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Relevance to Autism

SNAP25+/- mice exhibit hyperactivity, cognitive and social impairment (Braida et al., 2015). In this same report, a SNP encompassing a regulatory element of SNAP25 (rs363050) was shown to associate with both CARS scores (p=0.005) and cognitive scores (p=0.003) in an ASD cohort, while a SNP within intron 1 of the SNAP25 gene (rs363043) had previously been shown to associate with both increasing CARS (p=0.001) and hyperactivity scores (p=0.006) in a separate ASD cohort (Guerini et al., 2011).

Molecular Function

This gene encodes a t-SNARE involved in the molecular regulation of neurotransmitter release that associates with proteins involved in vesicle docking and membrane fusion and may play an important role in the synaptic function of specific neuronal systems. Polymorphisms in this gene have been shown to associate with ADHD.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Association between SNAP-25 gene polymorphisms and cognition in autism: functional consequences and potential therapeutic strategies.
ASD
Positive Association
SNAP-25 single nucleotide polymorphisms are associated with hyperactivity in autism spectrum disorders.
ASD
Positive Association
Family-based association study identifies SNAP25 as a susceptibility gene for autism in the Han Chinese population
ASD
Positive Association
Synaptosome-Associated Protein 25 (SNAP25) Gene Association Analysis Revealed Risk Variants for ASD, in Iranian Population.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
ASD
Support
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Epilepsy/seizures
DD, ID
Support
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnose...
Neurodevelopment disorder
Support
Epilepsy/seizures
Recent Recommendation
Reduced SNAP-25 increases PSD-95 mobility and impairs spine morphogenesis.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN701R001 
 missense_variant 
 c.142G>T 
 p.Val48Phe 
 De novo 
  
  
 GEN701R002 
 missense_variant 
 c.496G>T 
 p.Asp166Tyr 
 De novo 
  
 Simplex 
 GEN701R003a 
 intergenic_variant 
  
  
 Familial 
 Both parents 
 Simplex 
 GEN701R004 
 synonymous_variant 
 c.513C>T 
 p.Ile171%3D 
 De novo 
  
 Multiplex 
 GEN701R005 
 missense_variant 
 c.170T>G 
 p.Leu57Arg 
 Unknown 
  
 Simplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN701C001 
 intron_variant 
 rs363050 
 c.-63-21820G>A;c.-370-21820G>A 
 A/G 
 46 Italian children with ASD 
 Discovery 
 GEN701C002 
 intron_variant 
 rs363043 
 c.-64+26521C>T;c.-64+26285C>T;c.-64+18060C>T;c.-371+26521C>T 
  
 67 Italian children with ASD 
 Discovery 
 GEN701C003 
 3_prime_UTR_variant 
 rs3746544 
 c.*239G>T 
  
 524 Iranian ASD patients and 472 age-, gender-, and ethnically-matched healthy controls 
 Discovery 
 GEN701C004 
 intron_variant 
 rs363018 
 c.-63-19846A>G 
  
 640 Han Chinese autism trios 
 Discovery 
 GEN701C005 
 3_prime_UTR_variant 
 rs8636 
 c.*897T>C 
  
 641 Han Chinese autism trios 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
20
Duplication
 1
 
20
Duplication
 4
 
20
Duplication
 1
 
20
Duplication
 1
 
20
Duplication
 1
 
20
Duplication
 3
 

No Animal Model Data Available





Download SNAP25's Cytoscape file


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