{"entity":{"id":"pbrm1","kind":"target","name":"PBRM1","aka":["polybromo 1","BAF180","PB1","SMARCH1"],"tldr":"PBRM1 (polybromo 1) is a protein that switches other genes on and off. 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, Skin cancer, Biliary tract cancer and 5 more.","summary":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). Acts as a negative regulator of cell proliferation.\n\nCIViC holds 9 clinical evidence items and 0 assertions across 2 variants, naming Nivolumab, Everolimus, Pembrolizumab and Sunitinib and others. Open Targets scores its association with cancer at 0.81 (direct and indirect evidence; datatypes genetic literature 0.61, affected pathway 0.83, literature 0.99, genetic association 0.63, somatic mutation 0.97). IntOGen calls it a driver in 23 cohorts (1 activating, 22 loss-of-function), covering Renal Clear Cell Carcinoma, Cervical Adenocarcinoma, Cholangiocarcinoma, Colorectal Adenocarcinoma, Oesophageal Adenocarcinoma, Gallbladder Cancer and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30064","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30064"},{"label":"UniProt Q86U86","url":"https://www.uniprot.org/uniprotkb/Q86U86/entry"},{"label":"NCBI Gene 55193","url":"https://www.ncbi.nlm.nih.gov/gene/55193"},{"label":"Ensembl ENSG00000163939","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163939"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["rcc","skin-cancer","biliary-tract-cancer","esophageal","mesothelioma","cervical","colorectal","gastric"],"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 10 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 22 cohorts; CIViC holds 9 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."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PBRM1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:30064","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30064","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86U86","url":"https://www.uniprot.org/uniprotkb/Q86U86/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PBRM1","url":"https://civicdb.org/features/62","note":"9 evidence items, 0 assertions, 2 variants; diseases: Renal Cell Carcinoma, Clear Cell Renal Cell Carcinoma, Biliary Tract Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000163939","url":"https://platform.opentargets.org/target/ENSG00000163939/associations","note":"association with cancer (MONDO_0004992) 0.81; per-cancer scores at or above 0.5: renal cell carcinoma 0.74, melanoma 0.64, skin cancer 0.64, biliary tract cancer 0.64 (GraphQL API, CC0)"},{"label":"IntOGen PBRM1","url":"https://www.intogen.org/search?gene=PBRM1","note":"driver in 23 cohorts (Act 1, LoF 22); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:30064","ensembl":"ENSG00000163939","uniprot":"Q86U86","entrez":"55193","biology":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). Acts as a negative regulator of cell proliferation. Location: Nucleus (UniProt). Locus 3p21.1 (HGNC).","whereFound":["Renal cell carcinoma: Open Targets association 0.74 with renal cell carcinoma (MONDO_0005086); CIViC evidence names this disease","Skin cancer: Open Targets association 0.64 with skin cancer (MONDO_0002898)","Biliary tract cancer: Open Targets association 0.64 with biliary tract cancer (MONDO_0003060); CIViC evidence names this disease","Oesophageal cancer: IntOGen driver in 3 cohorts (ESCA)","Mesothelioma: IntOGen driver in 2 cohorts (PLMESO)","Cervical cancer: IntOGen driver in 1 cohort (CEAD)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/pbrm1/","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":"cervical","kind":"cancer","name":"Cervical cancer","route":"/cancers/cervical/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"gastric","kind":"cancer","name":"Gastric & gastro-oesophageal junction cancer","route":"/cancers/gastric/"},{"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/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}