CELF4
Chr 18CUGBP Elav-like family member 4
Also known as: BRUNOL4, CELF-4
This protein regulates pre-mRNA alternative splicing and may also be involved in mRNA editing and translation through its three RNA recognition motif domains. Loss-of-function mutations in CELF4 cause neurodevelopmental disorders with an autosomal dominant inheritance pattern. The gene is highly intolerant to loss-of-function variants, indicating that haploinsufficiency is the likely pathogenic mechanism.
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
168 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 | 45 | 0 | 45 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 14 | 60 | 11 | 0 | 85 |
Likely Benign | 0 | 8 | 4 | 9 | 21 |
Benign | 0 | 1 | 2 | 3 | 6 |
Conflicting | — | 2 | |||
| Total | 14 | 69 | 65 | 12 | 162 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CELF4 · 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