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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.

External Links

        

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
Integrating de novo and inherited variants in 42
ASD
Support
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism.
OCD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN494R001 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN494R002 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN494R003 
 missense_variant 
 c.352G>A 
 p.Glu118Lys 
 De novo 
  
 Simplex 
 GEN494R004 
 missense_variant 
 c.764G>C 
 p.Arg255Pro 
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
4
Duplication
 1
 
4
Duplication
 1
 
4
Deletion-Duplication
 12
 

No Animal Model Data Available

No PIN Data Available
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