Human Gene Module / Chromosome 3 / SATB1

SATB1SATB homeobox 1

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
1 / 2
Rare Variants / Common Variants
3 / 0
Aliases
-
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
3p24.3
Associated Disorders
-
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.

Reports related to SATB1 (2 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism Satterstrom FK et al. (2020) Yes -
2 Support Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability Chevarin M et al. (2020) No Marfanoid habitus
Rare Variants   (3)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.1205A>G p.Gln402Arg missense_variant De novo NA Simplex 31981491 Satterstrom FK et al. (2020)
c.1460del p.Pro487GlnfsTer6 frameshift_variant De novo NA Simplex 31981491 Satterstrom FK et al. (2020)
c.1004_1005del p.Arg335ThrfsTer20 frameshift_variant De novo NA Unknown 32277047 Chevarin M et al. (2020)
Common Variants  

No common variants reported.

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SFARI Gene Update

We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community. The version of SFARI Gene that has been developed until now will be frozen and will remain available as “SFARI Gene Archive”. Please see the announcement for more details.
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