PBRM1
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.
Overview
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.
CIViC 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.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · 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.
- 1 · What it is
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.
- 2 · What goes wrong in cancer
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).
- 3 · How drugs use it
No product in this corpus aims at PBRM1 yet. Transcription factors have no pocket to plug, so drugs either degrade them or block the partner protein they need to dock on DNA.
External identifiers
Sources: HGNC HGNC:30064 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q86U86 (protein name, function text, keywords and locations (REST API)); CIViC gene PBRM1 (9 evidence items, 0 assertions, 2 variants; diseases: Renal Cell Carcinoma, Clear Cell Renal Cell Carcinoma, Biliary Tract Cancer (GraphQL API, CC0)); Open Targets ENSG00000163939 (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)); IntOGen PBRM1 (driver in 23 cohorts (Act 1, LoF 22); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
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).
- 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)
Notes
top- 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.
Latest papers
topQuery for this target: (TITLE:"PBRM1" OR ABSTRACT:"PBRM1" OR TITLE:"polybromo 1" OR ABSTRACT:"polybromo 1" OR TITLE:"BAF180" OR ABSTRACT:"BAF180" OR TITLE:"PB1" OR ABSTRACT:"PB1" OR TITLE:"SMARCH1" OR ABSTRACT:"SMARCH1") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about PBRM1, not a curated reading list.
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