Gene: SMARCB1

Alternate names for this Gene: BAF47|CSS3|INI1|MRD15|PPP1R144|RDT|RTPS1|SNF5|SNF5L1|SWNTS1|Sfh1p|Snr1|hSNFS

Gene Summary: 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. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.23|22q11

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

Type of Gene: protein-coding

rs5760054 in SMARCB1 gene and Fractional shortening PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs398122368 in SMARCB1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 22726846 2012 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

PMID 25168959 2014 Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

rs1555875915 in SMARCB1 gene and Neoplastic Syndromes, Hereditary PMID 19902524 2010 Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor.

rs1555877276 in SMARCB1 gene and RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) PMID 21208904 2011 Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor.

PMID 10521299 1999 Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers.

PMID 20848638 2011 Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system.

PMID 26998479 2015 Whole Exome- and mRNA-Sequencing of an AT/RT Case Reveals Few Somatic Mutations and Several Deregulated Signalling Pathways in the Context of SMARCB1 Deficiency.

PMID 21108436 2011 Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors.

PMID 24933152 2014 SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors.

PMID 18647326 2008 Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis.

PMID 23815551 2014 Coffin-Siris syndrome is a SWI/SNF complex disorder.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.