SYPsynaptophysin
Autism Reports / Total Reports
3 / 6Rare Variants / Common Variants
5 / 0Aliases
SYP, MRX96, MRXSYPAssociated Syndromes
-Chromosome Band
Xp11.23Associated Disorders
-Relevance to Autism
A de novo missense variant in the SYP gene was identified in an ASD proband (Satterstrom et al., 2020), while a maternally-inherited missense variant in this gene was identified in a male ASD proband from a cohort of 100 Vietnamese children with ASD (Tran et al., 2020). Mutations in the SYP gene had previously been identified in 4 families with X-linked mental retardation in Tarpey et al., 2009.
Molecular Function
This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compartments.
External Links
SFARI Genomic Platforms
Reports related to SYP (6 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Support | A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation | Tarpey PS et al. (2009) | No | - |
2 | Primary | Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism | Satterstrom FK et al. (2020) | Yes | - |
3 | Support | Genetic landscape of autism spectrum disorder in Vietnamese children | Tran KT et al. (2020) | Yes | - |
4 | Support | - | Zhou X et al. (2022) | Yes | - |
5 | Support | - | Axel Schmidt et al. (2024) | No | - |
6 | Support | - | Mathew Wallis et al. (2024) | No | - |
Rare Variants (5)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.596C>T | p.Ser199Leu | missense_variant | Unknown | - | - | 39039281 | Axel Schmidt et al. (2024) | |
c.239dup | p.Tyr81ValfsTer3 | frameshift_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.201C>G | p.Ile67Met | missense_variant | De novo | - | Simplex | 39095811 | Mathew Wallis et al. (2024) | |
c.85G>A | p.Val29Met | missense_variant | De novo | - | Simplex | 31981491 | Satterstrom FK et al. (2020) | |
c.251C>G | p.Ala84Gly | missense_variant | Familial | Maternal | Simplex | 32193494 | Tran KT et al. (2020) |
Common Variants
No common variants reported.
SFARI Gene score
Suggestive Evidence


Score Delta: Score remained at 3
criteria met
See SFARI Gene'scoring criteriaThe literature is replete with relatively small studies of candidate genes, using either common or rare variant approaches, which do not reach the criteria set out for categories 1 and 2. Genes that had two such lines of supporting evidence were placed in category 3, and those with one line of evidence were placed in category 4. Some additional lines of "accessory evidence" (indicated as "acc" in the score cards) could also boost a gene from category 4 to 3.
4/1/2022

Increased from to 3
Krishnan Probability Score
Score 0.49741933999345
Ranking 2394/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.61198499651012
Ranking 4934/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.92440370127086
Ranking 9982/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score 0.21618312239322
Ranking 3997/20870 scored genes
[Show Scoring Methodology]