PSD3
Homo sapiens
Gene Name: pleckstrin and Sec7 domain containing 3
Aliases: EFA6R, HCA67
Chromosome No: 8
Chromosome Band: 8p22
Genetic Category: Rare Single Gene variant-Genetic association
Aliases: EFA6R, HCA67
Chromosome No: 8
Chromosome Band: 8p22
Genetic Category: Rare Single Gene variant-Genetic association
Summary Statistics:
ASD Reports: 7
Recent Reports: 0
Annotated variants: 11
Associated CNVs: 13
Evidence score: 2
ASD Reports: 7
Recent Reports: 0
Annotated variants: 11
Associated CNVs: 13
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Rare mutations involving the PSD3 gene have been identified in individuals with ASD (Pinto et al., 2010).
Molecular Function
This protein is a guanine nucleotide exchange factor for ARF6.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Support
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
ASD
ID
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN329C001
intron_variant
rs2410572
c.2785-7612C>T;c.1183-7612C>T;c.2695-7612C>T;c.2845-7612C>T;c.2824-7612C>T;c.2782-7612C>T;c.2686-761
40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets)
Discovery
