SYAP1
Chr Xsynapse associated protein 1
Also known as: BSTA, PRO3113, SAP47
The SYAP1 protein promotes mTORC2-mediated phosphorylation of AKT1 and plays a role in adipocyte differentiation and cellular responses to growth factors. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and developmental delay. The gene is highly constrained against loss-of-function variants (pLI 0.94, LOEUF 0.35), indicating that complete loss of function is likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
100 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 7 | 0 | 7 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 14 | 0 | 0 | 14 |
Likely Benign | 0 | 1 | 0 | 1 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 15 | 7 | 1 | 23 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SYAP1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools