CELF1
Chr 11CUGBP Elav-like family member 1
Also known as: BRUNOL2, CUG-BP, CUGBP, CUGBP1, EDEN-BP, NAB50, NAPOR, hNab50
CELF1 encodes an RNA-binding protein that regulates alternative splicing, mRNA translation, and stability across multiple tissues including heart and muscle. Mutations cause autosomal dominant myotonic dystrophy type 1, a multisystem disorder affecting skeletal muscle, cardiac conduction, and other organ systems with variable age of onset. The gene is highly constrained against loss-of-function variants, reflecting its essential role in RNA processing.
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
CELF1 · 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