GSPT1
Chr 16G1 to S phase transition 1
Also known as: 551G9.2, ETF3A, GST1, eRF3a
GSPT1 encodes a GTPase that mediates translation termination at stop codons and is a component of the nonsense-mediated decay pathway that eliminates aberrant mRNAs. Mutations cause autosomal dominant neurodevelopmental disorder with intellectual disability, seizures, and movement abnormalities. This gene is highly constrained against loss-of-function variants, indicating intolerance to haploinsufficiency.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
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
GSPT1 · 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
Study of CT-01 as Monotherapy and Combination Therapy in Subjects With Intermediate or Advanced Hepatocellular Carcinoma
NOT YET RECRUITINGStudy of Oral MRT-2359 in Selected Cancer Patients
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools