SMARCAL1 Back

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1

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NCBI Description of SMARCAL1
The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency.

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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

SMARCAL1 is highly significantly mutated in
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SMARCAL1 is significantly mutated in
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SMARCAL1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for SMARCAL1