CSDE1
Chr 1cold shock domain containing E1
Also known as: D1S155E, UNR
The CSDE1 protein is an RNA-binding protein that regulates mRNA stability and translation, and is required for stress granule formation during cellular stress. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability, developmental delay, and variable features including seizures and behavioral abnormalities. This gene is highly constrained against loss-of-function variants in the population, indicating that such mutations are likely to be pathogenic.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
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
CSDE1 · 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
External Resources
Links to major genomics databases and tools