DAPP1
Homo sapiens
Gene Name: Dual adaptor of phosphotyrosine and 3-phosphoinositides
Aliases: HSPC066, BAM32
Chromosome No: 4
Chromosome Band: 4q23
Genetic Category: Rare single gene variant
Aliases: HSPC066, BAM32
Chromosome No: 4
Chromosome Band: 4q23
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 3
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 3
Evidence score: 2
Associated Disorders: |
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Relevance to Autism
A novel recurrent duplication involving the DAPP1 gene was identified in two unrelated ASD cases (Prasad et al., 2012).
Molecular Function
May act as a B-cell-associated adapter that regulates B-cell antigen receptor (BCR)-signaling downstream of PI3K.
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism.
OCD