# SMARCB1

Source: https://onco.cc/targets/smarcb1/  
OnCo record `smarcb1` (Target). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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.

CIViC 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.

## Fields

- Kind: Target
- Last checked: 2026-09-23
- Also known as: 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
- Tags: cancer-genes-wave
- Symbol: SMARCB1
- Class: transcription
- 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).
- Where found: 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

## 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.

## Sources

- HGNC HGNC:11103: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11103
- UniProt Q12824: https://www.uniprot.org/uniprotkb/Q12824/entry
- NCBI Gene 6598: https://www.ncbi.nlm.nih.gov/gene/6598
- Ensembl ENSG00000099956: https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000099956

## Connected records

- collections: [CIViC](https://onco.cc/collections/civic/), [IntOGen](https://onco.cc/collections/intogen/), [Open Targets Platform](https://onco.cc/collections/open-targets/)
- cancers: [Atypical teratoid/rhabdoid tumour (ATRT)](https://onco.cc/cancers/atrt/), [Epithelioid sarcoma](https://onco.cc/cancers/epithelioid-sarcoma/), [Medulloblastoma](https://onco.cc/cancers/medulloblastoma/), [Neuroendocrine tumours](https://onco.cc/cancers/neuroendocrine/), [Ovarian cancer](https://onco.cc/cancers/ovarian/), [Renal cell carcinoma](https://onco.cc/cancers/rcc/), [Sarcomas (soft tissue, bone, GIST)](https://onco.cc/cancers/sarcoma/), [Synovial sarcoma](https://onco.cc/cancers/synovial-sarcoma/)
- pathways: [SWI/SNF chromatin remodelling](https://onco.cc/pathways/swi-snf-chromatin/)
- trials: [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)](https://onco.cc/trials/nct03213665/)

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JSON: https://onco.cc/api/v1/entities/smarcb1.json