SYAP1Synapse associated protein 1
Autism Reports / Total Reports
1 / 2Rare Variants / Common Variants
2 / 0Aliases
SYAP1, PRO3113Associated Syndromes
-Chromosome Band
Xp22.2Associated Disorders
-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
SFARI Genomic Platforms
Reports related to SYAP1 (2 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Support | Behavioral and synaptic plasticity are impaired upon lack of the synaptic protein SAP47 | Saumweber T , et al. (2011) | No | - |
2 | Primary | A discovery resource of rare copy number variations in individuals with autism spectrum disorder | Prasad A , et al. (2013) | Yes | - |
Rare Variants (2)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | copy_number_gain | Unknown | - | Unknown | 23275889 | Prasad A , et al. (2013) | |
- | - | copy_number_gain | Familial | Maternal | Simplex | 23275889 | Prasad A , et al. (2013) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
A recurrent 19.17 kb exon-disrupting duplication affecting the SYAP1 gene was identified in two unrelated male ASD probands in Prasad et al., 2012; however, this duplication was also transmitted to an unaffected male sibling in one family, and there was no comparison with controls reported. 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).
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
A recurrent 19.17 kb exon-disrupting duplication affecting the SYAP1 gene was identified in two unrelated male ASD probands in Prasad et al., 2012; however, this duplication was also transmitted to an unaffected male sibling in one family, and there was no comparison with controls reported. 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).
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
A recurrent 19.17 kb exon-disrupting duplication affecting the SYAP1 gene was identified in two unrelated male ASD probands in Prasad et al., 2012; however, this duplication was also transmitted to an unaffected male sibling in one family, and there was no comparison with controls reported. 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).
Reports Added
[New Scoring Scheme]10/1/2017
Increased from to 4
Description
A recurrent 19.17 kb exon-disrupting duplication affecting the SYAP1 gene was identified in two unrelated male ASD probands in Prasad et al., 2012; however, this duplication was also transmitted to an unaffected male sibling in one family, and there was no comparison with controls reported. 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).
Krishnan Probability Score
Score 0.4142370965352
Ranking 21685/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.50211006775461
Ranking 5440/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.92168554086735
Ranking 9424/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score -0.15370989239113
Ranking 14232/20870 scored genes
[Show Scoring Methodology]