SMARCB1 Back

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

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NCBI Description of SMARCB1

The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Two transcript variants encoding different isoforms have been found for this gene.

Community Annotation of SMARCB1 Add / Edit SMARCB1: Annotations

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Sort mutations by: Tumor type  Mutation type  Position  
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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

SMARCB1 is highly significantly mutated in
Rhabdoid tumor
RHAB
7 patients (20%)
SMARCB1 is significantly mutated in
Esophageal adenocarcinoma
ESO
3 patients (2%)
combined cohort
PanCan
36 patients (0%)
SMARCB1 is near significance in
Ovarian
OV
5 patients (1%)

Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for SMARCB1