SNAP25Synaptosomal-associated protein, 25kDa
Autism Reports / Total Reports
6 / 10Rare Variants / Common Variants
5 / 5Aliases
SNAP25, RIC-4, RIC4, SEC9, SNAP, SNAP-25, bA416N4.2, dJ1068F16.2Associated Syndromes
-Chromosome Band
20p12.2Associated Disorders
DD/NDD, IDRelevance 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
SFARI Genomic Platforms
Reports related to SNAP25 (10 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Positive Association | SNAP-25 single nucleotide polymorphisms are associated with hyperactivity in autism spectrum disorders | Guerini FR , et al. (2011) | Yes | - |
2 | Primary | Association between SNAP-25 gene polymorphisms and cognition in autism: functional consequences and potential therapeutic strategies | Braida D , et al. (2015) | Yes | - |
3 | Recent Recommendation | Reduced SNAP-25 increases PSD-95 mobility and impairs spine morphogenesis | Fossati G , et al. (2015) | No | - |
4 | Support | Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases | Farwell Hagman KD , et al. (2016) | No | - |
5 | Positive Association | Synaptosome-Associated Protein 25 (SNAP25) Gene Association Analysis Revealed Risk Variants for ASD, in Iranian Population | Safari MR , et al. (2016) | Yes | - |
6 | Support | High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies | Hamdan FF , et al. (2017) | No | DD, ID |
7 | Positive Association | Family-based association study identifies SNAP25 as a susceptibility gene for autism in the Han Chinese population | Wang Z et al. (2020) | Yes | - |
8 | Support | - | Tuncay IO et al. (2022) | Yes | - |
9 | Support | - | Zhou X et al. (2022) | Yes | - |
10 | Support | - | Sanchis-Juan A et al. (2023) | No | - |
Rare Variants (5)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | intergenic_variant | Familial | Both parents | Simplex | 35190550 | Tuncay IO et al. (2022) | |
c.513C>T | p.Ile171%3D | synonymous_variant | De novo | - | Multiplex | 35982159 | Zhou X et al. (2022) | |
c.496G>T | p.Asp166Tyr | missense_variant | De novo | - | Simplex | 29100083 | Hamdan FF , et al. (2017) | |
c.142G>T | p.Val48Phe | missense_variant | De novo | - | - | 27513193 | Farwell Hagman KD , et al. (2016) | |
c.170T>G | p.Leu57Arg | missense_variant | Unknown | - | Simplex | 37541188 | Sanchis-Juan A et al. (2023) |
Common Variants (5)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.-64+26521C>T;c.-64+26285C>T;c.-64+18060C>T;c.-371+26521C>T | - | intron_variant | - | - | - | 21497654 | Guerini FR , et al. (2011) | |
c.-63-19846A>G | - | intron_variant | - | - | - | 32479779 | Wang Z et al. (2020) | |
c.*897T>C | - | 3_prime_UTR_variant | - | - | - | 32479779 | Wang Z et al. (2020) | |
c.*239G>T | - | 3_prime_UTR_variant | - | - | - | 27888397 | Safari MR , et al. (2016) | |
c.-63-21820G>A;c.-370-21820G>A | A/G | intron_variant | - | - | - | 25629685 | Braida D , et al. (2015) |
SFARI Gene score
Strong Candidate
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). A SNP in the 3'UTR of the SNAP25 gene was shown to associate with ASD in an Iranian case-control association analysis (with an allele P-value of 2.0E-03) in Safari et al., 2017.
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022
Decreased from 3 to 2
Description
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). A SNP in the 3'UTR of the SNAP25 gene was shown to associate with ASD in an Iranian case-control association analysis (with an allele P-value of 2.0E-03) in Safari et al., 2017.
4/1/2020
Decreased from 3 to 3
Description
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). A SNP in the 3'UTR of the SNAP25 gene was shown to associate with ASD in an Iranian case-control association analysis (with an allele P-value of 2.0E-03) in Safari et al., 2017.
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
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). A SNP in the 3'UTR of the SNAP25 gene was shown to associate with ASD in an Iranian case-control association analysis (with an allele P-value of 2.0E-03) in Safari et al., 2017.
Reports Added
[New Scoring Scheme]10/1/2017
Increased from to 4
Description
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). A SNP in the 3'UTR of the SNAP25 gene was shown to associate with ASD in an Iranian case-control association analysis (with an allele P-value of 2.0E-03) in Safari et al., 2017.
Krishnan Probability Score
Score 0.76650813193569
Ranking 6/25841 scored genes
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ExAC Score
Score 0.95980653025193
Ranking 2534/18225 scored genes
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Sanders TADA Score
Score 0.91495836343562
Ranking 8245/18665 scored genes
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Zhang D Score
Score 0.25459764069435
Ranking 3412/20870 scored genes
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