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Relevance to Autism

Two de novo missense variants in the SRGAP3 gene (one predicted to be probably damaging, the other predicted to be possibly damaging) were identified in ASD probands from the Simons Simplex Collection in Iossifov et al., 2014.

Molecular Function

GTPase-activating protein for RAC1 and perhaps Cdc42, but not for RhoA small GTPase. May attenuate RAC1 signaling in neurons.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
ASD
Support
The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation.
ID
Recent Recommendation
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
DD
Recent Recommendation
ASD-Associated De Novo Mutations in Five Actin Regulators Show Both Shared and Distinct Defects in Dendritic Spines and Inhibitory Synapses in Cult...

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN879R001 
 missense_variant 
 c.1405G>A 
 p.Glu469Lys 
 De novo 
 NA 
 Simplex 
 GEN879R002 
 missense_variant 
 c.2329G>A 
 p.Ala777Thr 
 De novo 
 NA 
 Simplex 
 GEN879R003 
 missense_variant 
 c.610C>T 
 p.Arg204Trp 
 De novo 
 NA 
  
 GEN879R004 
 translocation 
  
  
 De novo 
 NA 
 Simplex 
 GEN879R005 
 missense_variant 
 c.1811T>C 
 p.Ile604Thr 
 De novo 
 NA 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 19
 
3
Deletion
 1
 
3
Duplication
 3
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 2
 
3
Deletion
 2
 
3
Duplication
 1
 

No Animal Model Data Available

No PIN Data Available
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