AGAP5
Homo sapiens
Gene Name: ArfGAP with GTPase domain, ankyrin repeat and PH domain 5
Aliases: CTGLF2
Chromosome No: 10
Chromosome Band: 10q22.2
Genetic Category: Rare single gene variant
Aliases: CTGLF2
Chromosome No: 10
Chromosome Band: 10q22.2
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 6
Evidence score: 2
ASD Reports: 2
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Integration of familial whole-exome datasets of 3,531 individuals from 1,704 simplex ASD families and 50 multiplex ASD families and expression data from the BrainSpan Atlas of the Developmental Human Brain in Luo et al., 2020 identified a neurodevelopmentally co-regulated, sex-differentially expressed cluster of exons enriched with ASD-segregating deleterious variants in the AGAP5 gene (Bonferroni-corrected cluster P-value of 2.21E-03).
Molecular Function
Putative GTPase-activating protein.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia
ASD