Aliases:
Chromosome No: 3
Chromosome Band: 3p24.3
Genetic Category: Rare single gene variant-Syndromic
ASD Reports: 4
Recent Reports: 1
Annotated variants: 40
Associated CNVs: 6
Evidence score: 4
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Relevance to Autism
Two de novo variants in the SATB1 gene (one protein-truncating, one missense) were identified in ASD probands from the Autism Sequencing Consortium, while three additional protein-truncating variants in this gene were observed in case samples from the Danish iPSYCH study (Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified SATB1 as a candidate gene with a false discovery rate (FDR) between 0.01 and 0.05 (0.01 < FDR 0.05).
Molecular Function
This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression.
External Links
