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Relevance to Autism

In an association study (Weiss et al., 2009), TDT of the initial scan identified two SNPs in the GAS2 gene (rs12293188 and rs16910194) that showed association with ASD in the discovery stage (P=1.2E-05 and 4.2E-05, respectively); combination of case-control association analysis with TDT data resulted in P values of 1.1E-06 and 3.7E-06, respectively. However, neither SNP showed association in the replication stage. Meta-analysis of the combined cohorts yielded P-values of 3.0E-03 and 2.8E-04 for the two SNPs in the GAS2 gene.

Molecular Function

The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A genome-wide linkage and association scan reveals novel loci for autism.
ASD

Rare

No Rare Variants Available

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN373C001 
 intron_variant 
 rs12293188 
 c.724-13970G>A 
  
 AGRE and other sources 
 Discovery 
 GEN373C002 
 intron_variant 
 rs16910194 
 c.724-4432G>A 
  
 AGRE and other sources 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion-Duplication
 19
 
11
Deletion
 2
 
11
Duplication
 4
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Duplication
 1
 

No Animal Model Data Available

No PIN Data Available
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