{"entity":{"id":"smarcb1","kind":"target","name":"SMARCB1","aka":["SWI/SNF related BAF chromatin remodeling complex subunit B1","SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1","BAF47","Ini1","INI-1","Snr1","hSNFS","Sfh1p","PPP1R144","SNF5","SNF5L1"],"tldr":"SMARCB1 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.","summary":"Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumour formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal.\n\nCIViC holds 24 clinical evidence items and 4 assertions across 5 variants, naming Tazemetostat and Panobinostat. Open Targets scores its association with cancer at 0.88 (direct and indirect evidence; datatypes genetic literature 0.91, affected pathway 0.87, literature 0.99, genetic association 0.85, somatic mutation 0.88, animal model 0.65). IntOGen calls it a driver in 5 cohorts (4 activating, 1 loss-of-function), covering Atypical Teratoid/Rhabdoid Tumour, Medulloblastoma, Neuroblastoma, Pancreatic Neuroendocrine Tumour, Pilocytic Astrocytoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11103","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11103"},{"label":"UniProt Q12824","url":"https://www.uniprot.org/uniprotkb/Q12824/entry"},{"label":"NCBI Gene 6598","url":"https://www.ncbi.nlm.nih.gov/gene/6598"},{"label":"Ensembl ENSG00000099956","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000099956"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["sarcoma","neuroendocrine","rcc","ovarian","atrt","epithelioid-sarcoma","synovial-sarcoma","medulloblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["swi-snf-chromatin"],"terms":[],"trials":["nct03213665"],"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 2 therapies; IntOGen calls it an activating (Act) driver in 4 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 24 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: Poorly Differentiated Chordoma; Rhabdoid Cancer; Cribriform Neuroepithelial Tumour; Renal Medullary Carcinoma; SMARCB1-deficient Renal Medullary Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SMARCB1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11103","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11103","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q12824","url":"https://www.uniprot.org/uniprotkb/Q12824/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SMARCB1","url":"https://civicdb.org/features/5356","note":"24 evidence items, 4 assertions, 5 variants; diseases: Poorly Differentiated Chordoma, Atypical Teratoid Rhabdoid Tumour, Rhabdoid Cancer, Epithelioid Sarcoma, Cribriform Neuroepithelial Tumour and 4 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000099956","url":"https://platform.opentargets.org/target/ENSG00000099956/associations","note":"association with cancer (MONDO_0004992) 0.88; per-cancer scores at or above 0.5: renal cell carcinoma 0.55, ovarian cancer 0.51, sarcoma 0.87 (GraphQL API, CC0)"},{"label":"IntOGen SMARCB1","url":"https://www.intogen.org/search?gene=SMARCB1","note":"driver in 5 cohorts (Act 4, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:11103","ensembl":"ENSG00000099956","uniprot":"Q12824","entrez":"6598","biology":"Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumour formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. Location: Nucleus (UniProt). Locus 22q11.23 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.87 with sarcoma (MONDO_0005089)","Neuroendocrine tumours: IntOGen driver in 1 cohort (PANET)","Renal cell carcinoma: Open Targets association 0.55 with renal cell carcinoma (MONDO_0005086)","Ovarian cancer: Open Targets association 0.51 with ovarian cancer (MONDO_0008170)","Atypical teratoid/rhabdoid tumour: CIViC evidence names this disease; IntOGen driver in 1 cohort (ATRT)","Epithelioid sarcoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},"route":"/targets/smarcb1/","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":"atrt","kind":"cancer","name":"Atypical teratoid/rhabdoid tumour (ATRT)","route":"/cancers/atrt/"},{"id":"epithelioid-sarcoma","kind":"cancer","name":"Epithelioid sarcoma","route":"/cancers/epithelioid-sarcoma/"},{"id":"medulloblastoma","kind":"cancer","name":"Medulloblastoma","route":"/cancers/medulloblastoma/"},{"id":"neuroendocrine","kind":"cancer","name":"Neuroendocrine tumours","route":"/cancers/neuroendocrine/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"rcc","kind":"cancer","name":"Renal cell carcinoma","route":"/cancers/rcc/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"},{"id":"synovial-sarcoma","kind":"cancer","name":"Synovial sarcoma","route":"/cancers/synovial-sarcoma/"}],"pathway":[{"id":"swi-snf-chromatin","kind":"pathway","name":"SWI/SNF chromatin remodelling","route":"/pathways/swi-snf-chromatin/"}],"trial":[{"id":"nct03213665","kind":"trial","name":"Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial)","route":"/trials/nct03213665/"}]}}