HELP     Sign In
Search

Relevance to Autism

A novel recurrent duplication involving the SYAP1 gene was identified in two unrelated ASD cases (Prasad et al., 2012).

Molecular Function

SYAP1 is the human homolog of the SAP47 gene in Drosophila. Lack of SAP47 in Drosophila results in impaired short-term synaptic and behavioral plasticity (Saumweber et al., 2011).

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
Behavioral and synaptic plasticity are impaired upon lack of the synaptic protein SAP47.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN504R001 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN504R002 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN504R003 
 copy_number_gain 
  
  
 Unknown 
  
 Unknown 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 17
 
X
Deletion
 1
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Deletion
 2
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 

No Animal Model Data Available

 

No Interactions Available
HELP
Copyright © 2017 MindSpec, Inc.