SCHIP1
Chr 3schwannomin interacting protein 1
Also known as: SCHIP-1
SCHIP1 enables identical protein binding activity and is predicted to be involved in positive regulation of hippo signaling and various developmental processes including face morphogenesis. Mutations cause autosomal dominant neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities. The gene is highly constrained against loss-of-function variants, consistent with its role in essential developmental pathways.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SCHIP1 · 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