{"entity":{"id":"bap1","kind":"target","name":"BAP1","aka":["BRCA1 associated deubiquitinase 1","Ubiquitin carboxyl-terminal hydrolase BAP1","hucep-6","KIAA0272","UCHL2"],"tldr":"BAP1 (Ubiquitin carboxyl-terminal hydrolase BAP1) is an enzyme. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Renal cell carcinoma, Mesothelioma, Biliary tract cancer and 5 more.","summary":"Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A and HCFC1. Catalytic component of the polycomb repressive deubiquitinase (PR-DUB) complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-120' (H2AK119ub1). Does not deubiquitinate monoubiquitinated histone H2B.\n\nCIViC holds 19 clinical evidence items and 0 assertions across 10 variants, naming Olaparib, Vorinostat, Valproic Acid and Everolimus and others. Open Targets scores its association with cancer at 0.88 (direct and indirect evidence; datatypes genetic literature 0.89, affected pathway 0.91, literature 0.99, genetic association 0.76, somatic mutation 0.94, animal model 0.38). IntOGen calls it a driver in 23 cohorts (3 activating, 20 loss-of-function), covering Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Cervical Squamous Cell Carcinoma, Cholangiocarcinoma, Oesophageal Adenocarcinoma, Hepatocellular Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:950","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:950"},{"label":"UniProt Q92560","url":"https://www.uniprot.org/uniprotkb/Q92560/entry"},{"label":"NCBI Gene 8314","url":"https://www.ncbi.nlm.nih.gov/gene/8314"},{"label":"Ensembl ENSG00000163930","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163930"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["rcc","mesothelioma","biliary-tract-cancer","hcc","gastric","breast-cancer","cervical","esophageal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 14 therapies; IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 20 cohorts; CIViC holds 19 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Malignant Mesothelioma; Renal Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BAP1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:950","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:950","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92560","url":"https://www.uniprot.org/uniprotkb/Q92560/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BAP1","url":"https://civicdb.org/features/70","note":"19 evidence items, 0 assertions, 10 variants; diseases: Malignant Mesothelioma, Clear Cell Renal Cell Carcinoma, Uveal Melanoma, Malignant Pleural Mesothelioma, Meningioma and 2 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000163930","url":"https://platform.opentargets.org/target/ENSG00000163930/associations","note":"association with cancer (MONDO_0004992) 0.88; per-cancer scores at or above 0.5: gastric cancer 0.54, hepatocellular carcinoma 0.53, cholangiocarcinoma 0.50, renal cell carcinoma 0.68, melanoma 0.82, malignant mesothelioma 0.68 (GraphQL API, CC0)"},{"label":"IntOGen BAP1","url":"https://www.intogen.org/search?gene=BAP1","note":"driver in 23 cohorts (Act 3, LoF 20); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:950","ensembl":"ENSG00000163930","uniprot":"Q92560","entrez":"8314","biology":"Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A and HCFC1. Catalytic component of the polycomb repressive deubiquitinase (PR-DUB) complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-120' (H2AK119ub1). Does not deubiquitinate monoubiquitinated histone H2B. The PR-DUB complex is an epigenetic regulator of gene expression and acts as a transcriptional coactivator, affecting genes involved in development, cell communication, signalling, cell proliferation and cell viability. Antagonises PRC1 mediated H2AK119ub1 monoubiquitination. As part of the PR-DUB complex, associates with chromatin enriched in histone marks H3K4me1, H3K4me3, and H3K27Ac, but not in H3K27me3. Location: Cytoplasm; Nucleus; Chromosome (UniProt). Locus 3p21.1 (HGNC).","whereFound":["Renal cell carcinoma: Open Targets association 0.68 with renal cell carcinoma (MONDO_0005086); CIViC evidence names this disease","Mesothelioma: Open Targets association 0.68 with malignant mesothelioma (MONDO_0006292); CIViC evidence names this disease","Biliary tract cancer: Open Targets association 0.64 with biliary tract cancer (MONDO_0003060)","Hepatocellular carcinoma: Open Targets association 0.53 with hepatocellular carcinoma (MONDO_0007256); IntOGen driver in 3 cohorts (HCC)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.54 with gastric cancer (MONDO_0001056); IntOGen driver in 1 cohort (STAD)","Breast cancer: IntOGen driver in 1 cohort (BRCA)"],"targetClass":"enzyme","prevalence":[]},"route":"/targets/bap1/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"biliary-tract-cancer","kind":"cancer","name":"Biliary tract cancer (all types)","route":"/cancers/biliary-tract-cancer/"},{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"cervical","kind":"cancer","name":"Cervical cancer","route":"/cancers/cervical/"},{"id":"gastric","kind":"cancer","name":"Gastric & gastro-oesophageal junction cancer","route":"/cancers/gastric/"},{"id":"hcc","kind":"cancer","name":"Hepatocellular carcinoma","route":"/cancers/hcc/"},{"id":"mesothelioma","kind":"cancer","name":"Mesothelioma","route":"/cancers/mesothelioma/"},{"id":"esophageal","kind":"cancer","name":"Oesophageal cancer","route":"/cancers/esophageal/"},{"id":"rcc","kind":"cancer","name":"Renal cell carcinoma","route":"/cancers/rcc/"}]}}