGAP3[NA]","PFN1[NA]","RPS6KB2[NA]","DDX41[NA]","MRPS33[NA]","MRPS31[NA]","MYBBP1A[NA]","GYS2[NA]","FHL1[NA]","RRP1B[NA]","EIF2S2[NA]","TUBB[NA]","CSNK2A2[NA]","C1QBP[NA]","YARS2[NA]","SPATA5L1[NA]","FASN[NA]","TERF2IP[NA]","YTHDF2[NA]","AFG3L2[NA]","DIS3[NA]","ZC3HAV1L[NA]","LARP4B[NA]","GOT2[NA]","OAT[NA]","GFM2[NA]","PSMD4[NA]","AP3B1[NA]","DHX37[NA]","EZR[NA]","LARS[NA]","DHX36[NA]","YWHAB[NA]","RFC1[NA]","RPL24[NA]","GABARAPL2[NA]","PPP1R12A[NA]","HIST1H2BC[NA]","TERF2[NA]","SNRPD3[NA]","LDHA[NA]","CHAF1B[NA]","HNRNPK[NA]","EXOSC2[NA]","MAP1A[NA]","TRA2B[NA]","NMD3[NA]","HSPA1L[NA]","RAB10[NA]","TUBB3[NA]","SMC4[NA]","PSMD3[NA]","ACSL3[NA]","CLIC1[NA]","HNRNPAB[NA]","CPSF2[NA]","KIFAP3[NA]","ARCN1[NA]","AMOT[NA]","SLC33A1[NA]","RPS3A[NA]","DYNC2H1[NA]","AK2[NA]","ADD1[NA]","TRMT1L[NA]","ACTN1[NA]","RPL30[NA]","HNRNPU[NA]","PRRC2B[NA]","MDH2[NA]","MAP7D1[NA]","RAB11FIP1[NA]","MRPL4[NA]","ANKRD17[NA]","ST13[NA]","HNRNPA3[NA]","HNRNPUL1[NA]","NAP1L4[NA]","RPS24[NA]","SLC4A1AP[NA]","MRPL2[NA]","C1orf35[NA]","HSP90AB2P[NA]","HPRT1[NA]","PPM1G[NA]","QARS[NA]","HIST1H2AA[NA]","NLE1[NA]","SRPRB[NA]","TMED10[NA]","PRPF6[NA]","ARHGDIA[NA]","UFL1[NA]","RPS13[NA]","PSMD11[NA]","HIST1H4A[NA]","SPTAN1[NA]","IMP3[NA]","TOP2A[NA]","DLAT[NA]","SF3A3[NA]","NDUFS8[NA]","RPL26[NA]","YWHAZ[NA]","HEATR3[NA]","FXR2[NA]","FKBP4[NA]","MSI1[NA]","RPL10A[NA]","SART3[NA]","NOP58[NA]","ANKRD42[NA]","GLDC[NA]","CCT3[NA]","ATP5F1B[NA]","EGLN1[NA]","KHDRBS1[NA]","ILF3[NA]","SNX6[NA]","MYH10[NA]","WDR5[NA]","SYNE2[NA]","SFXN1[NA]","ATP6V1B1[NA]","AP2B1[NA]","MRPL46[NA]","RPS3[NA]","HSPH1[NA]","GTPBP1[NA]","SLC25A19[NA]","TUBA1B[NA]","HSDL2[NA]","PSMC4[NA]","DNAJC13[NA]","HIST1H2AB[NA]","TP53[NA]","RPL31[NA]","POP7[NA]","RUVBL1[NA]","RPLP0[NA]","GDI2[NA]","STIP1[NA]","DYNC1I2[NA]","GARS[NA]","VASP[NA]","GYS1[NA]","HSPD1[NA]","MCTS1[NA]","LCP1[NA]","DDX6[NA]","MAGT1[NA]","NOP9[NA]","ETF1[NA]","NDUFV2[NA]","MTPAP[NA]","RBM39[NA]","PRKAR2A[NA]","DDX50[NA]","TBR1[NA]","NIFK[NA]","NONO[NA]","SRSF3[NA]","HSP90AA1[NA]","PRPF4[NA]","EIF5A[NA]","CDC42[NA]","TXNDC5[NA]","HNRNPR[NA]","ARGLU1[NA]","HSD17B10[NA]","RPS11[NA]","RPL5[NA]","MRPL58[NA]","NAP1L1[NA]","CDK12[NA]","SNRNP70[NA]","MRPS11[NA]","SRP68[NA]","RPL7L1[NA]","EIF3M[NA]","EIF5[NA]","ADD3[NA]","FBL[NA]","RORC[NA]","MRE11[NA]","MRPL18[NA]","DHX8[NA]","PSMA7[NA]","CKAP5[NA]","GPATCH11[NA]","RANBP9[NA]","PCMT1[NA]","MOV10[NA]","HCFC1[NA]","RNH1[NA]","ERI3[NA]","TFCP2[NA]","SEMG1[NA]","TBL2[NA]","EEF1E1[NA]","ANXA2[NA]","EFTUD2[NA]","TRIM25[NA]","ZNF207[NA]","NMT1[NA]","HSD17B4[NA]","DHX30[NA]","MRPL38[NA]","MCM5[NA]","RPL10[NA]","SNAP91[NA]","MTA1[NA]","PSMD13[NA]","VPS35[NA]","SLC25A11[NA]","ZNF768[NA]","SH3D21[NA]","SNRNP200[NA]","RPL35[NA]","KIF5B[NA]","LUC7L3[NA]","NOMO1[NA]","TMPO[NA]","TBL3[NA]","UPF2[NA]","CPSF3[NA]","KARS[NA]","PCBP2[NA]","CAPZA1[NA]","LYAR[NA]","PCNA[NA]","EIF3C[NA]","XRCC5[NA]","RPL37A[NA]","SRSF1[NA]","RPLP0P6[NA]","DDX46[NA]","ARIH1[NA]","DDX54[NA]","PSMD1[NA]","PLS1[NA]","VN1R5[NA]","GSTP1[NA]","ERLIN1[NA]","PES1[NA]","DNAJA3[NA]","PRPSAP1[NA]","XRCC6[NA]","WDR82[NA]","LRRC47[NA]","DHX9[NA]","RPS8[NA]","DRG1[NA]","ACLY[NA]","AIMP1[NA]","HNRNPM[NA]","AP3M1[NA]","MYL6B[NA]","CAD[NA]","HAT1[NA]","LANCL1[NA]","CRLF3[NA]","SNRPD1[NA]","KIF2A[NA]","VARS[NA]","JUN[NA]","CFAP20[NA]","MICU2[NA]","MTHFR[NA]","TIMM23B[NA]","ARL1[NA]","CLTC[NA]","HNRNPCL1[NA]","MRPS22[NA]","HSPA8[NA]","NEMF[NA]","TUBA4A[NA]","EXOSC10[NA]","MAP1B[NA]","MTREX[NA]","RSL1D1[NA]","CAND1[NA]","EBNA1BP2[NA]","FLII[NA]","YWHAE[NA]","COPB2[NA]","PRDX3[NA]","NOSIP[NA]","BCAS2[NA]","ZC3H15[NA]","EIF2B3[NA]","EIF3F[NA]","MRPS2[NA]","IPO8[NA]","CMAS[NA]","LSM12[NA]","HSP90B1[NA]","RPL27A[NA]","MAP4K4[NA]","GART[NA]","G3BP2[NA]","SF3B4[NA]","AFDN[NA]","RBM4[NA]","RPL36[NA]","PARP1[NA]","EIF3D[NA]","RPL4[NA]","DLST[NA]","CSDE1[NA]","SRSF7[NA]","USP7[NA]","RPL14[NA]","RPN2[NA]","TALDO1[NA]","SF3A1[NA]","ATP5F1A[NA]","RPL12[NA]","RPS29[NA]","LARP1[NA]","AIFM1[NA]","MYH11[NA]","POLDIP3[NA]","MRPS18A[NA]","LRRC40[NA]","FHL3[NA]","TARS[NA]","ISG20L2[NA]","MYL12A[NA]","HSD17B11[NA]","XPOT[NA]","ISOC1[NA]","MYLK[NA]","VDAC1[NA]","CRKL[NA]","HP1BP3[NA]","COPS4[NA]","PAICS[NA]","TKT[NA]","U2AF2[NA]","PRPH[NA]","PURA[NA]","PHF6[NA]","DDX56[NA]","LAP3[NA]","ALDOA[NA]","HDAC1[NA]","WDR18[NA]","RPL13A[NA]","SLC25A13[NA]","NDUFA6[NA]","FBXO22[NA]","PSMC5[NA]","DHX16[NA]","C7orf50[NA]","MTAP[NA]","RUVBL2[NA]","RFC2[NA]","NDUFS3[NA]","YBX3[NA]","HSP90AA5P[NA]","DDX27[NA]","RPS12[NA]","KPNA2[NA]","PRDX6[NA]","SF3B2[NA]","ENO1[NA]","TRAP1[NA]","C11orf98[NA]","NCBP1[NA]","EIF2B4[NA]","GTSE1[NA]","ATF3[NA]","SRSF6[NA]","TCP1[NA]","SMU1[NA]","PSMA6[NA]","RPS26[NA]","RPUSD3[NA]","RPL18A[NA]","AP2S1[NA]","SSR3[NA]","CCT8[NA]","CAPRIN1[NA]","CBR1[NA]","CHTOP[NA]","WARS[NA]","CREB5[NA]","SLC25A1[NA]","RPL3[NA]","EIF6[NA]","GTF3C1[NA]","SNW1[NA]","PSMB6[NA]","CYC1[NA]","CAP1[NA]","PPIB[NA]","SERPINH1[NA]","MB21D2[NA]","DARS[NA]","ATF2[NA]","GTF3C5[NA]","RTCB[NA]","PTBP2[NA]","MYO1C[NA]","MRPL22[NA]","NDUFA9[NA]","ASNS[NA]","SND1[NA]","PCBP1[NA]","RPL35A[NA]","RPS16[NA]","TUBB1[NA]","MOGS[NA]","SEPT2[NA]","PHGDH[NA]","CFL1[NA]","EXOC4[NA]","BUB3[NA]","GRPEL1[NA]","HIST1H1A[NA]","SRSF9[NA]","ZYX[NA]","RPLP1[NA]","RPS17[NA]","ADAR[NA]","NOM1[NA]","RPL21[NA]","CPSF6[NA]","PSMC6[NA]","RPS10P5[NA]","EIF2S1[NA]","RFC3[NA]","RBM34[NA]","NELFB[NA]","EIF2B5[NA]","NPEPPS[NA]","RPL6[NA]","PSMA4[NA]","ZC3H7B[NA]","ETFA[NA]","UQCRFS1P1[NA]","DHRS7B[NA]","TUBB6[NA]","RPL11[NA]","CSNK1D[NA]","NIPSNAP2[NA]","CCT2[NA]","EIF2A[NA]","FOSB[NA]","CUL5[NA]","NUDC[NA]","TMCO1[NA]","FIGNL1[NA]","TBC1D4[NA]","CSNK1A1[NA]","RRP1[NA]","DAZAP1[NA]","SRSF11[NA]","DDX47[NA]","MRS2[NA]","PPP2R2A[NA]","DDX17[NA]","KPNA4[NA]","PWP1[NA]","PABPN1[NA]","PKM[NA]","ATP1A1[NA]","SNRPB[NA]","PTBP1[NA]","RPF2[NA]","MAPK1[NA]","MRPS27[NA]","RAB1A[NA]","HSPA2[NA]","RTCA[NA]","FXR1[NA]","NACA[NA]","FARSA[NA]","WDR3[NA]","RPL29[NA]","PRDX2[NA]","RECQL[NA]","TMEM109[NA]","ATP5F1C[NA]","POLRMT[NA]","RPS23[NA]","DHX29[NA]","EWSR1[NA]","IARS[NA]","RPS9[NA]","EMG1[NA]","RPL9[NA]","ABCD3[NA]","RPS5[NA]","DPM1[NA]","PRPF8[NA]","DDX39A[NA]","PGK1[NA]","ELP1[NA]","CSTB[NA]","ABCF1[NA]","NSUN2[NA]","IRS4[NA]","DDX52[NA]","PSMD7[NA]","SMAP1[NA]","NBR1[NA]","MT-CO2[NA]","TMPO[NA]","MRPL1[NA]","RPL23[NA]","CC2D1A[NA]","RFC5[NA]","PYCR1[NA]","CNOT1[NA]","THOC2[NA]","CCT4[NA]","TFIP11[NA]","EEF2[NA]","MRPS5[NA]","IGF2BP3[NA]","MEF2A[NA]","RBM28[NA]","UMPS[NA]","HSPA5[NA]","DCAF6[NA]","HNRNPA0[NA]","GCN1[NA]","STRAP[NA]","TUBB4B[NA]","RPN1[NA]","DDX24[NA]","TUBB4A[NA]","P4HB[NA]","TRMT6[NA]","UPF3B[NA]","POP1[NA]","KRR1[NA]","SRRT[NA]","BYSL[NA]","LETM1[NA]","MRPS18B[NA]","ATP6V1E1[NA]","KIF5A[NA]","SCAF8[NA]","PRIM2[NA]","GMPS[NA]","GPX4[NA]","LARP7[NA]","RPL23A[NA]","ELOB[NA]","HIST1H2BA[NA]","ATP2A2[NA]","SSBP1[NA]","SRSF2[NA]","LUC7L2[NA]","HNRNPC[NA]","STIM1[NA]","MYL6[NA]","RPL8[NA]","DNAJB1[NA]","HNRNPD[NA]","SART1[NA]","MRPS9[NA]","PHAX[NA]","CDC73[NA]","ANKHD1[NA]","HNRNPH3[NA]","IPO9[NA]","USP10[NA]","DDX31[NA]","MRPS14[NA]","PSMD2[NA]","SLC25A5[NA]","WDR45B[NA]","GFPT1[NA]","POLR1C[NA]","MYH14[NA]","RANBP1[NA]","NRDC[NA]","PSMC3[NA]","UBE2L3[NA]","PRPF40A[NA]","EXOSC8[NA]","KIFC1[NA]","IMMT[NA]","DNAJC7[NA]","CSE1L[NA]","DLD[NA]","TROVE2[NA]","TOP1[NA]","DYNC1H1[NA]","RPL22[NA]","RPL10L[NA]","MRPL37[NA]","PTPN1[NA]","CPOX[NA]","LARP4[NA]","CDC37[NA]","RRP12[NA]","PRPF19[NA]","ABCF2[NA]","RPP30[NA]","SUPT16H[NA]","ACTR1A[NA]","ACAD11[NA]","GABARAP[NA]","ZFR[NA]","MCM3[NA]","CKAP2[NA]","SNRPD2[NA]","FLNA[NA]","MYH9[NA]","HDLBP[NA]","EEF1G[NA]","SLC25A4[NA]","RPS2[NA]","DDX23[NA]","CCT5[NA]","MDH1[NA]","NOC4L[NA]","EIF2B1[NA]","RNGTT[NA]","PSMB1[NA]","H1F0[NA]","FEN1[NA]","PDIA3[NA]","DIMT1[NA]","SRPK1[NA]","YTHDC2[NA]","CIRBP[NA]","DKC1[NA]","TARSL2[NA]","RPS4X[NA]","PGAM1[NA]","ATP2A1[NA]","EIF4A3[NA]","SSR4[NA]","CCNB1[NA]","EPRS[NA]","SDHB[NA]","CTNNBL1[NA]","LRRC59[NA]","ERLIN2[NA]","RPS20[NA]","RPS10[NA]","TARS2[NA]","EEF1D[NA]","SARS2[NA]","PYM1[NA]","DBT[NA]","PPP1CA[NA]","EIF3L[NA]","GNB1[NA]","POLDIP2[NA]","AASDHPPT[NA]","SHMT1[NA]","DHX15[NA]","SNX1[NA]","CAMK2D[NA]","RPL28[NA]","SHMT2[NA]","PIK3R1[0.998]","ORC3[0.999]","POMGNT1[0.939]","LMO4[0.999]","E2F1[0.999]","JUNB[0.995]","TOPBP1[0.999]","BACH1[0.705]","TPX2[0.999]","BRCA2[0.999]","CTBP1[0.999]","BRCC3[1]","MYC[0.999]","JUND[0.992]","ATF1[0.995]","EXD2[0.068]","LDB2[0.989]","CLSPN[0.996]","CDK2[NA]","CCNA2[NA]","STAT1[0.999]","EP300[0.999]","POLR2K[0.995]","CSNK2B[0.999]","TUBG1[1]","NBN[0.999]","UBE2L3[0.999]","SMARCA4[0.999]","CASP3[0.999]","PSAP[0.855]","NUFIP1[0.998]","CCNB1[0.999]","ANTXR1[0.863]","STAT5A[0.997]","H2AFY[0.999]","MLH1[0.999]","NFYA[0.999]","RBBP8[NA]","LDB1[NA]","LMO4[NA]","RBBP7[0.999]","BARD1[NA]","CSTF2[NA]","CSTF1[NA]","POLR2A[0.999]","E2F4[0.999]","UBE2D3[0.999]","SP1[0.998]","LMO4[NA]","RBBP8[NA]","AURKB[NA]","TACC1[NA]","BRCA2[NA]","BARD1[NA]","DCLRE1C[0.998]","YY1[0.999]","POU2F1[0.999]","CREBBP[0.999]","CSTF1[0.986]","CCNA2[0.997]","CDK4[0.999]","UBB[0.999]","NMI[0.524]","STAT3[0.999]","RAD50[NA]","MSH6[NA]","MSH2[NA]","KAT2A[NA]","TRRAP[NA]","RAD51[0.999]","CCNA1[0.999]","TUBA4A[0.998]","HDAC1[0.999]","CSNK2A1[0.999]","CDK1[0.999]","ALDH1A1[0.139]","NFKB1[0.999]","ATR[0.999]","RB1[0.077]","NBN[NA]","MSH2[NA]","MRE11[NA]","RFC1[NA]","MLH1[NA]","MSH6[NA]","BLM[NA]","RAD50[NA]","ATM[NA]","SMAD2[0.999]","SMAD4[0.999]","RBBP4[0.999]","CHEK2[0.999]","MED21[0.992]","MED1[0.999]","SMARCA2[0.999]","DHX9[0.999]","NPM1[NA]","BARD1[NA]","USF2[0.978]","POLR2A[NA]","BARD1[NA]","SMARCA4[NA]","MED17[NA]","ELK1[0.979]","HDAC2[0.999]","POLR2L[NA]","POLR2I[NA]","POLR2K[NA]","POLR2F[NA]","POLR2E[NA]","POLR2D[NA]","POLR2C[NA]","POLR2G[NA]","POLR2J[NA]","POLR2B[NA]","POLR2A[NA]","POLR2H[NA]","POLR2A[NA]","BARD1[NA]","CDK7[0.999]","RFC1[0.999]","XRCC1[0.992]","TRRAP[0.999]","KPNA6[0.585]","TUBB[0.999]","VCP[0.999]","ATM[0.999]","MAP3K3[0.967]","CDK2[1]","RELA[0.999]","ZNF350[NA]","RBBP8[NA]","CSTF1[NA]","BARD1[NA]","CSTF2[NA]","CSTF3[NA]","TADA3[NA]","TRRAP[NA]","KAT2A[NA]","MSH2[NA]","TAF9[NA]","TAF10[NA]","TAF5L[NA]","SUPT3H[NA]","MSH6[NA]","RAD50[NA]","MSH6[NA]","MSH6[NA]","BLM[NA]","RFC2[NA]","MLH1[NA]","MSH2[NA]","RFC4[NA]","RFC1[NA]","RFC2[NA]","ATM[NA]","RFC1[NA]","MLH1[NA]","RFC4[NA]","MLH1[NA]","ATM[NA]","MSH6[NA]","BLM[NA]","RAD50[NA]","NBN[NA]","RFC4[NA]","RFC2[NA]","MRE11[NA]","RFC1[NA]","MSH2[NA]","SMARCE1[NA]","SMARCA4[NA]","SMARCC2[NA]","SMARCC1[NA]","SMARCD2[NA]","SMARCA2[NA]","SMARCB1[NA]","ARID1A[NA]","ACTL6A[NA]","MRE11[NA]","NBN[NA]","RAD50[NA]","RAD50[0.999]","GTF2F2[NA]","POLR2B[NA]","ERCC2[NA]","GTF2H2[NA]","MED21[NA]","POLR2D[NA]","GTF2H1[NA]","POLR2E[NA]","POLR2F[NA]","POLR2K[NA]","ERCC3[NA]","POLR2L[NA]","POLR2I[NA]","GTF2H4[NA]","POLR2H[NA]","GTF2E2[NA]","GTF2F1[NA]","POLR2A[NA]","GTF2E1[NA]","POLR2G[NA]","GTF2H3[NA]","POLR2J[NA]","GTF2B[NA]","POLR2C[NA]","TBP[NA]","BRCA2[NA]","BRCC3[NA]","BABAM2[NA]","RAD51[NA]","UIMC1[NA]","BARD1[NA]","RBBP8[NA]","ABRAXAS1[NA]","BARD1[NA]","UIMC1[NA]","BARD1[NA]","BACH1[NA]","NBN[NA]","BACH1[NA]","MRE11[NA]","RBBP8[NA]","RAD50[NA]","BARD1[NA]","TOPBP1[NA]","HDAC2[NA]","HDAC1[NA]","BACH1[NA]","MLH1[NA]","MSH6[NA]","TOPBP1[NA]","BARD1[NA]","BARD1[NA]","BRCA2[NA]","MSH2[0.999]","MSH6[0.999]","UBE2D1[0.998]","CTCFL[0.5]","KIF1B[0.996]","MSH3[0.999]","NCOA2[0.999]","NCOA3[0.996]","MAP4K4[0.695]","NUP153[0.999]","DNAJA3[0.999]","CDK8[0.999]","ELK4[0.494]","BLM[0.999]","MRE11[0.999]","HSPA8[0.999]","CDK16[0.011]","BABAM2[0.999]","CSTF2[0.999]","MED17[0.999]","RBL1[0.999]","RBL2[0.999]","APLP2[0.793]","PEG3[0.390]","RPL31[0.999]","WNT2B[0.299]","PRKDC[0.999]","HIST2H3A[0.999]","UBE3A[0.998]","ETS1[0.999]","FLI1[0.974]","GTF2E1[0.985]","GTF2F1[0.999]","GTF2H4[0.999]","SMARCB1[0.998]","SMARCC2[0.989]","SMARCC1[0.993]","SMARCD2[0.983]","ORC2[0.999]","PPP1R3A[0.025]","WDR48[0.899]","BRD7[0.957]","PIAS4[0.998]","PIAS1[0.998]","UBE2I[0.999]","TERF1[0.999]","TERF2[0.999]","XRCC5[0.999]","NPM1[0.999]","ARNT[0.999]","FOXO3[0.999]","RPA1[0.999]","CDKN2D[0.969]","PRMT1[0.982]","MORF4L1[0.999]","MRPL36[0.997]","UBE2T[0.999]","UBE2D2[0.064]","MTA2[0.999]","BABAM1[0.999]","HERC2[0.994]","POLR2H[0.999]","PGR[0.994]","UBXN1[0.998]","UBE2E1[0.999]","UBE2E2[0.999]","UBE2E3[0.992]","UBE2W[0.997]","UBE2K[0.930]","UBE2N[0.999]","HIST2H2AC[0.999]","PAX2[0.998]","ZBTB14[0.420]","AP2A1[0.998]","TP63[0.999]","TFAP2A[0.997]","TFAP2C[0.998]","ETV5[0.998]","EZR[0.999]","RDX[0.999]","MSN[0.998]","VDR[0.996]","TFAP4[0.994]","CCAR2[0.957]","ATRIP[0.995]","TP73[0.999]","PCLAF[0.890]","HIF1A[0.999]","AHR[0.999]","NINL[0.998]","CCNH[0.999]","PABPC1[0.999]","MAPK3[0.999]","MAPK1[0.999]","CTNNB1[0.999]","SKP1[0.999]","FBXO44[1]","SKP2[0.999]","FBXO5[0.999]","SH2B1[0.621]","RICTOR[0.996]","MTOR[0.999]","ACTG1[0.999]","ALDH9A1[0.958]","ATP1B1[0.993]","ATP1B3[0.986]","CDK9[0.999]","COL1A1[0.471]","DCN[0.006]","DYNC1H1[0.999]","EIF4A2[0.993]","ENO1[0.992]","DNAJA1[0.725]","DNAJB1[0.923]","INPP1[0.005]","LDHC[0.570]","MAN2C1[0.004]","MAP3K1[0.994]","MT-ND1[0.005]","PPP2R5C[0.999]","PREP[0.573]","PSMA6[0.999]","AURKC[0.998]","TARS[0.969]","TLE4[0.963]","TULP2[0.093]","USH2A[0.994]","ZSCAN21[0.401]","CUBN[0.995]","PSMG1[0.355]","EIF3B[0.988]","SNX3[0.928]","ASH2L[0.996]","USP2[0.998]","GTF3C4[0.999]","EIF5B[0.561]","TATDN2[0.924]","CRYZL1[0.854]","RANBP9[0.998]","NPC2[0.214]","DBF4[0.988]","SOX30[0.975]","HIBADH[0.956]","WDR6[0.963]","SNRNP200[0.999]","KDM1A[0.999]","PISD[0.999]","CNRIP1[0.004]","CABYR[0.950]","PILRB[0.159]","HSPA14[0.970]","LCMT1[0.005]","PPHLN1[0.519]","RNF216[0.5]","SDK2[0.040]","ZNF280D[0.412]","CNTLN[0.992]","DALRD3[0.635]","ERO1B[0.941]","DDX24[0.951]","RPGRIP1[0.856]","PHF12[0.993]","SNX6[0.975]","HECTD3[0.133]","ITIH5[0.005]","RCC1L[0.005]","TEX101[0.925]","THOC3[0.996]","TPTE2[0.711]","SPATA4[0.004]","DNHD1[0.999]","COMMD1[0.999]","CNTN4[0.806]","GGN[0.904]","RWDD4[0.004]","RTKN2[0.168]","NKAPL[0.004]","TCTEX1D2[0.004]","TSEN54[0.984]","CRIPAK[0.822]","GUSBP1[0.005]","CAPZB[0.999]","FLNA[0.999]","XRCC6[0.999]","DRG1[0.986]","YBX1[0.999]","POLR2C[0.999]","POLR2D[0.999]","POLR2E[0.999]","POLR2G[0.999]","POLR2I[0.999]","POLR2J[0.999]","PPP2CA[0.999]","PPP6C[0.534]","RFC2[0.999]","SRSF1[0.999]","STRN[0.997]","SUPT6H[0.998]","TPM1[0.999]","TPM3[0.985]","YWHAZ[0.999]","RNGTT[0.990]","RECQL5[0.997]","RACK1[0.999]","FGFR1OP[0.996]","COPE[0.994]","GPN1[0.262]","PHB2[0.998]","ANKRD26[1]","PPP6R1[0.893]","ANKRD28[0.977]","ZDHHC5[0.022]","MRM2[0.995]","GPN3[0.999]","RPRD1A[1]","PPP6R3[0.905]","CDKN2AIP[0.968]","PRR5[0.078]","RPRD1B[1]","MAPKAP1[0.934]","RPAP3[0.005]","BORA[0.038]","RPAP2[0.999]","PPP1R9B[0.999]","ANKRD44[0.004]","PPP1R18[0.570]","VSIG8[0.024]","CEP350[0.960]","FLII[0.958]","CETN1[0.996]","ODF2[0.999]","GATA3[0.999]","RPSA[0.999]","XIAP[0.958]","CASP9[0.996]","EIF4G1[0.994]","RAD18[0.998]","MATK[0.653]","HLTF[0.976]","POLH[0.995]","REV1[0.989]","HIVEP1[0.580]","JUP[0.999]","PEX5[0.855]","HNRNPD[0.999]","NFE2L2[0.991]","HUWE1[0.998]","PLK1[0.999]","EZH2[0.999]","SUZ12[0.999]","EED[0.999]","HSP90AA1[0.990]","BECN1[0.998]","OLA1[0.617]","HIST1H2AB[0.999]","SUPT5H[0.997]","ACTN3[0.999]","RUNX1T1[0.905]","CLK2[0.931]","CRY2[0.907]","CSNK1D[0.999]","DES[0.996]","DHPS[0.988]","HGF[0.978]","LCK[0.986]","PRKAA2[0.999]","PSMD9[0.999]","TCEA2[0.990]","ELOA[0.999]","NRIP1[0.999]","PPFIA1[0.605]","AP1M1[0.970]","MAP3K14[0.807]","PRPF3[0.999]","FXR2[0.970]","POM121[0.998]","RWDD2B[0.004]","MCRS1[0.999]","KAT5[0.999]","MID2[0.989]","ABLIM3[0.586]","SETX[0.964]","ZNF423[0.422]","PPP1R13B[0.972]","TNS2[0.732]","PRKAG3[0.985]","MYOZ1[0.984]","MARCKSL1[0.994]","GCC1[0.838]","FAM184A[0.004]","RTL10[0.004]","OBSCN[0.771]","HORMAD1[0.930]","FAM161A[1]","BRSK1[0.989]","CCDC120[0.005]","SSX2IP[0.998]","CWF19L2[0.004]","SYT6[0.893]","C2CD6[0.004]","LMNTD1[0.991]","TCEANC[0.971]","TXLNA[0.090]","TSGA10IP[0.005]","TMPRSS12[0.031]","CEP57L1[0.005]","STAC2[0.006]","GOLGA8DP[0.844]","CENPB[0.943]","DDB1[0.999]","DDX54[0.993]","EBNA1BP2[0.938]","FAM83A[0.004]","GAR1[0.999]","GNL3L[0.965]","HERC1[0.811]","NAT10[0.928]","NOP2[0.996]","NUMA1[0.999]","PGAM5[0.912]","PMS2[0.999]","RBM28[0.994]","RCL1[0.967]","RPL21[0.999]","RPL28[0.999]","RPL3[0.999]","RPL32[0.999]","RPL34[0.999]","RPS27[0.999]","RPS7[0.999]","RSL1D1[0.995]","RUVBL2[0.999]","ZC3HAV1[0.494]","ABCF2[0.995]","AFAP1[0.987]","CBX3[0.999]","CDC16[0.999]","CDCA2[0.472]","CEBPB[0.999]","UTP4[0.969]","CMAS[0.999]","CREB5[0.872]","DDX23[0.999]","DDX39A[0.995]","DNMT1[0.998]","FLYWCH1[0.405]","GATAD2B[0.991]","GTF2IRD1[0.524]","KIF20A[0.999]","KIF22[0.999]","MKI67[0.990]","MORF4L2[0.951]","NIPBL[0.999]","NOL11[0.966]","NABP2[0.998]","PCNA[0.999]","RAD21[0.999]","RFC4[0.999]","RNF169[0.005]","RPS13[0.999]","SLAIN2[0.995]","SMARCA5[0.999]","SMC3[0.999]","TONSL[0.999]","USP7[0.997]","WAPL[0.999]","WIZ[0.324]","ZC3H11A[0.011]","SSRP1[0.998]","SUPT16H[0.999]","IFI30[0.952]","ITPR1[0.804]","LGALS3[0.992]","NCOA1[0.999]","HIST1H2BC[0.999]","PARP1[0.999]","PARG[0.979]","PSMA7[0.999]","CBX5[0.999]","CBX1[0.999]","USP37[0.998]","PYCARD[0.907]","CASP1[0.723]","ZMIZ1[0.991]","CDC25C[0.995]","ERCC5[0.999]","POLR1A[0.999]","UBTF[0.996]","TAF1B[0.985]","KEAP1[0.999]","POLN[0.997]","NME1[0.999]","GRN[0.354]","LGALS3BP[0.019]","CEP72[0.990]","HCFC1[0.999]","TPI1[0.505]","ZFR[0.839]","IGF2BP3[0.937]","SLC39A6[0.956]","ATXN2L[0.537]","UBAP2[0.004]","NUP214[0.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]","AIMP1[0.996]","ZNF326[0.906]","OGT[0.999]","SRP72[0.999]","NUP107[0.999]","FKBP4[0.999]","CPOX[0.960]","DDX17[0.998]","DCTN1[0.999]","TCOF1[0.915]","MAGEB2[0.005]","PDS5A[0.996]","STRAP[0.999]","ANXA1[0.999]","PFKP[0.867]","CAMK2D[0.995]","TTN[0.997]","TKT[0.753]","PFKM[0.966]","CDC37[0.812]","NOP56[0.999]","DPY30[0.993]","DIMT1[0.970]","KLHL22[1]","EIF3H[0.988]","ANXA5[0.876]","PHGDH[0.884]","GPR161[0.122]","EIF3M[0.992]","RNMT[0.998]","APEH[0.990]","HP1BP3[0.993]","FAM98A[0.004]","EIF3L[0.999]","SPAG9[0.631]","UCHL5[0.999]","OGFR[0.005]","XRN2[0.988]","PRPF19[0.999]","SNX9[0.977]","PSMD4[0.999]","PDE12[0.999]","EIF2S1[0.999]","BUB3[0.999]","MDH2[0.992]","PGD[0.159]","CFAP47[0.021]","EXOSC8[0.996]","DIAPH1[0.998]","PSMD6[0.999]","KHSRP[0.987]","MTHFD1[0.554]","PFKL[0.880]","CSDE1[0.911]","CLIC1[0.994]","MOV10[0.996]","SETD1A[0.997]","NSF[0.991]","MCM2[0.999]","MDH1[0.896]","ADRM1[0.999]","MKRN2[0.053]","SEC13[0.999]","UBR2[0.999]","CLIP1[0.999]","PSMC6[0.999]","RPL29[0.998]","TRA2B[0.998]","AARS[0.712]","IMPDH2[0.542]","PGK1[0.171]","TRIM25[0.998]","LMNB1[0.999]","FLNC[0.929]","WWOX[0.999]","PALB2[NA]","MORF4L2[NA]","MORF4L1[NA]","BRCA2[NA]","BACH1[NA]","MLH1[NA]","RBBP8[NA]","BRCA2[NA]","BARD1[NA]","SMC1A[NA]","RAD50[NA]","MSH6[NA]","TAF9[0.999]","DBP[0.984]","POLR2B[0.999]","CDS1[0.760]","CTBP2[0.996]","TADA3[0.999]","KAT2A[0.999]","BCORL1[0.963]","SUPT3H[0.993]","TAF10[0.999]"],"ensemblGene":"ENSG00000012048","chr":"17","uniprotAcc":"P38398","uniprotId":"BRCA1_HUMAN","entrezGeneId":"672","ucscId":"uc002ict.4","geneFullName":"BRCA1, 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(the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; reproductive system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; neoplasm; pigmentation phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; immune system phenotype; renal/urinary system phenotype; skeleton phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); limbs/digits/tail phenotype; digestive/alimentary phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype; cellular phenotype; homeostasis/metabolism phenotype; muscle phenotype; ","zfinZebrafishGene":".","zfinZebrafishStructure":".","zfinZebrafishPhenotypeQuality":".","zfinZebrafishPhenotypeTag":"."},"gnomadConstraints":{"ensemblGeneId":"ENSG00000012048","entrezId":"672","geneSymbol":"BRCA1","expLof":174.67,"expMis":2249.6,"expSyn":792.24,"misZ":2.3217,"obsLof":134,"obsMis":1948,"obsSyn":655,"oeLof":0.76716,"oeLofLower":0.666,"oeLofUpper":0.885,"oeMis":0.86592,"oeMisLower":0.833,"oeMisUpper":0.899,"oeSyn":0.82677,"oeSynLower":0.775,"oeSynUpper":0.882,"pli":1.4282e-34,"synZ":2.6589},"hgnc":{"hgncId":"HGNC:1100","symbol":"BRCA1","name":"BRCA1 DNA repair associated","status":1,"aliasSymbol":["RNF53","BRCC1","PPP1R53","FANCS"],"aliasName":["BRCA1/BRCA2-containing complex, subunit 1","protein phosphatase 1, regulatory subunit 53","Fanconi anemia, complementation group S"],"prevSymbol":[],"prevName":["breast cancer 1, early onset","breast cancer 1"],"geneGroup":["Ring finger proteins","FA complementation groups","Protein phosphatase 1 regulatory subunits","BRCA1 A complex","BRCA1 B complex","BRCA1 C complex"],"geneGroupId":[58,548,694,1328,1335,1336],"ena":["U14680"],"refseqAccession":["NM_007294"],"ccdsId":["CCDS11456","CCDS11455","CCDS11453","CCDS11459","CCDS11454"],"uniprotIds":["P38398"],"pubmedId":[1676470,25472942],"mgdId":["MGI:104537"],"rgdId":["RGD:2218"],"lsdb":[{"name":"http://research.nhgri.nih.gov/bic/","url":"Breast Cancer"},{"name":"http://www2.rockefeller.edu/fanconi","url":"Fanconi Anaemia Mutation Database"},{"name":"http://genomed.org/LOVD/BC/home.php?select_db=BRCA1","url":"BRCA1 database at LOVD-China"},{"name":"https://databases.lovd.nl/shared/genes/BRCA1","url":"Global Variome shared LOVD"},{"name":"http://proteomics.bio21.unimelb.edu.au/lovd/genes/BRCA1","url":"LOVD - Leiden Open Variation Database"},{"name":"http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_292.xml","url":"LRG_292"}],"omimId":["113705"],"enzymeId":[],"maneSelect":["ENST00000357654.9","NM_007294.4"],"locusGroup":"protein-coding gene","locusType":"gene with protein product","location":"17q21.31","locationSortable":"17q21.31","dateApprovedReserved":"1991-02-20","dateNameChanged":"2019-01-22","dateModified":"2023-03-15","entrezId":"672","ensemblGeneId":"ENSG00000012048","vegaId":"OTTHUMG00000157426","ucscId":"uc002ict.4","cosmic":"BRCA1","orphanet":119068,"agr":"HGNC:1100"},"ncbi":{"geneId":"672","rifEntries":[{"text":"Causality and functional relevance of BRCA1 and BRCA2 pathogenic variants in non-high-grade serous ovarian carcinomas.","pmids":[37850614]},{"text":"Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.","pmids":[37930190]},{"text":"Association of BRCA mutation status with the efficacy of poly (ADP-ribose) polymerase inhibitors in cancer: A systematic review and meta-analysis.","pmids":[37541880]},{"text":"Prenatal BRCA1 epimutations contribute significantly to triple-negative breast cancer development.","pmids":[38053165]}],"summary":"This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020]"},"omim":{"hgncId":"HGNC:1100","omimDiseases":[{"omimId":"OMIM:114480","label":"Breast cancer"},{"omimId":"OMIM:604370","label":"Breast-Ovarian cancer, familial, susceptibility to, 1"},{"omimId":"OMIM:617883","label":"Fanconi anemia, complementation group S"}]},"rcnv":{"hgncId":"HGNC:1100","pHaplo":0.282374740223128,"pTriplo":0.620028553615501},"shet":{"hgncId":"HGNC:1100","sHet":0.005},"gtex":{"hgncId":"HGNC:1100","ensemblGeneId":"ENSG00000012048","ensemblGeneVersion":"20","records":[{"tissue":1,"tissueDetailed":1,"tpms":[0.2209,1.101,1.482,1.9555,4.207]},{"tissue":1,"tissueDetailed":2,"tpms":[0.1854,0.809,1.122,1.497,3.968]},{"tissue":2,"tissueDetailed":3,"tpms":[0.03997,0.70615,0.95975,1.21925,2.801]},{"tissue":3,"tissueDetailed":7,"tpms":[0.8304,1.474,1.786,2.114,2.319]},{"tissue":4,"tissueDetailed":23,"tpms":[4.381,14.705,19.77,24.485,36.84]},{"tissue":4,"tissueDetailed":56,"tpms":[0.03328,0.4607,0.8826,1.426,5.061]},{"tissue":5,"tissueDetailed":4,"tpms":[0.2705,0.911375,1.147,1.461,2.974]},{"tissue":5,"tissueDetailed":5,"tpms":[0.3367,0.9703,1.2525,1.5865,3.346]},{"tissue":5,"tissueDetailed":6,"tpms":[0.1409,0.83585,1.107,1.381,4.015]},{"tissue":7,"tissueDetailed":8,"tpms":[0.1942,0.7064,0.95425,1.20975,3.423]},{"tissue":7,"tissueDetailed":9,"tpms":[0.1907,0.48295,0.6051,0.7926,3.936]},{"tissue":7,"tissueDetailed":10,"tpms":[0.1931,0.84465,1.099,1.409,3.494]},{"tissue":7,"tissueDetailed":11,"tpms":[0.1435,0.5071,0.6817,0.8526,1.795]},{"tissue":7,"tissueDetailed":12,"tpms":[0.1807,0.5977,0.7439,0.894,1.75]},{"tissue":7,"tissueDetailed":13,"tpms":[0.3276,0.69255,0.8449,1.11,4.767]},{"tissue":7,"tissueDetailed":14,"tpms":[0.2463,0.6357,0.8121,1.022,3.672]},{"tissue":7,"tissueDetailed":15,"tpms":[0.2167,0.6819,0.9926,1.528,5.017]},{"tissue":7,"tissueDetailed":16,"tpms":[0.2405,0.771325,1.053,1.396,5.09]},{"tissue":7,"tissueDetailed":17,"tpms":[0.08648,0.59885,0.8826,1.18775,6.496]},{"tissue":7,"tissueDetailed":18,"tpms":[0.2729,0.8034,1.1,1.376,3.549]},{"tissue":7,"tissueDetailed":19,"tpms":[0.3637,1.737,2.371,3.222,7.683]},{"tissue":7,"tissueDetailed":20,"tpms":[0.4543,1.012,1.407,2.1155,4.871]},{"tissue":8,"tissueDetailed":21,"tpms":[0.1048,0.9573,1.316,1.7635,5.007]},{"tissue":9,"tissueDetailed":25,"tpms":[1.137,1.46,2.256,2.84,5.502]},{"tissue":9,"tissueDetailed":26,"tpms":[1.188,1.502,1.8565,2.27175,3.456]},{"tissue":10,"tissueDetailed":27,"tpms":[0.4501,1.69,2.112,2.806,5.456]},{"tissue":10,"tissueDetailed":28,"tpms":[0.4739,1.45325,1.9725,2.65275,6.846]},{"tissue":11,"tissueDetailed":29,"tpms":[0.2521,1.3035,1.716,2.1715,4.408]},{"tissue":11,"tissueDetailed":30,"tpms":[0.3604,1.847,2.624,3.716,13.31]},{"tissue":11,"tissueDetailed":31,"tpms":[0.2562,1.355,1.759,2.2125,4.45]},{"tissue":12,"tissueDetailed":32,"tpms":[1.196,1.417,2.042,2.838,3.715]},{"tissue":13,"tissueDetailed":33,"tpms":[0.07571,0.7861,1.163,1.521,3.17]},{"tissue":13,"tissueDetailed":34,"tpms":[0.0263,0.4611,0.87665,1.27675,4.875]},{"tissue":14,"tissueDetailed":35,"tpms":[0.07574,0.2879,0.4409,0.7182,4.438]},{"tissue":14,"tissueDetailed":36,"tpms":[0.3846,0.389625,0.5875,0.860525,1.091]},{"tissue":15,"tissueDetailed":37,"tpms":[0.06851,0.5388,0.93435,1.6585,7.523]},{"tissue":16,"tissueDetailed":38,"tpms":[0.2091,1.165,1.741,2.486,9.323]},{"tissue":17,"tissueDetailed":40,"tpms":[0.06435,0.6387,0.8947,1.1845,4.109]},{"tissue":18,"tissueDetailed":41,"tpms":[0.554,2.0265,2.549,3.1605,5.873]},{"tissue":19,"tissueDetailed":42,"tpms":[0.4069,1.232,1.538,1.95775,8.516]},{"tissue":20,"tissueDetailed":43,"tpms":[0.01594,0.3794,0.50675,0.6811,2.068]},{"tissue":21,"tissueDetailed":44,"tpms":[0.2558,1.4255,1.972,2.9315,9.565]},{"tissue":22,"tissueDetailed":45,"tpms":[0.208,1.054,1.381,1.716,5.602]},{"tissue":23,"tissueDetailed":39,"tpms":[0.2541,1.0235,1.2805,1.6725,5.465]},{"tissue":24,"tissueDetailed":22,"tpms":[1.211,4.502,6.958,18.0375,34.6]},{"tissue":24,"tissueDetailed":47,"tpms":[0.2108,1.466,1.9735,2.5315,6.01]},{"tissue":24,"tissueDetailed":48,"tpms":[0.1891,1.306,1.761,2.354,5.223]},{"tissue":25,"tissueDetailed":49,"tpms":[0.4102,1.502,2.153,2.8265,8.739]},{"tissue":26,"tissueDetailed":50,"tpms":[0.941,1.849,2.29,3.088,7.364]},{"tissue":27,"tissueDetailed":51,"tpms":[0.2336,0.75795,1.155,1.8485,7.28]},{"tissue":28,"tissueDetailed":52,"tpms":[3.074,8.973,10.92,13.13,21.45]},{"tissue":29,"tissueDetailed":53,"tpms":[0.4751,2.301,4.408,7.953,27.18]},{"tissue":30,"tissueDetailed":54,"tpms":[0.8724,1.78075,2.274,2.80175,4.493]},{"tissue":31,"tissueDetailed":55,"tpms":[0.6156,1.764,2.2715,2.87975,5.605]}]},"domino":{"geneSymbol":"BRCA1","score":0.98257756},"conditions":{"hgncId":"HGNC:1100","diseaseAssociations":[{"hgncId":"HGNC:1100","labeledDisorders":[{"termId":"OMIM:617883","title":"Fanconi anemia, complementation group S"},{"termId":"ORPHA:84","title":"Fanconi anemia"}],"sources":[1,2,3],"confidence":1,"diseaseName":"Fanconi anemia","diseaseDefinition":"A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors."},{"hgncId":"HGNC:1100","labeledDisorders":[{"termId":"OMIM:114480","title":"Breast cancer"},{"termId":"OMIM:604370","title":"Breast-Ovarian cancer, familial, susceptibility to, 1"},{"termId":"ORPHA:145","title":"Hereditary breast and/or ovarian cancer syndrome"},{"termId":"ORPHA:227535","title":"Hereditary breast cancer"}],"sources":[1,2,3],"confidence":1,"diseaseName":"Hereditary breast and/or ovarian cancer syndrome","diseaseDefinition":"A genetic condition characterized by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbour PVs in HBOC genes do not have a suggestive family history."},{"hgncId":"HGNC:1100","labeledDisorders":[{"termId":"ORPHA:1331","title":"Familial prostate cancer"}],"sources":[2],"confidence":1,"diseaseName":"Familial prostate cancer","diseaseDefinition":"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents."},{"hgncId":"HGNC:1100","labeledDisorders":[{"termId":"OMIM:614320","title":"Pancreatic Cancer, Susceptibility To, 4"},{"termId":"OMIM:614320","title":"pancreatic cancer, susceptibility to, 4"},{"termId":"ORPHA:1333","title":"Familial pancreatic carcinoma"}],"sources":[1,2,3],"confidence":1,"diseaseName":"Familial pancreatic carcinoma","diseaseDefinition":"Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives."},{"hgncId":"HGNC:1100","labeledDisorders":[{"termId":"ORPHA:168829","title":"Primary peritoneal carcinoma"}],"sources":[2],"confidence":1,"diseaseName":"Primary peritoneal carcinoma","diseaseDefinition":"Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma (see this term)."},{"hgncId":"HGNC:1100","labeledDisorders":[{"termId":"ORPHA:70567","title":"Cholangiocarcinoma"}],"sources":[2],"confidence":1,"diseaseName":"Cholangiocarcinoma","diseaseDefinition":"Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC, see this term) originating in the epithelium of the biliary tree, either intra or extra hepatic."},{"hgncId":"HGNC:1100","labeledDisorders":[{"termId":"OMIM:616579","title":"Intellectual developmental disorder, autosomal dominant 40"},{"termId":"ORPHA:178469","title":"Autosomal dominant non-syndromic intellectual disability"}],"sources":[3],"confidence":1,"diseaseName":"Autosomal dominant non-syndromic intellectual disability"}],"panelappAssociations":[{"hgncId":"HGNC:1100","confidenceLevel":2,"entityType":1,"phenotypes":["Prostate cancer, MONDO:0008315"],"modeOfInheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","panel":{"id":318,"name":"Familial prostate 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unknown","panel":{"id":929,"name":"Additional findings health related - adult specific","version":"1.2"}},{"hgncId":"HGNC:1100","confidenceLevel":1,"entityType":1,"phenotypes":["{Breast-ovarian cancer, familial, 1}, OMIM:604370","Adult only"],"modeOfInheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","panel":{"id":931,"name":"Additional findings health related - CNV analysis adult specific","version":"1.2"}},{"hgncId":"HGNC:1100","confidenceLevel":1,"entityType":1,"phenotypes":[],"modeOfInheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","panel":{"id":1223,"name":"Inherited prostate cancer","version":"1.4"}},{"hgncId":"HGNC:1100","confidenceLevel":3,"entityType":1,"phenotypes":["Non-medullary thyroid cancer"],"modeOfInheritance":"Unknown","panel":{"id":171,"name":"Inherited non-medullary thyroid cancer","version":"1.7"}},{"hgncId":"HGNC:1100","confidenceLevel":3,"entityType":1,"phenotypes":["Gastrointestinal and Colorectal Cancer"],"modeOfInheritance":"","panel":{"id":254,"name":"GI tract tumours","version":"1.22"}},{"hgncId":"HGNC:1100","confidenceLevel":3,"entityType":1,"phenotypes":["INTELLECTUAL DISABILITY"],"modeOfInheritance":"BIALLELIC, autosomal or pseudoautosomal","panel":{"id":478,"name":"Fetal anomalies","version":"3.124"}},{"hgncId":"HGNC:1100","confidenceLevel":3,"entityType":1,"phenotypes":["{Breast-ovarian cancer, familial, 1} 604370 autosomal dominant","{Pancreatic cancer, susceptibility to, 4} 614320 autosomal dominant","intellectual disability recessive"],"modeOfInheritance":"BIALLELIC, autosomal or pseudoautosomal","panel":{"id":285,"name":"Intellectual disability - microarray and sequencing","version":"5.405"}},{"hgncId":"HGNC:1100","confidenceLevel":3,"entityType":1,"phenotypes":["Fanconi anemia, complementation group S, OMIM:617883","Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage","Bone marrow failure"],"modeOfInheritance":"BIALLELIC, autosomal or pseudoautosomal","panel":{"id":398,"name":"Primary immunodeficiency or monogenic inflammatory bowel disease","version":"4.162"}}]}}]}"`; +exports[`AnnonarsClient.fetchGeneClinvarInfo() > fetches gene clinvar info correctly 1`] = `"{"perReleaseVars":[{"variants":[{"rcvs":[{"title":"NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) AND not provided","accession":{"accession":"RCV000235121","version":10},"classifications":{"germlineClassification":{"reviewStatus":4,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1674086400","nanos":0},"submissionCount":2}}}},{"title":"NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) AND not specified","accession":{"accession":"RCV000496255","version":2},"classifications":{"germlineClassification":{"reviewStatus":2,"description":{"value":"Uncertain significance","dateLastEvaluated":{"seconds":"1391126400","nanos":0},"submissionCount":1}}}},{"title":"NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) AND 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research","diseaseSubGroup":"","version":"1.141","versionCreated":"2024-01-04T14:08:43.065350Z","relevantDisorders":["Viral susceptibility"],"types":[{"name":"Research","slug":"research","description":"This is a gene panel used for research."}],"hashId":"58c7fd7f8f6203413360f1b6","stats":{"numberOfGenes":695,"numberOfStrs":0,"numberOfRegions":2}}},{"entityType":1,"entityName":"BRCA1","confidenceLevel":4,"penetrance":0,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["{Breast-ovarian cancer, familial, 1}, OMIM:604370","Adult only"],"modeOfInheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","geneData":{"hgncId":"HGNC:1100","hgncSymbol":"BRCA1","geneSymbol":"BRCA1"},"panel":{"id":929,"name":"Additional findings health related - adult specific","diseaseGroup":"","diseaseSubGroup":"","version":"1.2","versionCreated":"2022-04-04T14:14:10.695069Z","relevantDisorders":[],"types":[{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"},{"name":"Additional Findings","slug":"additional-findings","description":"This is a gene panel that maybe used for additional findings."}],"stats":{"numberOfGenes":6,"numberOfStrs":0,"numberOfRegions":0}}},{"entityType":1,"entityName":"BRCA1","confidenceLevel":4,"penetrance":0,"publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":["{Breast-ovarian cancer, familial, 1}, OMIM:604370","Adult only"],"modeOfInheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","geneData":{"hgncId":"HGNC:1100","hgncSymbol":"BRCA1","geneSymbol":"BRCA1"},"panel":{"id":931,"name":"Additional findings health related - CNV analysis adult specific","diseaseGroup":"","diseaseSubGroup":"","version":"1.2","versionCreated":"2022-04-04T14:14:17.762899Z","relevantDisorders":[],"types":[{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"},{"name":"Additional Findings","slug":"additional-findings","description":"This is a gene panel that maybe used for additional findings."}],"stats":{"numberOfGenes":6,"numberOfStrs":0,"numberOfRegions":0}}},{"entityType":1,"entityName":"BRCA1","confidenceLevel":4,"penetrance":0,"publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":[],"modeOfInheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","geneData":{"hgncId":"HGNC:1100","hgncSymbol":"BRCA1","geneSymbol":"BRCA1"},"panel":{"id":1223,"name":"Inherited prostate cancer","diseaseGroup":"","diseaseSubGroup":"","version":"1.4","versionCreated":"2023-10-26T10:49:59.515119Z","relevantDisorders":["R430"],"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}],"stats":{"numberOfGenes":8,"numberOfStrs":0,"numberOfRegions":0}}}],"acmgSf":{"hgncId":"HGNC:1100","ensemblGeneId":"ENSG00000012048","ncbiGeneId":"672","geneSymbol":"BRCA1","mimGeneId":"113705","diseasePhenotype":"Hereditary breast and ovarian cancer","disorderMim":"604370","phenotypeCategory":"Cancer","inheritance":"AD","sfListVersion":"1.0","variantsToReport":"All P and LP"},"clingen":{"geneSymbol":"BRCA1","ncbiGeneId":"672","genomicLocation37":"chr17:41196312-41277500","genomicLocation38":"chr17:43044295-43125364","haploinsufficiencyScore":1,"triplosensitivityScore":4,"haploinsufficiencyDiseaseId":"MONDO:0011450"},"dbnsfp":{"geneName":"BRCA1","geneOldNames":[],"geneOtherNames":["RNF53","BRCC1","PPP1R53","FANCS"],"ccdsId":["CCDS11453","CCDS11454","CCDS11455","CCDS11456","CCDS11459"],"refseqId":["NM_007294"],"mimId":["113705"],"omimId":["113705"],"pathwayBiocartaShort":["atmPathway","bard1Pathway","g2Pathway","atrbrcaPathway"],"pathwayBiocartaFull":["ATM Signaling Pathway","BRCA1-dependent Ub-ligase activity","Cell Cycle: G2/M Checkpoint","Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility"],"pathwayConsensusPathDb":["PI3K-Akt signaling pathway - Homo sapiens (human)","Fanconi anemia pathway - Homo sapiens (human)","Ubiquitin mediated proteolysis - Homo sapiens (human)","Breast cancer - Homo sapiens (human)","Homologous recombination - Homo sapiens (human)","MicroRNAs in cancer - Homo sapiens (human)","Androgen receptor signaling pathway","miRNA Regulation of DNA Damage Response","Signaling Pathways in Glioblastoma","Hepatitis C and Hepatocellular Carcinoma","Pathways Affected in Adenoid Cystic Carcinoma","TP53 Regulates Transcription of DNA Repair Genes","PI3K-Akt Signaling Pathway","DNA Damage Response","HDR through Single Strand Annealing (SSA)","HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)","DNA Repair","Gene expression (Transcription)","Nonhomologous End-Joining (NHEJ)","DNA Double-Strand Break Repair","role of brca1 brca2 and atr in cancer susceptibility","brca1 dependent ub ligase activity","Transcriptional Regulation by E2F6","Generic Transcription Pathway","SUMOylation of DNA damage response and repair proteins","Homology Directed Repair","Post-translational protein modification","SUMO E3 ligases SUMOylate target proteins","Metabolism of proteins","Reproduction","RNA Polymerase II Transcription","G2/M DNA damage checkpoint","G2/M Checkpoints","Cell Cycle Checkpoints","ATF-2 transcription factor network","AndrogenReceptor","Aurora A signaling","SUMOylation","Metalloprotease DUBs","Meiotic synapsis","Meiosis","cell cycle: g2/m checkpoint","atm signaling pathway","TGF_beta_Receptor","TP53 Regulates Transcription of DNA Repair Genes","Fanconi anemia pathway","Coregulation of Androgen receptor activity","FOXA1 transcription factor network","Deubiquitination","Regulation of TP53 Activity through Phosphorylation","Regulation of TP53 Activity","Transcriptional Regulation by TP53","Cell Cycle","Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks","DNA Double Strand Break Response","Validated nuclear estrogen receptor alpha network","Validated targets of C-MYC transcriptional repression","BARD1 signaling events","Processing of DNA double-strand break ends","ATM pathway","E2F transcription factor network","Presynaptic phase of homologous DNA pairing and strand exchange","Homologous DNA Pairing and Strand Exchange","Resolution of D-loop Structures through Holliday Junction Intermediates","Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)","Resolution of D-Loop Structures","HDR through Homologous Recombination (HRR)"],"pathwayKeggId":["hsa04120"],"pathwayKeggFull":["Ubiquitin mediated proteolysis"],"functionDescription":["FUNCTION: E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Regulates centrosomal microtubule nucleation. Required for normal cell cycle progression from G2 to mitosis. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage. Required for FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation. Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks. Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1-mediated ubiquitination of RBBP8. Acts as a transcriptional activator (PubMed:20160719). {ECO:0000269|PubMed:10500182, ECO:0000269|PubMed:10724175, ECO:0000269|PubMed:11836499, ECO:0000269|PubMed:12887909, ECO:0000269|PubMed:12890688, ECO:0000269|PubMed:14976165, ECO:0000269|PubMed:14990569, ECO:0000269|PubMed:16326698, ECO:0000269|PubMed:16818604, ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:18056443, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:19369211, ECO:0000269|PubMed:20160719, ECO:0000269|PubMed:20351172, ECO:0000269|PubMed:20364141}."],"diseaseDescription":["DISEASE: Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269|PubMed:10323242, ECO:0000269|PubMed:11114888, ECO:0000269|PubMed:11301010, ECO:0000269|PubMed:12427738, ECO:0000269|PubMed:12442275, ECO:0000269|PubMed:12938098, ECO:0000269|PubMed:14722926, ECO:0000269|PubMed:15133502, ECO:0000269|PubMed:18285836, ECO:0000269|PubMed:21473589, ECO:0000269|PubMed:23867111, ECO:0000269|PubMed:28364669, ECO:0000269|PubMed:7545954, ECO:0000269|PubMed:7894491, ECO:0000269|PubMed:7894493, ECO:0000269|PubMed:7939630, ECO:0000269|PubMed:8554067, ECO:0000269|PubMed:8723683, ECO:0000269|PubMed:8776600, ECO:0000269|PubMed:9482581, ECO:0000269|PubMed:9609997, ECO:0000269|PubMed:9760198}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Mutations in BRCA1 are thought to be responsible for 45% of inherited breast cancer. Moreover, BRCA1 carriers have a 4-fold increased risk of colon cancer, whereas male carriers face a 3-fold increased risk of prostate cancer. Cells lacking BRCA1 show defects in DNA repair by homologous recombination.","DISEASE: Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. {ECO:0000269|PubMed:12938098, ECO:0000269|PubMed:14722926, ECO:0000269|PubMed:28364669, ECO:0000269|PubMed:8968716}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Mutations in BRCA1 are thought to be responsible for more than 80% of inherited breast-ovarian cancer.","DISEASE: Ovarian cancer (OC) [MIM:167000]: The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. {ECO:0000269|PubMed:10196379, ECO:0000269|PubMed:10486320, ECO:0000269|PubMed:14746861, ECO:0000269|PubMed:28364669}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.","DISEASE: Pancreatic cancer 4 (PNCA4) [MIM:614320]: A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. {ECO:0000269|PubMed:18762988}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.","DISEASE: Fanconi anemia, complementation group S (FANCS) [MIM:617883]: A form of Fanconi anemia, a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269|PubMed:23269703, ECO:0000269|PubMed:25472942, ECO:0000269|PubMed:29133208}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry."],"mimPhenotypeId":["114480","167000","604370","614320","617883"],"mimDisease":["[MIM:114480]Breast cancer","[MIM:604370]Breast-ovarian cancer, familial, 1","[MIM:167000]Ovarian cancer","[MIM:614320]Pancreatic cancer 4","[MIM:617883]Fanconi anemia, complementation group S"],"orphanetDisorderId":["168829","84","1331","213524","145","227535","1333"],"orphanetDisorder":["Primary peritoneal carcinoma","Fanconi anemia","Familial prostate cancer","Hereditary site-specific ovarian cancer syndrome","Hereditary breast and ovarian cancer syndrome","Hereditary breast cancer","Familial pancreatic carcinoma"],"orphanetAssociationType":["Major susceptibility factor in","Disease-causing germline mutation(s) (loss of function) in","Major susceptibility factor in","Major susceptibility factor in","Disease-causing germline mutation(s) (loss of function) in","Major susceptibility factor in","Major susceptibility factor in"],"traitAssociationGwas":["Menopause (age at onset)[26414677","29773799]"],"hpoId":["HP:0001428","HP:0000006","HP:0001425","HP:0003002","HP:0000294","HP:0000568","HP:0000286","HP:0001572","HP:0009623","HP:0001508","HP:0008070","HP:0000582","HP:0004322","HP:0000007","HP:0000750","HP:0030084","HP:0000426","HP:0000189","HP:0000280","HP:0003002","HP:0001903","HP:0000316","HP:0001263","HP:0100615","HP:0000463","HP:0000527","HP:0040012","HP:0000581","HP:0000252","HP:0001249","HP:0000689","HP:0000215","HP:0002910","HP:0003002","HP:0001824","HP:0002861","HP:0004396","HP:0025318","HP:0003003","HP:0002017","HP:0003418","HP:0001433","HP:0005249","HP:0100592","HP:0000819","HP:0001738","HP:0006725","HP:0002039","HP:0002254","HP:0012334","HP:0002896","HP:0004389","HP:0002027","HP:0002716","HP:0000952","HP:0012432","HP:0002019","HP:0002664","HP:0002027","HP:0002017","HP:0003270","HP:0002586","HP:0001426","HP:0003002","HP:0000006","HP:0100615","HP:0030406","HP:0002861","HP:0002894","HP:0012125","HP:0003002","HP:0100615","HP:0011027","HP:0000072","HP:0001053","HP:0006824","HP:0001537","HP:0000286","HP:0001824","HP:0000453","HP:0002863","HP:0000135","HP:0002650","HP:0002827","HP:0000010","HP:0000864","HP:0012745","HP:0001639","HP:0000218","HP:0008053","HP:0012041","HP:0006265","HP:0001770","HP:0007400","HP:0007874","HP:0001636","HP:0000483","HP:0005522","HP:0002245","HP:0000316","HP:0000340","HP:0000508","HP:0002023","HP:0000028","HP:0001249","HP:0000324","HP:0000505","HP:0000582","HP:0100867","HP:0001392","HP:0010293","HP:0005344","HP:0000047","HP:0000639","HP:0007565","HP:0000083","HP:0004209","HP:0000813","HP:0003220","HP:0000486","HP:0000347","HP:0003022","HP:0000520","HP:0001631","HP:0001646","HP:0002823","HP:0000518","HP:0000568","HP:0000238","HP:0002119","HP:0002251","HP:0010469","HP:0000365","HP:0100026","HP:0000027","HP:0008678","HP:0001873","HP:0006101","HP:0001562","HP:0008572","HP:0001263","HP:0006501","HP:0004349","HP:0100760","HP:0000252","HP:0001679","HP:0002007","HP:0000268","HP:0002414","HP:0001882","HP:0002575","HP:0001643","HP:0100587","HP:0001347","HP:0004322","HP:0100542","HP:0000175","HP:0001199","HP:0001511","HP:0001763"],"hpoName":["Somatic mutation","Autosomal dominant inheritance","Heterogeneous","Breast carcinoma","Low anterior hairline","Microphthalmia","Epicanthus","Macrodontia","Proximal placement of thumb","Failure to thrive","Sparse hair","Upslanted palpebral fissure","Short stature","Autosomal recessive inheritance","Delayed speech and language development","Clinodactyly","Prominent nasal bridge","Narrow palate","Coarse facial features","Breast carcinoma","Anemia","Hypertelorism","Global developmental delay","Ovarian neoplasm","Anteverted nares","Long eyelashes","Chromosome breakage","Blepharophimosis","Microcephaly","Intellectual disability","Dental malocclusion","Thick upper lip vermilion","Elevated hepatic transaminase","Breast carcinoma","Weight loss","Melanoma","Poor appetite","Ovarian carcinoma","Colon cancer","Nausea and vomiting","Back pain","Hepatosplenomegaly","Functional intestinal obstruction","Peritoneal abscess","Diabetes mellitus","Exocrine pancreatic insufficiency","Pancreatic adenocarcinoma","Anorexia","Intermittent diarrhea","Extrahepatic cholestasis","Neoplasm of the liver","Intestinal pseudo-obstruction","Abdominal pain","Lymphadenopathy","Jaundice","Chronic fatigue","Constipation","Neoplasm","Abdominal pain","Nausea and vomiting","Abdominal distention","Peritonitis","Multifactorial inheritance","Breast carcinoma","Autosomal dominant inheritance","Ovarian neoplasm","Primary peritoneal carcinoma","Melanoma","Neoplasm of the pancreas","Prostate cancer","Breast carcinoma","Ovarian neoplasm","Abnormal fallopian tube morphology","Hydroureter","Hypopigmented skin patches","Cranial nerve paralysis","Umbilical hernia","Epicanthus","Weight loss","Choanal atresia","Myelodysplasia","Hypogonadism","Scoliosis","Hip dislocation","Recurrent urinary tract infections","Abnormality of the hypothalamus-pituitary axis","Short palpebral fissure","Hypertrophic cardiomyopathy","High palate","Aplasia/Hypoplasia of the iris","Decreased fertility in males","Aplasia/Hypoplasia of fingers","Toe syndactyly","Irregular hyperpigmentation","Almond-shaped palpebral fissure","Tetralogy of Fallot","Astigmatism","Pyridoxine-responsive sideroblastic anemia","Meckel diverticulum","Hypertelorism","Sloping forehead","Ptosis","Anal atresia","Cryptorchidism","Intellectual disability","Facial asymmetry","Visual impairment","Upslanted palpebral fissure","Duodenal stenosis","Abnormality of the liver","Aplasia/Hypoplasia of the uvula","Abnormal carotid artery morphology","Hypospadias","Nystagmus","Multiple cafe-au-lait spots","Renal insufficiency","Clinodactyly of the 5th finger","Bicornuate uterus","Abnormality of chromosome stability","Strabismus","Micrognathia","Hypoplasia of the ulna","Proptosis","Atrial septal defect","Abnormal aortic valve morphology","Abnormality of femur morphology","Cataract","Microphthalmia","Hydrocephalus","Ventriculomegaly","Aganglionic megacolon","Absent testis","Hearing impairment","Arteriovenous malformation","Azoospermia","Renal hypoplasia/aplasia","Thrombocytopenia","Finger syndactyly","Oligohydramnios","External ear malformation","Global developmental delay","Aplasia/Hypoplasia of the radius","Reduced bone mineral density","Clubbing of toes","Microcephaly","Abnormal aortic morphology","Frontal bossing","Dolichocephaly","Spina bifida","Leukopenia","Tracheoesophageal fistula","Patent ductus arteriosus","Abnormality of the preputium","Hyperreflexia","Short stature","Abnormal localization of kidney","Cleft palate","Triphalangeal thumb","Intrauterine growth retardation","Pes planus"],"goBiologicalProcess":["double-strand break repair via homologous recombination","DNA double-strand break processing","DNA replication","postreplication repair","double-strand break repair","double-strand break repair via nonhomologous end joining","regulation of gene expression by genetic imprinting","regulation of transcription by RNA polymerase II","regulation of transcription by RNA polymerase III","fatty acid biosynthetic process","apoptotic process","cellular response to DNA damage stimulus","DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator","chromosome segregation","centrosome cycle","intrinsic apoptotic signaling pathway in response to DNA damage","dosage compensation by inactivation of X chromosome","response to ionizing radiation","positive regulation of vascular endothelial growth factor production","positive regulation of gene expression","protein ubiquitination","protein deubiquitination","androgen receptor signaling pathway","positive regulation of protein ubiquitination","negative regulation of intracellular estrogen receptor signaling pathway","positive regulation of histone acetylation","negative regulation of histone acetylation","regulation of cell population proliferation","regulation of apoptotic process","chordate embryonic development","response to estrogen","regulation of DNA methylation","mitotic G2/M transition checkpoint","negative regulation of fatty acid biosynthetic process","positive regulation of DNA repair","positive regulation of angiogenesis","negative regulation of transcription, DNA-templated","positive regulation of transcription, DNA-templated","positive regulation of transcription by RNA polymerase II","negative regulation of centriole replication","positive regulation of histone H3-K4 methylation","negative regulation of histone H3-K4 methylation","negative regulation of histone H3-K9 methylation","positive regulation of histone H3-K9 methylation","protein autoubiquitination","negative regulation of G0 to G1 transition","positive regulation of histone H4-K20 methylation","positive regulation of cell cycle arrest","cellular response to tumor necrosis factor","cellular response to indole-3-methanol","signal transduction involved in G2 DNA damage checkpoint","protein K6-linked ubiquitination","negative regulation of extrinsic apoptotic signaling pathway via death domain receptors","negative regulation of reactive oxygen species metabolic process","positive regulation of histone H3-K9 acetylation","positive regulation of histone H4-K16 acetylation"],"goCellularComponent":["ubiquitin ligase complex","lateral element","nucleus","nucleoplasm","chromosome","cytoplasm","plasma membrane","gamma-tubulin ring complex","BRCA1-BARD1 complex","protein-containing complex","BRCA1-A complex","ribonucleoprotein complex"],"goMolecularFunction":["DNA binding","damaged DNA binding","transcription coactivator activity","RNA binding","ubiquitin-protein transferase activity","protein binding","zinc ion binding","tubulin binding","enzyme binding","ubiquitin protein ligase binding","identical protein binding","transcription regulatory region DNA binding","androgen receptor binding","RNA polymerase binding"],"tissueSpecificityUniprot":["Isoform 1 and isoform 3 are widely expressed. Isoform 3 is reduced or absent in several breast and ovarian cancer cell lines."],"expressionEgenetics":["cervix","spleen","liver","endometrium","skin","stomach","bone","germinal center","testis","brain","unclassifiable (Anatomical System)","lung","kidney","ovary","lymph node","colon","bile duct","placenta","prostate","mammary gland","skeletal muscle","breast","islets of Langerhans","visual apparatus"],"expressionGnfAtlas":["pons","ciliary ganglion","appendix","tumor","dorsal root ganglion","atrioventricular node","superior cervical ganglion","testis","skeletal 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A]","PPIA[NA]","MTHFD1L[NA]","ALPI[NA]","PSMD12[NA]","NOC3L[NA]","TRMT61A[NA]","ACADM[NA]","RPL7A[NA]","XPNPEP3[NA]","MRPS34[NA]","EEF1B2[NA]","SLC1A5[NA]","CACYBP[NA]","HNRNPDL[NA]","SGPL1[NA]","SF1[NA]","HNRNPF[NA]","RPS26P11[NA]","LUC7L[NA]","PA2G4[NA]","IDH2[NA]","SMC2[NA]","NXF1[NA]","HYOU1[NA]","GRWD1[NA]","VDAC2[NA]","TMLHE[NA]","DDX20[NA]","DCTN1[NA]","HSPA14[NA]","LBR[NA]","DES[NA]","CCT7[NA]","UBE2O[NA]","LRPPRC[NA]","RPL15[NA]","SLC32A1[NA]","SNRPA1[NA]","JUND[NA]","MRPS35[NA]","SSB[NA]","TRIP12[NA]","FAM98B[NA]","TPM1[NA]","CHCHD3[NA]","EIF2S3[NA]","EXOSC7[NA]","MARS[NA]","HSPA4L[NA]","ARF1[NA]","PSMB5[NA]","EPB41L5[NA]","RPL19[NA]","MRPL15[NA]","COPB1[NA]","PIP4K2A[NA]","CCT6A[NA]","FHOD1[NA]","RTRAF[NA]","NEFM[NA]","G3BP1[NA]","CPSF7[NA]","NAA50[NA]","KRI1[NA]","CORO1C[NA]","ALDH18A1[NA]","UBE2M[NA]","SMCHD1[NA]","EIF3E[NA]","CSNK1A1L[NA]","CSNK2A1[NA]","RPS25[NA]","RPS14[NA]","RACK1[NA]","ATAD3A[NA]","RPS27L[NA]","RARS[NA]","VIM[NA]","SF3B3[NA]","EIF3A[NA]","PRKCSH[NA]","ABCE1[NA]","KTN1[NA]","RPL17[NA]","RPL38[NA]","LSG1[NA]","RBM14[NA]","XRN2[NA]","PSMC1[NA]","TUBB2B[NA]","PDHX[NA]","PPP1CB[NA]","PLRG1[NA]","RRS1[NA]","GPI[NA]","CSRP2[NA]","ALYREF[NA]","RPS7[NA]","LDHB[NA]","EIF5B[NA]","PDHB[NA]","PRSS3[NA]","RRBP1[NA]","NUP155[NA]","EEF1A1[NA]","EPB41L3[NA]","PHB[NA]","ALDH1B1[NA]","SLC3A2[NA]","SAR1A[NA]","HNRNPA2B1[NA]","ATP5PO[NA]","ACTB[NA]","DCTN2[NA]","PRPF31[NA]","SRPRA[NA]","MRPS15[NA]","CMSS1[NA]","POLR2E[NA]","C18orf25[NA]","ARSJ[NA]","GTF2I[NA]","FUS[NA]","TUFM[NA]","U2SURP[NA]","DNMT1[NA]","EIF2AK2[NA]","CANX[NA]","RPL36A[NA]","CKMT1A[NA]","POTEKP[NA]","PSMA2[NA]","USP39[NA]","GAPDH[NA]","HNRNPA1L2[NA]","HSP90AA2P[NA]","TRIM28[NA]","ATXN2[NA]","MCM2[NA]","CALD1[NA]","COPG1[NA]","IBA57[NA]","HSP90AB3P[NA]","PABPC1[NA]","RPS18[NA]","PSMC2[NA]","SFPQ[NA]","MGST2[NA]","PUF60[NA]","UQCRC2[NA]","PRMT5[NA]","ATAD3B[NA]","RBM27[NA]","NAT10[NA]","TRIM33[NA]","MSH2[NA]","HSPA4[NA]","HNRNPA1[NA]","EIF3B[NA]","SNRPB2[NA]","SSRP1[NA]","BRIX1[NA]","TES[NA]","PRKDC[NA]","CDK11A[NA]","RPL26L1[NA]","PPP2R1A[NA]","EXOSC9[NA]","MTDH[NA]","LIG3[NA]","PSME4[NA]","RAN[NA]","RAD18[NA]","PLK1[NA]","PDK3[NA]","SRSF4[NA]","SF3B1[NA]","RPS28[NA]","PSMD6[NA]","SERBP1[NA]","TFB1M[NA]","ECH1[NA]","MRPL40[NA]","RPL27[NA]","ARPC4[NA]","H1FX[NA]","ACTA2[NA]","NOP56[NA]","XRN1[NA]","PHB2[NA]","FOXRED1[NA]","EXD2[NA]","IDH3B[NA]","ATF7[NA]","HSPA9[NA]","RPL13[NA]","PCMTD1[NA]","TFRC[NA]","WDR83[NA]","PDCD11[NA]","PWP2[NA]","PCMTD2[NA]","DDOST[NA]","SLC25A3[NA]","IQGAP1[NA]","ZNF326[NA]","HIST1H1C[NA]","PPP2CA[NA]","NUDT21[NA]","PRMT3[NA]","HNRNPL[NA]","MAGED2[NA]","EIF4G1[NA]","LRP5[NA]","PMPCB[NA]","TARDBP[NA]","UBA1[NA]","PABPC4[NA]","IGF2BP2[NA]","FLNC[NA]","CKB[NA]","TSR1[NA]","DDX3X[NA]","AHCYL1[NA]","CUL4A[NA]","AGAP3[NA]","PFN1[NA]","RPS6KB2[NA]","DDX41[NA]","MRPS33[NA]","MRPS31[NA]","MYBBP1A[NA]","GYS2[NA]","FHL1[NA]","RRP1B[NA]","EIF2S2[NA]","TUBB[NA]","CSNK2A2[NA]","C1QBP[NA]","YARS2[NA]","SPATA5L1[NA]","FASN[NA]","TERF2IP[NA]","YTHDF2[NA]","AFG3L2[NA]","DIS3[NA]","ZC3HAV1L[NA]","LARP4B[NA]","GOT2[NA]","OAT[NA]","GFM2[NA]","PSMD4[NA]","AP3B1[NA]","DHX37[NA]","EZR[NA]","LARS[NA]","DHX36[NA]","YWHAB[NA]","RFC1[NA]","RPL24[NA]","GABARAPL2[NA]","PPP1R12A[NA]","HIST1H2BC[NA]","TERF2[NA]","SNRPD3[NA]","LDHA[NA]","CHAF1B[NA]","HNRNPK[NA]","EXOSC2[NA]","MAP1A[NA]","TRA2B[NA]","NMD3[NA]","HSPA1L[NA]","RAB10[NA]","TUBB3[NA]","SMC4[NA]","PSMD3[NA]","ACSL3[NA]","CLIC1[NA]","HNRNPAB[NA]","CPSF2[NA]","KIFAP3[NA]","ARCN1[NA]","AMOT[NA]","SLC33A1[NA]","RPS3A[NA]","DYNC2H1[NA]","AK2[NA]","ADD1[NA]","TRMT1L[NA]","ACTN1[NA]","RPL30[NA]","HNRNPU[NA]","PRRC2B[NA]","MDH2[NA]","MAP7D1[NA]","RAB11FIP1[NA]","MRPL4[NA]","ANKRD17[NA]","ST13[NA]","HNRNPA3[NA]","HNRNPUL1[NA]","NAP1L4[NA]","RPS24[NA]","SLC4A1AP[NA]","MRPL2[NA]","C1orf35[NA]","HSP90AB2P[NA]","HPRT1[NA]","PPM1G[NA]","QARS[NA]","HIST1H2AA[NA]","NLE1[NA]","SRPRB[NA]","TMED10[NA]","PRPF6[NA]","ARHGDIA[NA]","UFL1[NA]","RPS13[NA]","PSMD11[NA]","HIST1H4A[NA]","SPTAN1[NA]","IMP3[NA]","TOP2A[NA]","DLAT[NA]","SF3A3[NA]","NDUFS8[NA]","RPL26[NA]","YWHAZ[NA]","HEATR3[NA]","FXR2[NA]","FKBP4[NA]","MSI1[NA]","RPL10A[NA]","SART3[NA]","NOP58[NA]","ANKRD42[NA]","GLDC[NA]","CCT3[NA]","ATP5F1B[NA]","EGLN1[NA]","KHDRBS1[NA]","ILF3[NA]","SNX6[NA]","MYH10[NA]","WDR5[NA]","SYNE2[NA]","SFXN1[NA]","ATP6V1B1[NA]","AP2B1[NA]","MRPL46[NA]","RPS3[NA]","HSPH1[NA]","GTPBP1[NA]","SLC25A19[NA]","TUBA1B[NA]","HSDL2[NA]","PSMC4[NA]","DNAJC13[NA]","HIST1H2AB[NA]","TP53[NA]","RPL31[NA]","POP7[NA]","RUVBL1[NA]","RPLP0[NA]","GDI2[NA]","STIP1[NA]","DYNC1I2[NA]","GARS[NA]","VASP[NA]","GYS1[NA]","HSPD1[NA]","MCTS1[NA]","LCP1[NA]","DDX6[NA]","MAGT1[NA]","NOP9[NA]","ETF1[NA]","NDUFV2[NA]","MTPAP[NA]","RBM39[NA]","PRKAR2A[NA]","DDX50[NA]","TBR1[NA]","NIFK[NA]","NONO[NA]","SRSF3[NA]","HSP90AA1[NA]","PRPF4[NA]","EIF5A[NA]","CDC42[NA]","TXNDC5[NA]","HNRNPR[NA]","ARGLU1[NA]","HSD17B10[NA]","RPS11[NA]","RPL5[NA]","MRPL58[NA]","NAP1L1[NA]","CDK12[NA]","SNRNP70[NA]","MRPS11[NA]","SRP68[NA]","RPL7L1[NA]","EIF3M[NA]","EIF5[NA]","ADD3[NA]","FBL[NA]","RORC[NA]","MRE11[NA]","MRPL18[NA]","DHX8[NA]","PSMA7[NA]","CKAP5[NA]","GPATCH11[NA]","RANBP9[NA]","PCMT1[NA]","MOV10[NA]","HCFC1[NA]","RNH1[NA]","ERI3[NA]","TFCP2[NA]","SEMG1[NA]","TBL2[NA]","EEF1E1[NA]","ANXA2[NA]","EFTUD2[NA]","TRIM25[NA]","ZNF207[NA]","NMT1[NA]","HSD17B4[NA]","DHX30[NA]","MRPL38[NA]","MCM5[NA]","RPL10[NA]","SNAP91[NA]","MTA1[NA]","PSMD13[NA]","VPS35[NA]","SLC25A11[NA]","ZNF768[NA]","SH3D21[NA]","SNRNP200[NA]","RPL35[NA]","KIF5B[NA]","LUC7L3[NA]","NOMO1[NA]","TMPO[NA]","TBL3[NA]","UPF2[NA]","CPSF3[NA]","KARS[NA]","PCBP2[NA]","CAPZA1[NA]","LYAR[NA]","PCNA[NA]","EIF3C[NA]","XRCC5[NA]","RPL37A[NA]","SRSF1[NA]","RPLP0P6[NA]","DDX46[NA]","ARIH1[NA]","DDX54[NA]","PSMD1[NA]","PLS1[NA]","VN1R5[NA]","GSTP1[NA]","ERLIN1[NA]","PES1[NA]","DNAJA3[NA]","PRPSAP1[NA]","XRCC6[NA]","WDR82[NA]","LRRC47[NA]","DHX9[NA]","RPS8[NA]","DRG1[NA]","ACLY[NA]","AIMP1[NA]","HNRNPM[NA]","AP3M1[NA]","MYL6B[NA]","CAD[NA]","HAT1[NA]","LANCL1[NA]","CRLF3[NA]","SNRPD1[NA]","KIF2A[NA]","VARS[NA]","JUN[NA]","CFAP20[NA]","MICU2[NA]","MTHFR[NA]","TIMM23B[NA]","ARL1[NA]","CLTC[NA]","HNRNPCL1[NA]","MRPS22[NA]","HSPA8[NA]","NEMF[NA]","TUBA4A[NA]","EXOSC10[NA]","MAP1B[NA]","MTREX[NA]","RSL1D1[NA]","CAND1[NA]","EBNA1BP2[NA]","FLII[NA]","YWHAE[NA]","COPB2[NA]","PRDX3[NA]","NOSIP[NA]","BCAS2[NA]","ZC3H15[NA]","EIF2B3[NA]","EIF3F[NA]","MRPS2[NA]","IPO8[NA]","CMAS[NA]","LSM12[NA]","HSP90B1[NA]","RPL27A[NA]","MAP4K4[NA]","GART[NA]","G3BP2[NA]","SF3B4[NA]","AFDN[NA]","RBM4[NA]","RPL36[NA]","PARP1[NA]","EIF3D[NA]","RPL4[NA]","DLST[NA]","CSDE1[NA]","SRSF7[NA]","USP7[NA]","RPL14[NA]","RPN2[NA]","TALDO1[NA]","SF3A1[NA]","ATP5F1A[NA]","RPL12[NA]","RPS29[NA]","LARP1[NA]","AIFM1[NA]","MYH11[NA]","POLDIP3[NA]","MRPS18A[NA]","LRRC40[NA]","FHL3[NA]","TARS[NA]","ISG20L2[NA]","MYL12A[NA]","HSD17B11[NA]","XPOT[NA]","ISOC1[NA]","MYLK[NA]","VDAC1[NA]","CRKL[NA]","HP1BP3[NA]","COPS4[NA]","PAICS[NA]","TKT[NA]","U2AF2[NA]","PRPH[NA]","PURA[NA]","PHF6[NA]","DDX56[NA]","LAP3[NA]","ALDOA[NA]","HDAC1[NA]","WDR18[NA]","RPL13A[NA]","SLC25A13[NA]","NDUFA6[NA]","FBXO22[NA]","PSMC5[NA]","DHX16[NA]","C7orf50[NA]","MTAP[NA]","RUVBL2[NA]","RFC2[NA]","NDUFS3[NA]","YBX3[NA]","HSP90AA5P[NA]","DDX27[NA]","RPS12[NA]","KPNA2[NA]","PRDX6[NA]","SF3B2[NA]","ENO1[NA]","TRAP1[NA]","C11orf98[NA]","NCBP1[NA]","EIF2B4[NA]","GTSE1[NA]","ATF3[NA]","SRSF6[NA]","TCP1[NA]","SMU1[NA]","PSMA6[NA]","RPS26[NA]","RPUSD3[NA]","RPL18A[NA]","AP2S1[NA]","SSR3[NA]","CCT8[NA]","CAPRIN1[NA]","CBR1[NA]","CHTOP[NA]","WARS[NA]","CREB5[NA]","SLC25A1[NA]","RPL3[NA]","EIF6[NA]","GTF3C1[NA]","SNW1[NA]","PSMB6[NA]","CYC1[NA]","CAP1[NA]","PPIB[NA]","SERPINH1[NA]","MB21D2[NA]","DARS[NA]","ATF2[NA]","GTF3C5[NA]","RTCB[NA]","PTBP2[NA]","MYO1C[NA]","MRPL22[NA]","NDUFA9[NA]","ASNS[NA]","SND1[NA]","PCBP1[NA]","RPL35A[NA]","RPS16[NA]","TUBB1[NA]","MOGS[NA]","SEPT2[NA]","PHGDH[NA]","CFL1[NA]","EXOC4[NA]","BUB3[NA]","GRPEL1[NA]","HIST1H1A[NA]","SRSF9[NA]","ZYX[NA]","RPLP1[NA]","RPS17[NA]","ADAR[NA]","NOM1[NA]","RPL21[NA]","CPSF6[NA]","PSMC6[NA]","RPS10P5[NA]","EIF2S1[NA]","RFC3[NA]","RBM34[NA]","NELFB[NA]","EIF2B5[NA]","NPEPPS[NA]","RPL6[NA]","PSMA4[NA]","ZC3H7B[NA]","ETFA[NA]","UQCRFS1P1[NA]","DHRS7B[NA]","TUBB6[NA]","RPL11[NA]","CSNK1D[NA]","NIPSNAP2[NA]","CCT2[NA]","EIF2A[NA]","FOSB[NA]","CUL5[NA]","NUDC[NA]","TMCO1[NA]","FIGNL1[NA]","TBC1D4[NA]","CSNK1A1[NA]","RRP1[NA]","DAZAP1[NA]","SRSF11[NA]","DDX47[NA]","MRS2[NA]","PPP2R2A[NA]","DDX17[NA]","KPNA4[NA]","PWP1[NA]","PABPN1[NA]","PKM[NA]","ATP1A1[NA]","SNRPB[NA]","PTBP1[NA]","RPF2[NA]","MAPK1[NA]","MRPS27[NA]","RAB1A[NA]","HSPA2[NA]","RTCA[NA]","FXR1[NA]","NACA[NA]","FARSA[NA]","WDR3[NA]","RPL29[NA]","PRDX2[NA]","RECQL[NA]","TMEM109[NA]","ATP5F1C[NA]","POLRMT[NA]","RPS23[NA]","DHX29[NA]","EWSR1[NA]","IARS[NA]","RPS9[NA]","EMG1[NA]","RPL9[NA]","ABCD3[NA]","RPS5[NA]","DPM1[NA]","PRPF8[NA]","DDX39A[NA]","PGK1[NA]","ELP1[NA]","CSTB[NA]","ABCF1[NA]","NSUN2[NA]","IRS4[NA]","DDX52[NA]","PSMD7[NA]","SMAP1[NA]","NBR1[NA]","MT-CO2[NA]","TMPO[NA]","MRPL1[NA]","RPL23[NA]","CC2D1A[NA]","RFC5[NA]","PYCR1[NA]","CNOT1[NA]","THOC2[NA]","CCT4[NA]","TFIP11[NA]","EEF2[NA]","MRPS5[NA]","IGF2BP3[NA]","MEF2A[NA]","RBM28[NA]","UMPS[NA]","HSPA5[NA]","DCAF6[NA]","HNRNPA0[NA]","GCN1[NA]","STRAP[NA]","TUBB4B[NA]","RPN1[NA]","DDX24[NA]","TUBB4A[NA]","P4HB[NA]","TRMT6[NA]","UPF3B[NA]","POP1[NA]","KRR1[NA]","SRRT[NA]","BYSL[NA]","LETM1[NA]","MRPS18B[NA]","ATP6V1E1[NA]","KIF5A[NA]","SCAF8[NA]","PRIM2[NA]","GMPS[NA]","GPX4[NA]","LARP7[NA]","RPL23A[NA]","ELOB[NA]","HIST1H2BA[NA]","ATP2A2[NA]","SSBP1[NA]","SRSF2[NA]","LUC7L2[NA]","HNRNPC[NA]","STIM1[NA]","MYL6[NA]","RPL8[NA]","DNAJB1[NA]","HNRNPD[NA]","SART1[NA]","MRPS9[NA]","PHAX[NA]","CDC73[NA]","ANKHD1[NA]","HNRNPH3[NA]","IPO9[NA]","USP10[NA]","DDX31[NA]","MRPS14[NA]","PSMD2[NA]","SLC25A5[NA]","WDR45B[NA]","GFPT1[NA]","POLR1C[NA]","MYH14[NA]","RANBP1[NA]","NRDC[NA]","PSMC3[NA]","UBE2L3[NA]","PRPF40A[NA]","EXOSC8[NA]","KIFC1[NA]","IMMT[NA]","DNAJC7[NA]","CSE1L[NA]","DLD[NA]","TROVE2[NA]","TOP1[NA]","DYNC1H1[NA]","RPL22[NA]","RPL10L[NA]","MRPL37[NA]","PTPN1[NA]","CPOX[NA]","LARP4[NA]","CDC37[NA]","RRP12[NA]","PRPF19[NA]","ABCF2[NA]","RPP30[NA]","SUPT16H[NA]","ACTR1A[NA]","ACAD11[NA]","GABARAP[NA]","ZFR[NA]","MCM3[NA]","CKAP2[NA]","SNRPD2[NA]","FLNA[NA]","MYH9[NA]","HDLBP[NA]","EEF1G[NA]","SLC25A4[NA]","RPS2[NA]","DDX23[NA]","CCT5[NA]","MDH1[NA]","NOC4L[NA]","EIF2B1[NA]","RNGTT[NA]","PSMB1[NA]","H1F0[NA]","FEN1[NA]","PDIA3[NA]","DIMT1[NA]","SRPK1[NA]","YTHDC2[NA]","CIRBP[NA]","DKC1[NA]","TARSL2[NA]","RPS4X[NA]","PGAM1[NA]","ATP2A1[NA]","EIF4A3[NA]","SSR4[NA]","CCNB1[NA]","EPRS[NA]","SDHB[NA]","CTNNBL1[NA]","LRRC59[NA]","ERLIN2[NA]","RPS20[NA]","RPS10[NA]","TARS2[NA]","EEF1D[NA]","SARS2[NA]","PYM1[NA]","DBT[NA]","PPP1CA[NA]","EIF3L[NA]","GNB1[NA]","POLDIP2[NA]","AASDHPPT[NA]","SHMT1[NA]","DHX15[NA]","SNX1[NA]","CAMK2D[NA]","RPL28[NA]","SHMT2[NA]","PIK3R1[0.998]","ORC3[0.999]","POMGNT1[0.939]","LMO4[0.999]","E2F1[0.999]","JUNB[0.995]","TOPBP1[0.999]","BACH1[0.705]","TPX2[0.999]","BRCA2[0.999]","CTBP1[0.999]","BRCC3[1]","MYC[0.999]","JUND[0.992]","ATF1[0.995]","EXD2[0.068]","LDB2[0.989]","CLSPN[0.996]","CDK2[NA]","CCNA2[NA]","STAT1[0.999]","EP300[0.999]","POLR2K[0.995]","CSNK2B[0.999]","TUBG1[1]","NBN[0.999]","UBE2L3[0.999]","SMARCA4[0.999]","CASP3[0.999]","PSAP[0.855]","NUFIP1[0.998]","CCNB1[0.999]","ANTXR1[0.863]","STAT5A[0.997]","H2AFY[0.999]","MLH1[0.999]","NFYA[0.999]","RBBP8[NA]","LDB1[NA]","LMO4[NA]","RBBP7[0.999]","BARD1[NA]","CSTF2[NA]","CSTF1[NA]","POLR2A[0.999]","E2F4[0.999]","UBE2D3[0.999]","SP1[0.998]","LMO4[NA]","RBBP8[NA]","AURKB[NA]","TACC1[NA]","BRCA2[NA]","BARD1[NA]","DCLRE1C[0.998]","YY1[0.999]","POU2F1[0.999]","CREBBP[0.999]","CSTF1[0.986]","CCNA2[0.997]","CDK4[0.999]","UBB[0.999]","NMI[0.524]","STAT3[0.999]","RAD50[NA]","MSH6[NA]","MSH2[NA]","KAT2A[NA]","TRRAP[NA]","RAD51[0.999]","CCNA1[0.999]","TUBA4A[0.998]","HDAC1[0.999]","CSNK2A1[0.999]","CDK1[0.999]","ALDH1A1[0.139]","NFKB1[0.999]","ATR[0.999]","RB1[0.077]","NBN[NA]","MSH2[NA]","MRE11[NA]","RFC1[NA]","MLH1[NA]","MSH6[NA]","BLM[NA]","RAD50[NA]","ATM[NA]","SMAD2[0.999]","SMAD4[0.999]","RBBP4[0.999]","CHEK2[0.999]","MED21[0.992]","MED1[0.999]","SMARCA2[0.999]","DHX9[0.999]","NPM1[NA]","BARD1[NA]","USF2[0.978]","POLR2A[NA]","BARD1[NA]","SMARCA4[NA]","MED17[NA]","ELK1[0.979]","HDAC2[0.999]","POLR2L[NA]","POLR2I[NA]","POLR2K[NA]","POLR2F[NA]","POLR2E[NA]","POLR2D[NA]","POLR2C[NA]","POLR2G[NA]","POLR2J[NA]","POLR2B[NA]","POLR2A[NA]","POLR2H[NA]","POLR2A[NA]","BARD1[NA]","CDK7[0.999]","RFC1[0.999]","XRCC1[0.992]","TRRAP[0.999]","KPNA6[0.585]","TUBB[0.999]","VCP[0.999]","ATM[0.999]","MAP3K3[0.967]","CDK2[1]","RELA[0.999]","ZNF350[NA]","RBBP8[NA]","CSTF1[NA]","BARD1[NA]","CSTF2[NA]","CSTF3[NA]","TADA3[NA]","TRRAP[NA]","KAT2A[NA]","MSH2[NA]","TAF9[NA]","TAF10[NA]","TAF5L[NA]","SUPT3H[NA]","MSH6[NA]","RAD50[NA]","MSH6[NA]","MSH6[NA]","BLM[NA]","RFC2[NA]","MLH1[NA]","MSH2[NA]","RFC4[NA]","RFC1[NA]","RFC2[NA]","ATM[NA]","RFC1[NA]","MLH1[NA]","RFC4[NA]","MLH1[NA]","ATM[NA]","MSH6[NA]","BLM[NA]","RAD50[NA]","NBN[NA]","RFC4[NA]","RFC2[NA]","MRE11[NA]","RFC1[NA]","MSH2[NA]","SMARCE1[NA]","SMARCA4[NA]","SMARCC2[NA]","SMARCC1[NA]","SMARCD2[NA]","SMARCA2[NA]","SMARCB1[NA]","ARID1A[NA]","ACTL6A[NA]","MRE11[NA]","NBN[NA]","RAD50[NA]","RAD50[0.999]","GTF2F2[NA]","POLR2B[NA]","ERCC2[NA]","GTF2H2[NA]","MED21[NA]","POLR2D[NA]","GTF2H1[NA]","POLR2E[NA]","POLR2F[NA]","POLR2K[NA]","ERCC3[NA]","POLR2L[NA]","POLR2I[NA]","GTF2H4[NA]","POLR2H[NA]","GTF2E2[NA]","GTF2F1[NA]","POLR2A[NA]","GTF2E1[NA]","POLR2G[NA]","GTF2H3[NA]","POLR2J[NA]","GTF2B[NA]","POLR2C[NA]","TBP[NA]","BRCA2[NA]","BRCC3[NA]","BABAM2[NA]","RAD51[NA]","UIMC1[NA]","BARD1[NA]","RBBP8[NA]","ABRAXAS1[NA]","BARD1[NA]","UIMC1[NA]","BARD1[NA]","BACH1[NA]","NBN[NA]","BACH1[NA]","MRE11[NA]","RBBP8[NA]","RAD50[NA]","BARD1[NA]","TOPBP1[NA]","HDAC2[NA]","HDAC1[NA]","BACH1[NA]","MLH1[NA]","MSH6[NA]","TOPBP1[NA]","BARD1[NA]","BARD1[NA]","BRCA2[NA]","MSH2[0.999]","MSH6[0.999]","UBE2D1[0.998]","CTCFL[0.5]","KIF1B[0.996]","MSH3[0.999]","NCOA2[0.999]","NCOA3[0.996]","MAP4K4[0.695]","NUP153[0.999]","DNAJA3[0.999]","CDK8[0.999]","ELK4[0.494]","BLM[0.999]","MRE11[0.999]","HSPA8[0.999]","CDK16[0.011]","BABAM2[0.999]","CSTF2[0.999]","MED17[0.999]","RBL1[0.999]","RBL2[0.999]","APLP2[0.793]","PEG3[0.390]","RPL31[0.999]","WNT2B[0.299]","PRKDC[0.999]","HIST2H3A[0.999]","UBE3A[0.998]","ETS1[0.999]","FLI1[0.974]","GTF2E1[0.985]","GTF2F1[0.999]","GTF2H4[0.999]","SMARCB1[0.998]","SMARCC2[0.989]","SMARCC1[0.993]","SMARCD2[0.983]","ORC2[0.999]","PPP1R3A[0.025]","WDR48[0.899]","BRD7[0.957]","PIAS4[0.998]","PIAS1[0.998]","UBE2I[0.999]","TERF1[0.999]","TERF2[0.999]","XRCC5[0.999]","NPM1[0.999]","ARNT[0.999]","FOXO3[0.999]","RPA1[0.999]","CDKN2D[0.969]","PRMT1[0.982]","MORF4L1[0.999]","MRPL36[0.997]","UBE2T[0.999]","UBE2D2[0.064]","MTA2[0.999]","BABAM1[0.999]","HERC2[0.994]","POLR2H[0.999]","PGR[0.994]","UBXN1[0.998]","UBE2E1[0.999]","UBE2E2[0.999]","UBE2E3[0.992]","UBE2W[0.997]","UBE2K[0.930]","UBE2N[0.999]","HIST2H2AC[0.999]","PAX2[0.998]","ZBTB14[0.420]","AP2A1[0.998]","TP63[0.999]","TFAP2A[0.997]","TFAP2C[0.998]","ETV5[0.998]","EZR[0.999]","RDX[0.999]","MSN[0.998]","VDR[0.996]","TFAP4[0.994]","CCAR2[0.957]","ATRIP[0.995]","TP73[0.999]","PCLAF[0.890]","HIF1A[0.999]","AHR[0.999]","NINL[0.998]","CCNH[0.999]","PABPC1[0.999]","MAPK3[0.999]","MAPK1[0.999]","CTNNB1[0.999]","SKP1[0.999]","FBXO44[1]","SKP2[0.999]","FBXO5[0.999]","SH2B1[0.621]","RICTOR[0.996]","MTOR[0.999]","ACTG1[0.999]","ALDH9A1[0.958]","ATP1B1[0.993]","ATP1B3[0.986]","CDK9[0.999]","COL1A1[0.471]","DCN[0.006]","DYNC1H1[0.999]","EIF4A2[0.993]","ENO1[0.992]","DNAJA1[0.725]","DNAJB1[0.923]","INPP1[0.005]","LDHC[0.570]","MAN2C1[0.004]","MAP3K1[0.994]","MT-ND1[0.005]","PPP2R5C[0.999]","PREP[0.573]","PSMA6[0.999]","AURKC[0.998]","TARS[0.969]","TLE4[0.963]","TULP2[0.093]","USH2A[0.994]","ZSCAN21[0.401]","CUBN[0.995]","PSMG1[0.355]","EIF3B[0.988]","SNX3[0.928]","ASH2L[0.996]","USP2[0.998]","GTF3C4[0.999]","EIF5B[0.561]","TATDN2[0.924]","CRYZL1[0.854]","RANBP9[0.998]","NPC2[0.214]","DBF4[0.988]","SOX30[0.975]","HIBADH[0.956]","WDR6[0.963]","SNRNP200[0.999]","KDM1A[0.999]","PISD[0.999]","CNRIP1[0.004]","CABYR[0.950]","PILRB[0.159]","HSPA14[0.970]","LCMT1[0.005]","PPHLN1[0.519]","RNF216[0.5]","SDK2[0.040]","ZNF280D[0.412]","CNTLN[0.992]","DALRD3[0.635]","ERO1B[0.941]","DDX24[0.951]","RPGRIP1[0.856]","PHF12[0.993]","SNX6[0.975]","HECTD3[0.133]","ITIH5[0.005]","RCC1L[0.005]","TEX101[0.925]","THOC3[0.996]","TPTE2[0.711]","SPATA4[0.004]","DNHD1[0.999]","COMMD1[0.999]","CNTN4[0.806]","GGN[0.904]","RWDD4[0.004]","RTKN2[0.168]","NKAPL[0.004]","TCTEX1D2[0.004]","TSEN54[0.984]","CRIPAK[0.822]","GUSBP1[0.005]","CAPZB[0.999]","FLNA[0.999]","XRCC6[0.999]","DRG1[0.986]","YBX1[0.999]","POLR2C[0.999]","POLR2D[0.999]","POLR2E[0.999]","POLR2G[0.999]","POLR2I[0.999]","POLR2J[0.999]","PPP2CA[0.999]","PPP6C[0.534]","RFC2[0.999]","SRSF1[0.999]","STRN[0.997]","SUPT6H[0.998]","TPM1[0.999]","TPM3[0.985]","YWHAZ[0.999]","RNGTT[0.990]","RECQL5[0.997]","RACK1[0.999]","FGFR1OP[0.996]","COPE[0.994]","GPN1[0.262]","PHB2[0.998]","ANKRD26[1]","PPP6R1[0.893]","ANKRD28[0.977]","ZDHHC5[0.022]","MRM2[0.995]","GPN3[0.999]","RPRD1A[1]","PPP6R3[0.905]","CDKN2AIP[0.968]","PRR5[0.078]","RPRD1B[1]","MAPKAP1[0.934]","RPAP3[0.005]","BORA[0.038]","RPAP2[0.999]","PPP1R9B[0.999]","ANKRD44[0.004]","PPP1R18[0.570]","VSIG8[0.024]","CEP350[0.960]","FLII[0.958]","CETN1[0.996]","ODF2[0.999]","GATA3[0.999]","RPSA[0.999]","XIAP[0.958]","CASP9[0.996]","EIF4G1[0.994]","RAD18[0.998]","MATK[0.653]","HLTF[0.976]","POLH[0.995]","REV1[0.989]","HIVEP1[0.580]","JUP[0.999]","PEX5[0.855]","HNRNPD[0.999]","NFE2L2[0.991]","HUWE1[0.998]","PLK1[0.999]","EZH2[0.999]","SUZ12[0.999]","EED[0.999]","HSP90AA1[0.990]","BECN1[0.998]","OLA1[0.617]","HIST1H2AB[0.999]","SUPT5H[0.997]","ACTN3[0.999]","RUNX1T1[0.905]","CLK2[0.931]","CRY2[0.907]","CSNK1D[0.999]","DES[0.996]","DHPS[0.988]","HGF[0.978]","LCK[0.986]","PRKAA2[0.999]","PSMD9[0.999]","TCEA2[0.990]","ELOA[0.999]","NRIP1[0.999]","PPFIA1[0.605]","AP1M1[0.970]","MAP3K14[0.807]","PRPF3[0.999]","FXR2[0.970]","POM121[0.998]","RWDD2B[0.004]","MCRS1[0.999]","KAT5[0.999]","MID2[0.989]","ABLIM3[0.586]","SETX[0.964]","ZNF423[0.422]","PPP1R13B[0.972]","TNS2[0.732]","PRKAG3[0.985]","MYOZ1[0.984]","MARCKSL1[0.994]","GCC1[0.838]","FAM184A[0.004]","RTL10[0.004]","OBSCN[0.771]","HORMAD1[0.930]","FAM161A[1]","BRSK1[0.989]","CCDC120[0.005]","SSX2IP[0.998]","CWF19L2[0.004]","SYT6[0.893]","C2CD6[0.004]","LMNTD1[0.991]","TCEANC[0.971]","TXLNA[0.090]","TSGA10IP[0.005]","TMPRSS12[0.031]","CEP57L1[0.005]","STAC2[0.006]","GOLGA8DP[0.844]","CENPB[0.943]","DDB1[0.999]","DDX54[0.993]","EBNA1BP2[0.938]","FAM83A[0.004]","GAR1[0.999]","GNL3L[0.965]","HERC1[0.811]","NAT10[0.928]","NOP2[0.996]","NUMA1[0.999]","PGAM5[0.912]","PMS2[0.999]","RBM28[0.994]","RCL1[0.967]","RPL21[0.999]","RPL28[0.999]","RPL3[0.999]","RPL32[0.999]","RPL34[0.999]","RPS27[0.999]","RPS7[0.999]","RSL1D1[0.995]","RUVBL2[0.999]","ZC3HAV1[0.494]","ABCF2[0.995]","AFAP1[0.987]","CBX3[0.999]","CDC16[0.999]","CDCA2[0.472]","CEBPB[0.999]","UTP4[0.969]","CMAS[0.999]","CREB5[0.872]","DDX23[0.999]","DDX39A[0.995]","DNMT1[0.998]","FLYWCH1[0.405]","GATAD2B[0.991]","GTF2IRD1[0.524]","KIF20A[0.999]","KIF22[0.999]","MKI67[0.990]","MORF4L2[0.951]","NIPBL[0.999]","NOL11[0.966]","NABP2[0.998]","PCNA[0.999]","RAD21[0.999]","RFC4[0.999]","RNF169[0.005]","RPS13[0.999]","SLAIN2[0.995]","SMARCA5[0.999]","SMC3[0.999]","TONSL[0.999]","USP7[0.997]","WAPL[0.999]","WIZ[0.324]","ZC3H11A[0.011]","SSRP1[0.998]","SUPT16H[0.999]","IFI30[0.952]","ITPR1[0.804]","LGALS3[0.992]","NCOA1[0.999]","HIST1H2BC[0.999]","PARP1[0.999]","PARG[0.979]","PSMA7[0.999]","CBX5[0.999]","CBX1[0.999]","USP37[0.998]","PYCARD[0.907]","CASP1[0.723]","ZMIZ1[0.991]","CDC25C[0.995]","ERCC5[0.999]","POLR1A[0.999]","UBTF[0.996]","TAF1B[0.985]","KEAP1[0.999]","POLN[0.997]","NME1[0.999]","GRN[0.354]","LGALS3BP[0.019]","CEP72[0.990]","HCFC1[0.999]","TPI1[0.505]","ZFR[0.839]","IGF2BP3[0.937]","SLC39A6[0.956]","ATXN2L[0.537]","UBAP2[0.004]","NUP214[0.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]","AIMP1[0.996]","ZNF326[0.906]","OGT[0.999]","SRP72[0.999]","NUP107[0.999]","FKBP4[0.999]","CPOX[0.960]","DDX17[0.998]","DCTN1[0.999]","TCOF1[0.915]","MAGEB2[0.005]","PDS5A[0.996]","STRAP[0.999]","ANXA1[0.999]","PFKP[0.867]","CAMK2D[0.995]","TTN[0.997]","TKT[0.753]","PFKM[0.966]","CDC37[0.812]","NOP56[0.999]","DPY30[0.993]","DIMT1[0.970]","KLHL22[1]","EIF3H[0.988]","ANXA5[0.876]","PHGDH[0.884]","GPR161[0.122]","EIF3M[0.992]","RNMT[0.998]","APEH[0.990]","HP1BP3[0.993]","FAM98A[0.004]","EIF3L[0.999]","SPAG9[0.631]","UCHL5[0.999]","OGFR[0.005]","XRN2[0.988]","PRPF19[0.999]","SNX9[0.977]","PSMD4[0.999]","PDE12[0.999]","EIF2S1[0.999]","BUB3[0.999]","MDH2[0.992]","PGD[0.159]","CFAP47[0.021]","EXOSC8[0.996]","DIAPH1[0.998]","PSMD6[0.999]","KHSRP[0.987]","MTHFD1[0.554]","PFKL[0.880]","CSDE1[0.911]","CLIC1[0.994]","MOV10[0.996]","SETD1A[0.997]","NSF[0.991]","MCM2[0.999]","MDH1[0.896]","ADRM1[0.999]","MKRN2[0.053]","SEC13[0.999]","UBR2[0.999]","CLIP1[0.999]","PSMC6[0.999]","RPL29[0.998]","TRA2B[0.998]","AARS[0.712]","IMPDH2[0.542]","PGK1[0.171]","TRIM25[0.998]","LMNB1[0.999]","FLNC[0.929]","WWOX[0.999]","PALB2[NA]","MORF4L2[NA]","MORF4L1[NA]","BRCA2[NA]","BACH1[NA]","MLH1[NA]","RBBP8[NA]","BRCA2[NA]","BARD1[NA]","SMC1A[NA]","RAD50[NA]","MSH6[NA]","TAF9[0.999]","DBP[0.984]","POLR2B[0.999]","CDS1[0.760]","CTBP2[0.996]","TADA3[0.999]","KAT2A[0.999]","BCORL1[0.963]","SUPT3H[0.993]","TAF10[0.999]"],"ensemblGene":"ENSG00000012048","chr":"17","uniprotAcc":"P38398","uniprotId":"BRCA1_HUMAN","entrezGeneId":"672","ucscId":"uc002ict.4","geneFullName":"BRCA1, 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(the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; reproductive system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; neoplasm; pigmentation phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; immune system phenotype; renal/urinary system phenotype; skeleton phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); limbs/digits/tail phenotype; digestive/alimentary phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype; cellular phenotype; homeostasis/metabolism phenotype; muscle phenotype; ","zfinZebrafishGene":".","zfinZebrafishStructure":".","zfinZebrafishPhenotypeQuality":".","zfinZebrafishPhenotypeTag":"."},"gnomadConstraints":{"ensemblGeneId":"ENSG00000012048","entrezId":"672","geneSymbol":"BRCA1","expLof":174.67,"expMis":2249.6,"expSyn":792.24,"misZ":2.3217,"obsLof":134,"obsMis":1948,"obsSyn":655,"oeLof":0.76716,"oeLofLower":0.666,"oeLofUpper":0.885,"oeMis":0.86592,"oeMisLower":0.833,"oeMisUpper":0.899,"oeSyn":0.82677,"oeSynLower":0.775,"oeSynUpper":0.882,"pli":1.4282e-34,"synZ":2.6589},"hgnc":{"hgncId":"HGNC:1100","symbol":"BRCA1","name":"BRCA1 DNA repair associated","status":1,"aliasSymbol":["RNF53","BRCC1","PPP1R53","FANCS"],"aliasName":["BRCA1/BRCA2-containing complex, subunit 1","protein phosphatase 1, regulatory subunit 53","Fanconi anemia, complementation group S"],"prevSymbol":[],"prevName":["breast cancer 1, early onset","breast cancer 1"],"geneGroup":["Ring finger proteins","FA complementation groups","Protein phosphatase 1 regulatory subunits","BRCA1 A complex","BRCA1 B complex","BRCA1 C complex"],"geneGroupId":[58,548,694,1328,1335,1336],"ena":["U14680"],"refseqAccession":["NM_007294"],"ccdsId":["CCDS11456","CCDS11455","CCDS11453","CCDS11459","CCDS11454"],"uniprotIds":["P38398"],"pubmedId":[1676470,25472942],"mgdId":["MGI:104537"],"rgdId":["RGD:2218"],"lsdb":[{"name":"http://research.nhgri.nih.gov/bic/","url":"Breast Cancer"},{"name":"http://www2.rockefeller.edu/fanconi","url":"Fanconi Anaemia Mutation Database"},{"name":"http://genomed.org/LOVD/BC/home.php?select_db=BRCA1","url":"BRCA1 database at LOVD-China"},{"name":"https://databases.lovd.nl/shared/genes/BRCA1","url":"Global Variome shared LOVD"},{"name":"http://proteomics.bio21.unimelb.edu.au/lovd/genes/BRCA1","url":"LOVD - Leiden Open Variation Database"},{"name":"http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_292.xml","url":"LRG_292"}],"omimId":["113705"],"enzymeId":[],"maneSelect":["ENST00000357654.9","NM_007294.4"],"locusGroup":"protein-coding gene","locusType":"gene with protein product","location":"17q21.31","locationSortable":"17q21.31","dateApprovedReserved":"1991-02-20","dateNameChanged":"2019-01-22","dateModified":"2023-03-15","entrezId":"672","ensemblGeneId":"ENSG00000012048","vegaId":"OTTHUMG00000157426","ucscId":"uc002ict.4","cosmic":"BRCA1","orphanet":119068,"agr":"HGNC:1100"},"ncbi":{"geneId":"672","rifEntries":[{"text":"Causality and functional relevance of BRCA1 and BRCA2 pathogenic variants in non-high-grade serous ovarian carcinomas.","pmids":[37850614]},{"text":"Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.","pmids":[37930190]},{"text":"Association of BRCA mutation status with the efficacy of poly (ADP-ribose) polymerase inhibitors in cancer: A systematic review and meta-analysis.","pmids":[37541880]},{"text":"Prenatal BRCA1 epimutations contribute significantly to triple-negative breast cancer development.","pmids":[38053165]}],"summary":"This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020]"},"omim":{"hgncId":"HGNC:1100","omimDiseases":[{"omimId":"OMIM:114480","label":"Breast cancer"},{"omimId":"OMIM:604370","label":"Breast-Ovarian cancer, familial, susceptibility to, 1"},{"omimId":"OMIM:617883","label":"Fanconi anemia, complementation group S"}]},"rcnv":{"hgncId":"HGNC:1100","pHaplo":0.282374740223128,"pTriplo":0.620028553615501},"shet":{"hgncId":"HGNC:1100","sHet":0.005},"gtex":{"hgncId":"HGNC:1100","ensemblGeneId":"ENSG00000012048","ensemblGeneVersion":"20","records":[{"tissue":1,"tissueDetailed":1,"tpms":[0.2209,1.101,1.482,1.9555,4.207]},{"tissue":1,"tissueDetailed":2,"tpms":[0.1854,0.809,1.122,1.497,3.968]},{"tissue":2,"tissueDetailed":3,"tpms":[0.03997,0.70615,0.95975,1.21925,2.801]},{"tissue":3,"tissueDetailed":7,"tpms":[0.8304,1.474,1.786,2.114,2.319]},{"tissue":4,"tissueDetailed":23,"tpms":[4.381,14.705,19.77,24.485,36.84]},{"tissue":4,"tissueDetailed":56,"tpms":[0.03328,0.4607,0.8826,1.426,5.061]},{"tissue":5,"tissueDetailed":4,"tpms":[0.2705,0.911375,1.147,1.461,2.974]},{"tissue":5,"tissueDetailed":5,"tpms":[0.3367,0.9703,1.2525,1.5865,3.346]},{"tissue":5,"tissueDetailed":6,"tpms":[0.1409,0.83585,1.107,1.381,4.015]},{"tissue":7,"tissueDetailed":8,"tpms":[0.1942,0.7064,0.95425,1.20975,3.423]},{"tissue":7,"tissueDetailed":9,"tpms":[0.1907,0.48295,0.6051,0.7926,3.936]},{"tissue":7,"tissueDetailed":10,"tpms":[0.1931,0.84465,1.099,1.409,3.494]},{"tissue":7,"tissueDetailed":11,"tpms":[0.1435,0.5071,0.6817,0.8526,1.795]},{"tissue":7,"tissueDetailed":12,"tpms":[0.1807,0.5977,0.7439,0.894,1.75]},{"tissue":7,"tissueDetailed":13,"tpms":[0.3276,0.69255,0.8449,1.11,4.767]},{"tissue":7,"tissueDetailed":14,"tpms":[0.2463,0.6357,0.8121,1.022,3.672]},{"tissue":7,"tissueDetailed":15,"tpms":[0.2167,0.6819,0.9926,1.528,5.017]},{"tissue":7,"tissueDetailed":16,"tpms":[0.2405,0.771325,1.053,1.396,5.09]},{"tissue":7,"tissueDetailed":17,"tpms":[0.08648,0.59885,0.8826,1.18775,6.496]},{"tissue":7,"tissueDetailed":18,"tpms":[0.2729,0.8034,1.1,1.376,3.549]},{"tissue":7,"tissueDetailed":19,"tpms":[0.3637,1.737,2.371,3.222,7.683]},{"tissue":7,"tissueDetailed":20,"tpms":[0.4543,1.012,1.407,2.1155,4.871]},{"tissue":8,"tissueDetailed":21,"tpms":[0.1048,0.9573,1.316,1.7635,5.007]},{"tissue":9,"tissueDetailed":25,"tpms":[1.137,1.46,2.256,2.84,5.502]},{"tissue":9,"tissueDetailed":26,"tpms":[1.188,1.502,1.8565,2.27175,3.456]},{"tissue":10,"tissueDetailed":27,"tpms":[0.4501,1.69,2.112,2.806,5.456]},{"tissue":10,"tissueDetailed":28,"tpms":[0.4739,1.45325,1.9725,2.65275,6.846]},{"tissue":11,"tissueDetailed":29,"tpms":[0.2521,1.3035,1.716,2.1715,4.408]},{"tissue":11,"tissueDetailed":30,"tpms":[0.3604,1.847,2.624,3.716,13.31]},{"tissue":11,"tissueDetailed":31,"tpms":[0.2562,1.355,1.759,2.2125,4.45]},{"tissue":12,"tissueDetailed":32,"tpms":[1.196,1.417,2.042,2.838,3.715]},{"tissue":13,"tissueDetailed":33,"tpms":[0.07571,0.7861,1.163,1.521,3.17]},{"tissue":13,"tissueDetailed":34,"tpms":[0.0263,0.4611,0.87665,1.27675,4.875]},{"tissue":14,"tissueDetailed":35,"tpms":[0.07574,0.2879,0.4409,0.7182,4.438]},{"tissue":14,"tissueDetailed":36,"tpms":[0.3846,0.389625,0.5875,0.860525,1.091]},{"tissue":15,"tissueDetailed":37,"tpms":[0.06851,0.5388,0.93435,1.6585,7.523]},{"tissue":16,"tissueDetailed":38,"tpms":[0.2091,1.165,1.741,2.486,9.323]},{"tissue":17,"tissueDetailed":40,"tpms":[0.06435,0.6387,0.8947,1.1845,4.109]},{"tissue":18,"tissueDetailed":41,"tpms":[0.554,2.0265,2.549,3.1605,5.873]},{"tissue":19,"tissueDetailed":42,"tpms":[0.4069,1.232,1.538,1.95775,8.516]},{"tissue":20,"tissueDetailed":43,"tpms":[0.01594,0.3794,0.50675,0.6811,2.068]},{"tissue":21,"tissueDetailed":44,"tpms":[0.2558,1.4255,1.972,2.9315,9.565]},{"tissue":22,"tissueDetailed":45,"tpms":[0.208,1.054,1.381,1.716,5.602]},{"tissue":23,"tissueDetailed":39,"tpms":[0.2541,1.0235,1.2805,1.6725,5.465]},{"tissue":24,"tissueDetailed":22,"tpms":[1.211,4.502,6.958,18.0375,34.6]},{"tissue":24,"tissueDetailed":47,"tpms":[0.2108,1.466,1.9735,2.5315,6.01]},{"tissue":24,"tissueDetailed":48,"tpms":[0.1891,1.306,1.761,2.354,5.223]},{"tissue":25,"tissueDetailed":49,"tpms":[0.4102,1.502,2.153,2.8265,8.739]},{"tissue":26,"tissueDetailed":50,"tpms":[0.941,1.849,2.29,3.088,7.364]},{"tissue":27,"tissueDetailed":51,"tpms":[0.2336,0.75795,1.155,1.8485,7.28]},{"tissue":28,"tissueDetailed":52,"tpms":[3.074,8.973,10.92,13.13,21.45]},{"tissue":29,"tissueDetailed":53,"tpms":[0.4751,2.301,4.408,7.953,27.18]},{"tissue":30,"tissueDetailed":54,"tpms":[0.8724,1.78075,2.274,2.80175,4.493]},{"tissue":31,"tissueDetailed":55,"tpms":[0.6156,1.764,2.2715,2.87975,5.605]}]},"domino":{"geneSymbol":"BRCA1","score":0.98257756},"conditions":{"hgncId":"HGNC:1100","diseaseAssociations":[{"hgncId":"HGNC:1100","labeledDisorders":[{"termId":"OMIM:617883","title":"Fanconi anemia, complementation group S"},{"termId":"ORPHA:84","title":"Fanconi anemia"}],"sources":[1,2,3],"confidence":1,"diseaseName":"Fanconi anemia","diseaseDefinition":"A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors."},{"hgncId":"HGNC:1100","labeledDisorders":[{"termId":"OMIM:114480","title":"Breast cancer"},{"termId":"OMIM:604370","title":"Breast-Ovarian cancer, familial, susceptibility to, 1"},{"termId":"ORPHA:145","title":"Hereditary breast and/or ovarian cancer syndrome"},{"termId":"ORPHA:227535","title":"Hereditary breast cancer"}],"sources":[1,2,3],"confidence":1,"diseaseName":"Hereditary breast and/or ovarian cancer syndrome","diseaseDefinition":"A genetic condition characterized by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbour PVs in HBOC genes do not have a suggestive family history."},{"hgncId":"HGNC:1100","labeledDisorders":[{"termId":"ORPHA:1331","title":"Familial prostate cancer"}],"sources":[2],"confidence":1,"diseaseName":"Familial prostate cancer","diseaseDefinition":"Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents."},{"hgncId":"HGNC:1100","labeledDisorders":[{"termId":"OMIM:614320","title":"Pancreatic Cancer, Susceptibility To, 4"},{"termId":"OMIM:614320","title":"pancreatic cancer, susceptibility to, 4"},{"termId":"ORPHA:1333","title":"Familial pancreatic carcinoma"}],"sources":[1,2,3],"confidence":1,"diseaseName":"Familial pancreatic carcinoma","diseaseDefinition":"Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives."},{"hgncId":"HGNC:1100","labeledDisorders":[{"termId":"ORPHA:168829","title":"Primary peritoneal carcinoma"}],"sources":[2],"confidence":1,"diseaseName":"Primary peritoneal carcinoma","diseaseDefinition":"Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma (see this term)."},{"hgncId":"HGNC:1100","labeledDisorders":[{"termId":"ORPHA:70567","title":"Cholangiocarcinoma"}],"sources":[2],"confidence":1,"diseaseName":"Cholangiocarcinoma","diseaseDefinition":"Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC, see this term) originating in the epithelium of the biliary tree, either intra or extra hepatic."},{"hgncId":"HGNC:1100","labeledDisorders":[{"termId":"OMIM:616579","title":"Intellectual developmental disorder, autosomal dominant 40"},{"termId":"ORPHA:178469","title":"Autosomal dominant non-syndromic intellectual disability"}],"sources":[3],"confidence":1,"diseaseName":"Autosomal dominant non-syndromic intellectual disability"}],"panelappAssociations":[{"hgncId":"HGNC:1100","confidenceLevel":2,"entityType":1,"phenotypes":["Prostate cancer, MONDO:0008315"],"modeOfInheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","panel":{"id":318,"name":"Familial prostate 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unknown","panel":{"id":929,"name":"Additional findings health related - adult specific","version":"1.2"}},{"hgncId":"HGNC:1100","confidenceLevel":1,"entityType":1,"phenotypes":["{Breast-ovarian cancer, familial, 1}, OMIM:604370","Adult only"],"modeOfInheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","panel":{"id":931,"name":"Additional findings health related - CNV analysis adult specific","version":"1.2"}},{"hgncId":"HGNC:1100","confidenceLevel":1,"entityType":1,"phenotypes":[],"modeOfInheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","panel":{"id":1223,"name":"Inherited prostate cancer","version":"1.4"}},{"hgncId":"HGNC:1100","confidenceLevel":3,"entityType":1,"phenotypes":["Non-medullary thyroid cancer"],"modeOfInheritance":"Unknown","panel":{"id":171,"name":"Inherited non-medullary thyroid cancer","version":"1.7"}},{"hgncId":"HGNC:1100","confidenceLevel":3,"entityType":1,"phenotypes":["Gastrointestinal and Colorectal Cancer"],"modeOfInheritance":"","panel":{"id":254,"name":"GI tract tumours","version":"1.22"}},{"hgncId":"HGNC:1100","confidenceLevel":3,"entityType":1,"phenotypes":["INTELLECTUAL DISABILITY"],"modeOfInheritance":"BIALLELIC, autosomal or pseudoautosomal","panel":{"id":478,"name":"Fetal anomalies","version":"3.124"}},{"hgncId":"HGNC:1100","confidenceLevel":3,"entityType":1,"phenotypes":["{Breast-ovarian cancer, familial, 1} 604370 autosomal dominant","{Pancreatic cancer, susceptibility to, 4} 614320 autosomal dominant","intellectual disability recessive"],"modeOfInheritance":"BIALLELIC, autosomal or pseudoautosomal","panel":{"id":285,"name":"Intellectual disability - microarray and sequencing","version":"5.405"}},{"hgncId":"HGNC:1100","confidenceLevel":3,"entityType":1,"phenotypes":["Fanconi anemia, complementation group S, OMIM:617883","Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage","Bone marrow failure"],"modeOfInheritance":"BIALLELIC, autosomal or pseudoautosomal","panel":{"id":398,"name":"Primary immunodeficiency or monogenic inflammatory bowel disease","version":"4.162"}}]}}]}"`; -exports[`AnnonarsClient.fetchGenes() > fails to fetch genes with wrong query 1`] = `"{"genes":[{"score":0.75,"data":{"hgncId":"HGNC:3333","symbol":"EMP1","name":"epithelial membrane protein 1","aliasSymbol":["TMP","CL-20"],"aliasName":[],"ensemblGeneId":"ENSG00000134531","ncbiGeneId":"2012"}},{"score":0.75,"data":{"hgncId":"HGNC:3334","symbol":"EMP2","name":"epithelial membrane protein 2","aliasSymbol":["XMP"],"aliasName":[],"ensemblGeneId":"ENSG00000213853","ncbiGeneId":"2013"}},{"score":0.75,"data":{"hgncId":"HGNC:3335","symbol":"EMP3","name":"epithelial membrane protein 3","aliasSymbol":["YMP"],"aliasName":[],"ensemblGeneId":"ENSG00000142227","ncbiGeneId":"2014"}},{"score":0.6,"data":{"hgncId":"HGNC:29001","symbol":"NEMP1","name":"nuclear envelope integral membrane protein 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1","aliasSymbol":["TMP","CL-20"],"aliasName":[],"ensemblGeneId":"ENSG00000134531","ncbiGeneId":"2012"}},{"score":0.75,"data":{"hgncId":"HGNC:3334","symbol":"EMP2","name":"epithelial membrane protein 2","aliasSymbol":["XMP"],"aliasName":[],"ensemblGeneId":"ENSG00000213853","ncbiGeneId":"2013"}},{"score":0.75,"data":{"hgncId":"HGNC:3335","symbol":"EMP3","name":"epithelial membrane protein 3","aliasSymbol":["YMP"],"aliasName":[],"ensemblGeneId":"ENSG00000142227","ncbiGeneId":"2014"}},{"score":0.6,"data":{"hgncId":"HGNC:29001","symbol":"NEMP1","name":"nuclear envelope integral membrane protein 1","aliasSymbol":["KIAA0286"],"aliasName":[],"ensemblGeneId":"ENSG00000166881","ncbiGeneId":"23306"}},{"score":0.6,"data":{"hgncId":"HGNC:32553","symbol":"CEMP1","name":"cementum protein 1","aliasSymbol":["CP-23"],"aliasName":["cementum protein-23"],"ensemblGeneId":"ENSG00000205923","ncbiGeneId":"752014"}},{"score":0.6,"data":{"hgncId":"HGNC:33700","symbol":"NEMP2","name":"nuclear envelope integral 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1","aliasSymbol":[],"aliasName":[],"ensemblGeneId":"ENSG00000231655","ncbiGeneId":"391359"}},{"score":0.375,"data":{"hgncId":"HGNC:55713","symbol":"NEMP2-DT","name":"NEMP2 divergent transcript","aliasSymbol":[],"aliasName":[],"ensemblGeneId":"ENSG00000233654","ncbiGeneId":"105376748"}}]}"`; -exports[`AnnonarsClient.fetchVariantInfo() > do removes chr prefix from chromosome if genome release is grch38 1`] = 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Hereditary cancer-predisposing syndrome","accession":{"accession":"RCV000131831","version":20},"classifications":{"germlineClassification":{"reviewStatus":4,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1682985600","nanos":0},"submissionCount":3}}}},{"title":"NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) AND Familial cancer of breast","accession":{"accession":"RCV000457403","version":9},"classifications":{"germlineClassification":{"reviewStatus":3,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1487808000","nanos":0},"submissionCount":1}}}},{"title":"NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) AND Breast neoplasm","accession":{"accession":"RCV000413608","version":9},"classifications":{"germlineClassification":{"reviewStatus":3,"description":{"value":"Pathogenic","submissionCount":1}}}},{"title":"NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) AND Breast carcinoma","accession":{"accession":"RCV001579293","version":9},"classifications":{"germlineClassification":{"reviewStatus":2,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1629504000","nanos":0},"submissionCount":1}}}},{"title":"NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) AND Breast and/or ovarian cancer","accession":{"accession":"RCV003149709","version":9},"classifications":{"germlineClassification":{"reviewStatus":3,"description":{"value":"Pathogenic","dateLastEvaluated":{"seconds":"1651449600","nanos":0},"submissionCount":1}}}}],"name":"NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)","variationType":3,"hgncIds":["HGNC:1100"],"accession":{"accession":"VCV000055407","version":47},"classifications":{"germlineClassification":{"reviewStatus":6,"xrefs":[],"citations":[],"comments":[],"historyRecords":[],"conditions":[],"description":"Pathogenic","dateLastEvaluated":{"seconds":"1439164800","nanos":0},"dateCreated":{"seconds":"1396310400","nanos":0},"mostRecentSubmission":{"seconds":"1714521600","nanos":0},"numberOfSubmitters":33,"numberOfSubmissions":34}},"sequenceLocation":{"assembly":"GRCh37","chr":17,"accession":"NC_000017.10","start":41215920,"stop":41215920,"displayStart":41215920,"displayStop":41215920,"variantLength":1,"positionVcf":41215920,"referenceAlleleVcf":"G","alternateAlleleVcf":"T"}}]}}}"`; diff --git a/src/components/SeqvarClinvarCard/SeqvarClinvarCard.vue b/src/components/SeqvarClinvarCard/SeqvarClinvarCard.vue index 701c37d..37a8ce1 100644 --- a/src/components/SeqvarClinvarCard/SeqvarClinvarCard.vue +++ b/src/components/SeqvarClinvarCard/SeqvarClinvarCard.vue @@ -1,8 +1,7 @@ @@ -66,12 +54,9 @@ const expand = ref(false) - + { const starsOncogenicity = acs.oncogenicityClassification?.reviewStatus ? AGGREGATE_ONCOGENICITY_REVIEW_STATUS_STARS[acs.oncogenicityClassification?.reviewStatus] : 0 - const starsClinicalImpacts = acs.somaticClinicalImpacts.map( - (asci: AggregatedSomaticClinicalImpact): number => { - return AGGREGATE_SOMATIC_CLINICAL_IMPACT_REVIEW_STATUS_STARS[asci.reviewStatus] - } - ) - const starsClinicalImpact = Math.max(...starsClinicalImpacts) + const starsClinicalImpact = acs.somaticClinicalImpact?.reviewStatus + ? AGGREGATE_SOMATIC_CLINICAL_IMPACT_REVIEW_STATUS_STARS[acs.somaticClinicalImpact?.reviewStatus] + : 0 return Math.max(starsGermline, starsOncogenicity, starsClinicalImpact) } @@ -139,10 +133,7 @@ const expanded = ref([]) {{ record!.classifications!.germlineClassification!.description }} -
+
([]) - {{ somaticClinicalImpact.description }} + {{ record!.classifications?.somaticClinicalImpact.description }}
@@ -215,10 +206,7 @@ const expanded = ref([])
-
+
([]) @@ -241,7 +229,7 @@ const expanded = ref([]) v-if=" i <= AGGREGATE_SOMATIC_CLINICAL_IMPACT_REVIEW_STATUS_STARS[ - somaticClinicalImpact.reviewStatus + record!.classifications?.somaticClinicalImpact.reviewStatus ] " > diff --git a/src/pbs/annonars/clinvar_data/clinvar_public.ts b/src/pbs/annonars/clinvar_data/clinvar_public.ts index 3bc2024..2656bed 100644 --- a/src/pbs/annonars/clinvar_data/clinvar_public.ts +++ b/src/pbs/annonars/clinvar_data/clinvar_public.ts @@ -566,48 +566,33 @@ export interface Trait_TraitRelationship { // nested elements /** - * names - * - * NB: in XSD this is explictely given as unbounded but XML always has - * one element + * Name(s) of the trait. * * @generated from protobuf field: repeated annonars.clinvar_data.clinvar_public.GenericSetElement names = 1; */ names: GenericSetElement[] - /** - * symbols (NB: never occur in the XML) - * - * @generated from protobuf field: repeated annonars.clinvar_data.clinvar_public.GenericSetElement symbols = 2; - */ - symbols: GenericSetElement[] - /** - * attributes (NB: never occur in the XML) - * - * @generated from protobuf field: repeated annonars.clinvar_data.clinvar_public.AttributeSetElement attributes = 3; - */ - attributes: AttributeSetElement[] /** * Citation list. * - * @generated from protobuf field: repeated annonars.clinvar_data.clinvar_public.Citation citations = 4; + * @generated from protobuf field: repeated annonars.clinvar_data.clinvar_public.Citation citations = 2; */ citations: Citation[] /** * Xref list. * - * @generated from protobuf field: repeated annonars.clinvar_data.clinvar_public.Xref xrefs = 5; + * @generated from protobuf field: repeated annonars.clinvar_data.clinvar_public.Xref xrefs = 3; */ xrefs: Xref[] /** * Comment list. * - * @generated from protobuf field: repeated annonars.clinvar_data.clinvar_public.Comment comments = 6; + * @generated from protobuf field: repeated annonars.clinvar_data.clinvar_public.Comment comments = 4; */ comments: Comment[] /** * Sources * - * @generated from protobuf field: repeated string sources = 7; + * @generated from protobuf field: repeated string sources = 5; */ sources: string[] // attributes @@ -615,7 +600,7 @@ export interface Trait_TraitRelationship { /** * Trait type. * - * @generated from protobuf field: annonars.clinvar_data.clinvar_public.Trait.TraitRelationship.Type type = 8; + * @generated from protobuf field: annonars.clinvar_data.clinvar_public.Trait.TraitRelationship.Type type = 6; */ type: Trait_TraitRelationship_Type } @@ -1159,9 +1144,9 @@ export interface AggregateClassificationSet { /** * The aggregate somatic clinical impact. * - * @generated from protobuf field: repeated annonars.clinvar_data.clinvar_public.AggregatedSomaticClinicalImpact somatic_clinical_impacts = 2; + * @generated from protobuf field: optional annonars.clinvar_data.clinvar_public.AggregatedSomaticClinicalImpact somatic_clinical_impact = 2; */ - somaticClinicalImpacts: AggregatedSomaticClinicalImpact[] + somaticClinicalImpact?: AggregatedSomaticClinicalImpact /** * The aggregate oncogenicity classification. * @@ -1376,9 +1361,9 @@ export interface ClassificationScv { * Information on the clinical impact; mutually exlusive with `germline_classification` * and `oncogenicity_classification`. * - * @generated from protobuf field: optional annonars.clinvar_data.clinvar_public.ClassificationScv.SomaticClinicalImpact somatic_clinical_impacts = 3; + * @generated from protobuf field: optional annonars.clinvar_data.clinvar_public.ClassificationScv.SomaticClinicalImpact somatic_clinical_impact = 3; */ - somaticClinicalImpacts?: ClassificationScv_SomaticClinicalImpact + somaticClinicalImpact?: ClassificationScv_SomaticClinicalImpact /** * The oncogenicity classification; mutually exlusive with `germline_classification` * and `oncogenicity_classification`. @@ -2850,9 +2835,9 @@ export interface AlleleScv { /** * Name provided by the submitter. * - * @generated from protobuf field: repeated annonars.clinvar_data.clinvar_public.OtherName names = 2; + * @generated from protobuf field: annonars.clinvar_data.clinvar_public.OtherName name = 2; */ - names: OtherName[] + name?: OtherName /** * Variant type. * @@ -3050,9 +3035,9 @@ export interface HaplotypeScv { /** * Classification of the variant. * - * @generated from protobuf field: optional annonars.clinvar_data.clinvar_public.AggregateClassificationSet classification = 4; + * @generated from protobuf field: optional annonars.clinvar_data.clinvar_public.AggregateClassificationSet classifications = 4; */ - classification?: AggregateClassificationSet + classifications?: AggregateClassificationSet /** * Functional consequences of the variant. * @@ -3608,11 +3593,11 @@ export interface ClinicalAssertion { */ replaceds: ClinicalAssertionRecordHistory[] /** - * SCV classifications. + * SCV classification. * - * @generated from protobuf field: repeated annonars.clinvar_data.clinvar_public.ClassificationScv classifications = 7; + * @generated from protobuf field: annonars.clinvar_data.clinvar_public.ClassificationScv classifications = 7; */ - classifications: ClassificationScv[] + classifications?: ClassificationScv /** * The assertion. * @@ -7839,42 +7824,28 @@ class Trait_TraitRelationship$Type extends MessageType }, { no: 2, - name: 'symbols', - kind: 'message', - repeat: 1 /*RepeatType.PACKED*/, - T: () => GenericSetElement - }, - { - no: 3, - name: 'attributes', - kind: 'message', - repeat: 1 /*RepeatType.PACKED*/, - T: () => AttributeSetElement - }, - { - no: 4, name: 'citations', kind: 'message', repeat: 1 /*RepeatType.PACKED*/, T: () => Citation }, - { no: 5, name: 'xrefs', kind: 'message', repeat: 1 /*RepeatType.PACKED*/, T: () => Xref }, + { no: 3, name: 'xrefs', kind: 'message', repeat: 1 /*RepeatType.PACKED*/, T: () => Xref }, { - no: 6, + no: 4, name: 'comments', kind: 'message', repeat: 1 /*RepeatType.PACKED*/, T: () => Comment }, { - no: 7, + no: 5, name: 'sources', kind: 'scalar', repeat: 2 /*RepeatType.UNPACKED*/, T: 9 /*ScalarType.STRING*/ }, { - no: 8, + no: 6, name: 'type', kind: 'enum', T: () => [ @@ -7887,8 +7858,6 @@ class Trait_TraitRelationship$Type extends MessageType create(value?: PartialMessage): Trait_TraitRelationship { const message = globalThis.Object.create(this.messagePrototype!) message.names = [] - message.symbols = [] - message.attributes = [] message.citations = [] message.xrefs = [] message.comments = [] @@ -7911,29 +7880,19 @@ class Trait_TraitRelationship$Type extends MessageType case /* repeated annonars.clinvar_data.clinvar_public.GenericSetElement names */ 1: message.names.push(GenericSetElement.internalBinaryRead(reader, reader.uint32(), options)) break - case /* repeated annonars.clinvar_data.clinvar_public.GenericSetElement symbols */ 2: - message.symbols.push( - GenericSetElement.internalBinaryRead(reader, reader.uint32(), options) - ) - break - case /* repeated annonars.clinvar_data.clinvar_public.AttributeSetElement attributes */ 3: - message.attributes.push( - AttributeSetElement.internalBinaryRead(reader, reader.uint32(), options) - ) - break - case /* repeated annonars.clinvar_data.clinvar_public.Citation citations */ 4: + case /* repeated annonars.clinvar_data.clinvar_public.Citation citations */ 2: message.citations.push(Citation.internalBinaryRead(reader, reader.uint32(), options)) break - case /* repeated annonars.clinvar_data.clinvar_public.Xref xrefs */ 5: + case /* repeated annonars.clinvar_data.clinvar_public.Xref xrefs */ 3: message.xrefs.push(Xref.internalBinaryRead(reader, reader.uint32(), options)) break - case /* repeated annonars.clinvar_data.clinvar_public.Comment comments */ 6: + case /* repeated annonars.clinvar_data.clinvar_public.Comment comments */ 4: message.comments.push(Comment.internalBinaryRead(reader, reader.uint32(), options)) break - case /* repeated string sources */ 7: + case /* repeated string sources */ 5: message.sources.push(reader.string()) break - case /* annonars.clinvar_data.clinvar_public.Trait.TraitRelationship.Type type */ 8: + case /* annonars.clinvar_data.clinvar_public.Trait.TraitRelationship.Type type */ 6: message.type = reader.int32() break default: @@ -7967,46 +7926,32 @@ class Trait_TraitRelationship$Type extends MessageType writer.tag(1, WireType.LengthDelimited).fork(), options ).join() - /* repeated annonars.clinvar_data.clinvar_public.GenericSetElement symbols = 2; */ - for (let i = 0; i < message.symbols.length; i++) - GenericSetElement.internalBinaryWrite( - message.symbols[i], - writer.tag(2, WireType.LengthDelimited).fork(), - options - ).join() - /* repeated annonars.clinvar_data.clinvar_public.AttributeSetElement attributes = 3; */ - for (let i = 0; i < message.attributes.length; i++) - AttributeSetElement.internalBinaryWrite( - message.attributes[i], - writer.tag(3, WireType.LengthDelimited).fork(), - options - ).join() - /* repeated annonars.clinvar_data.clinvar_public.Citation citations = 4; */ + /* repeated annonars.clinvar_data.clinvar_public.Citation citations = 2; */ for (let i = 0; i < message.citations.length; i++) Citation.internalBinaryWrite( message.citations[i], - writer.tag(4, WireType.LengthDelimited).fork(), + writer.tag(2, WireType.LengthDelimited).fork(), options ).join() - /* repeated annonars.clinvar_data.clinvar_public.Xref xrefs = 5; */ + /* repeated annonars.clinvar_data.clinvar_public.Xref xrefs = 3; */ for (let i = 0; i < message.xrefs.length; i++) Xref.internalBinaryWrite( message.xrefs[i], - writer.tag(5, WireType.LengthDelimited).fork(), + writer.tag(3, WireType.LengthDelimited).fork(), options ).join() - /* repeated annonars.clinvar_data.clinvar_public.Comment comments = 6; */ + /* repeated annonars.clinvar_data.clinvar_public.Comment comments = 4; */ for (let i = 0; i < message.comments.length; i++) Comment.internalBinaryWrite( message.comments[i], - writer.tag(6, WireType.LengthDelimited).fork(), + writer.tag(4, WireType.LengthDelimited).fork(), options ).join() - /* repeated string sources = 7; */ + /* repeated string sources = 5; */ for (let i = 0; i < message.sources.length; i++) - writer.tag(7, WireType.LengthDelimited).string(message.sources[i]) - /* annonars.clinvar_data.clinvar_public.Trait.TraitRelationship.Type type = 8; */ - if (message.type !== 0) writer.tag(8, WireType.Varint).int32(message.type) + writer.tag(5, WireType.LengthDelimited).string(message.sources[i]) + /* annonars.clinvar_data.clinvar_public.Trait.TraitRelationship.Type type = 6; */ + if (message.type !== 0) writer.tag(6, WireType.Varint).int32(message.type) const u = options.writeUnknownFields if (u !== false) (u == true ? UnknownFieldHandler.onWrite : u)(this.typeName, message, writer) return writer @@ -9173,9 +9118,8 @@ class AggregateClassificationSet$Type extends MessageType AggregatedSomaticClinicalImpact }, { @@ -9188,7 +9132,6 @@ class AggregateClassificationSet$Type extends MessageType): AggregateClassificationSet { const message = globalThis.Object.create(this.messagePrototype!) - message.somaticClinicalImpacts = [] if (value !== undefined) reflectionMergePartial(this, message, value) return message @@ -9212,9 +9155,12 @@ class AggregateClassificationSet$Type extends MessageType { }, { no: 3, - name: 'somatic_clinical_impacts', + name: 'somatic_clinical_impact', kind: 'message', T: () => ClassificationScv_SomaticClinicalImpact }, @@ -9743,13 +9689,13 @@ class ClassificationScv$Type extends MessageType { case /* optional string germline_classification */ 2: message.germlineClassification = reader.string() break - case /* optional annonars.clinvar_data.clinvar_public.ClassificationScv.SomaticClinicalImpact somatic_clinical_impacts */ 3: - message.somaticClinicalImpacts = + case /* optional annonars.clinvar_data.clinvar_public.ClassificationScv.SomaticClinicalImpact somatic_clinical_impact */ 3: + message.somaticClinicalImpact = ClassificationScv_SomaticClinicalImpact.internalBinaryRead( reader, reader.uint32(), options, - message.somaticClinicalImpacts + message.somaticClinicalImpact ) break case /* optional string oncogenicity_classification */ 4: @@ -9813,10 +9759,10 @@ class ClassificationScv$Type extends MessageType { /* optional string germline_classification = 2; */ if (message.germlineClassification !== undefined) writer.tag(2, WireType.LengthDelimited).string(message.germlineClassification) - /* optional annonars.clinvar_data.clinvar_public.ClassificationScv.SomaticClinicalImpact somatic_clinical_impacts = 3; */ - if (message.somaticClinicalImpacts) + /* optional annonars.clinvar_data.clinvar_public.ClassificationScv.SomaticClinicalImpact somatic_clinical_impact = 3; */ + if (message.somaticClinicalImpact) ClassificationScv_SomaticClinicalImpact.internalBinaryWrite( - message.somaticClinicalImpacts, + message.somaticClinicalImpact, writer.tag(3, WireType.LengthDelimited).fork(), options ).join() @@ -12453,13 +12399,7 @@ class AlleleScv$Type extends MessageType { repeat: 1 /*RepeatType.PACKED*/, T: () => AlleleScv_Gene }, - { - no: 2, - name: 'names', - kind: 'message', - repeat: 1 /*RepeatType.PACKED*/, - T: () => OtherName - }, + { no: 2, name: 'name', kind: 'message', T: () => OtherName }, { no: 3, name: 'variant_type', kind: 'scalar', opt: true, T: 9 /*ScalarType.STRING*/ }, { no: 4, name: 'location', kind: 'message', T: () => Location }, { @@ -12518,7 +12458,6 @@ class AlleleScv$Type extends MessageType { create(value?: PartialMessage): AlleleScv { const message = globalThis.Object.create(this.messagePrototype!) message.genes = [] - message.names = [] message.otherNames = [] message.proteinChanges = [] message.xrefs = [] @@ -12544,8 +12483,13 @@ class AlleleScv$Type extends MessageType { case /* repeated annonars.clinvar_data.clinvar_public.AlleleScv.Gene genes */ 1: message.genes.push(AlleleScv_Gene.internalBinaryRead(reader, reader.uint32(), options)) break - case /* repeated annonars.clinvar_data.clinvar_public.OtherName names */ 2: - message.names.push(OtherName.internalBinaryRead(reader, reader.uint32(), options)) + case /* annonars.clinvar_data.clinvar_public.OtherName name */ 2: + message.name = OtherName.internalBinaryRead( + reader, + reader.uint32(), + options, + message.name + ) break case /* optional string variant_type */ 3: message.variantType = reader.string() @@ -12622,10 +12566,10 @@ class AlleleScv$Type extends MessageType { writer.tag(1, WireType.LengthDelimited).fork(), options ).join() - /* repeated annonars.clinvar_data.clinvar_public.OtherName names = 2; */ - for (let i = 0; i < message.names.length; i++) + /* annonars.clinvar_data.clinvar_public.OtherName name = 2; */ + if (message.name) OtherName.internalBinaryWrite( - message.names[i], + message.name, writer.tag(2, WireType.LengthDelimited).fork(), options ).join() @@ -12959,7 +12903,7 @@ class HaplotypeScv$Type extends MessageType { repeat: 1 /*RepeatType.PACKED*/, T: () => OtherName }, - { no: 4, name: 'classification', kind: 'message', T: () => AggregateClassificationSet }, + { no: 4, name: 'classifications', kind: 'message', T: () => AggregateClassificationSet }, { no: 5, name: 'functional_consequences', @@ -13032,12 +12976,12 @@ class HaplotypeScv$Type extends MessageType { case /* repeated annonars.clinvar_data.clinvar_public.OtherName other_names */ 3: message.otherNames.push(OtherName.internalBinaryRead(reader, reader.uint32(), options)) break - case /* optional annonars.clinvar_data.clinvar_public.AggregateClassificationSet classification */ 4: - message.classification = AggregateClassificationSet.internalBinaryRead( + case /* optional annonars.clinvar_data.clinvar_public.AggregateClassificationSet classifications */ 4: + message.classifications = AggregateClassificationSet.internalBinaryRead( reader, reader.uint32(), options, - message.classification + message.classifications ) break case /* repeated annonars.clinvar_data.clinvar_public.FunctionalConsequence functional_consequences */ 5: @@ -13108,10 +13052,10 @@ class HaplotypeScv$Type extends MessageType { writer.tag(3, WireType.LengthDelimited).fork(), options ).join() - /* optional annonars.clinvar_data.clinvar_public.AggregateClassificationSet classification = 4; */ - if (message.classification) + /* optional annonars.clinvar_data.clinvar_public.AggregateClassificationSet classifications = 4; */ + if (message.classifications) AggregateClassificationSet.internalBinaryWrite( - message.classification, + message.classifications, writer.tag(4, WireType.LengthDelimited).fork(), options ).join() @@ -13835,13 +13779,7 @@ class ClinicalAssertion$Type extends MessageType { repeat: 1 /*RepeatType.PACKED*/, T: () => ClinicalAssertionRecordHistory }, - { - no: 7, - name: 'classifications', - kind: 'message', - repeat: 1 /*RepeatType.PACKED*/, - T: () => ClassificationScv - }, + { no: 7, name: 'classifications', kind: 'message', T: () => ClassificationScv }, { no: 8, name: 'assertion', @@ -13908,7 +13846,6 @@ class ClinicalAssertion$Type extends MessageType { message.recordStatus = 0 message.replaces = [] message.replaceds = [] - message.classifications = [] message.assertion = 0 message.attributes = [] message.observedIns = [] @@ -13961,9 +13898,12 @@ class ClinicalAssertion$Type extends MessageType { ClinicalAssertionRecordHistory.internalBinaryRead(reader, reader.uint32(), options) ) break - case /* repeated annonars.clinvar_data.clinvar_public.ClassificationScv classifications */ 7: - message.classifications.push( - ClassificationScv.internalBinaryRead(reader, reader.uint32(), options) + case /* annonars.clinvar_data.clinvar_public.ClassificationScv classifications */ 7: + message.classifications = ClassificationScv.internalBinaryRead( + reader, + reader.uint32(), + options, + message.classifications ) break case /* annonars.clinvar_data.clinvar_public.Assertion assertion */ 8: @@ -14115,10 +14055,10 @@ class ClinicalAssertion$Type extends MessageType { writer.tag(6, WireType.LengthDelimited).fork(), options ).join() - /* repeated annonars.clinvar_data.clinvar_public.ClassificationScv classifications = 7; */ - for (let i = 0; i < message.classifications.length; i++) + /* annonars.clinvar_data.clinvar_public.ClassificationScv classifications = 7; */ + if (message.classifications) ClassificationScv.internalBinaryWrite( - message.classifications[i], + message.classifications, writer.tag(7, WireType.LengthDelimited).fork(), options ).join() diff --git a/src/pbs/google/protobuf/timestamp.ts b/src/pbs/google/protobuf/timestamp.ts index 478c7ba..1b97be9 100644 --- a/src/pbs/google/protobuf/timestamp.ts +++ b/src/pbs/google/protobuf/timestamp.ts @@ -201,7 +201,7 @@ class Timestamp$Type extends MessageType { * in the RFC 3339 format. */ internalJsonWrite(message: Timestamp, options: JsonWriteOptions): JsonValue { - const ms = PbLong.from(message.seconds).toNumber() * 1000 + let ms = PbLong.from(message.seconds).toNumber() * 1000 if (ms < Date.parse('0001-01-01T00:00:00Z') || ms > Date.parse('9999-12-31T23:59:59Z')) throw new Error( 'Unable to encode Timestamp to JSON. Must be from 0001-01-01T00:00:00Z to 9999-12-31T23:59:59Z inclusive.' @@ -210,7 +210,7 @@ class Timestamp$Type extends MessageType { throw new Error('Unable to encode invalid Timestamp to JSON. Nanos must not be negative.') let z = 'Z' if (message.nanos > 0) { - const nanosStr = (message.nanos + 1000000000).toString().substring(1) + let nanosStr = (message.nanos + 1000000000).toString().substring(1) if (nanosStr.substring(3) === '000000') z = '.' + nanosStr.substring(0, 3) + 'Z' else if (nanosStr.substring(6) === '000') z = '.' + nanosStr.substring(0, 6) + 'Z' else z = '.' + nanosStr + 'Z' @@ -224,11 +224,11 @@ class Timestamp$Type extends MessageType { internalJsonRead(json: JsonValue, options: JsonReadOptions, target?: Timestamp): Timestamp { if (typeof json !== 'string') throw new Error('Unable to parse Timestamp from JSON ' + typeofJsonValue(json) + '.') - const matches = json.match( + let matches = json.match( /^([0-9]{4})-([0-9]{2})-([0-9]{2})T([0-9]{2}):([0-9]{2}):([0-9]{2})(?:Z|\.([0-9]{3,9})Z|([+-][0-9][0-9]:[0-9][0-9]))$/ ) if (!matches) throw new Error('Unable to parse Timestamp from JSON. Invalid format.') - const ms = Date.parse( + let ms = Date.parse( matches[1] + '-' + matches[2] + @@ -267,10 +267,10 @@ class Timestamp$Type extends MessageType { options: BinaryReadOptions, target?: Timestamp ): Timestamp { - const message = target ?? this.create(), + let message = target ?? this.create(), end = reader.pos + length while (reader.pos < end) { - const [fieldNo, wireType] = reader.tag() + let [fieldNo, wireType] = reader.tag() switch (fieldNo) { case /* int64 seconds */ 1: message.seconds = reader.int64().toString() @@ -279,12 +279,12 @@ class Timestamp$Type extends MessageType { message.nanos = reader.int32() break default: - const u = options.readUnknownField + let u = options.readUnknownField if (u === 'throw') throw new globalThis.Error( `Unknown field ${fieldNo} (wire type ${wireType}) for ${this.typeName}` ) - const d = reader.skip(wireType) + let d = reader.skip(wireType) if (u !== false) (u === true ? UnknownFieldHandler.onRead : u)( this.typeName, @@ -306,7 +306,7 @@ class Timestamp$Type extends MessageType { if (message.seconds !== '0') writer.tag(1, WireType.Varint).int64(message.seconds) /* int32 nanos = 2; */ if (message.nanos !== 0) writer.tag(2, WireType.Varint).int32(message.nanos) - const u = options.writeUnknownFields + let u = options.writeUnknownFields if (u !== false) (u == true ? UnknownFieldHandler.onWrite : u)(this.typeName, message, writer) return writer } diff --git a/src/stores/geneInfo/__snapshots__/store.spec.ts.snap b/src/stores/geneInfo/__snapshots__/store.spec.ts.snap index 3f2b653..7fc5e5d 100644 --- a/src/stores/geneInfo/__snapshots__/store.spec.ts.snap +++ b/src/stores/geneInfo/__snapshots__/store.spec.ts.snap @@ -24026,7 +24026,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 4, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -24178,7 +24177,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -24426,7 +24424,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -24750,7 +24747,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -24938,7 +24934,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -25090,7 +25085,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -25242,7 +25236,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -25374,7 +25367,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -25566,7 +25558,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -25874,7 +25865,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -26046,7 +26036,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -26259,7 +26248,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 4, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -26412,7 +26400,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -26661,7 +26648,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -26986,7 +26972,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -27175,7 +27160,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -27328,7 +27312,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -27481,7 +27464,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -27614,7 +27596,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -27807,7 +27788,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -28116,7 +28096,6 @@ exports[`geneInfo Store > should load data 2`] = ` "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -53309,7 +53288,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 4, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -53461,7 +53439,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -53709,7 +53686,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -54033,7 +54009,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -54221,7 +54196,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -54373,7 +54347,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -54525,7 +54498,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -54657,7 +54629,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -54849,7 +54820,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -55157,7 +55127,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -55329,7 +55298,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -55542,7 +55510,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 4, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -55695,7 +55662,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -55944,7 +55910,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -56269,7 +56234,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -56458,7 +56422,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -56611,7 +56574,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -56764,7 +56726,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -56897,7 +56858,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -57090,7 +57050,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100", @@ -57399,7 +57358,6 @@ exports[`geneInfo Store > should not load data if gene symbol is the same 2`] = "reviewStatus": 6, "xrefs": [], }, - "somaticClinicalImpacts": [], }, "hgncIds": [ "HGNC:1100",