CELF3

Chr 1

CUGBP Elav-like family member 3

Also known as: BRUNOL1, CAGH4, ERDA4, ETR-1, TNRC4

NCBI Gene: 11189ENSG00000159409UniProt: Q5SZQ8OMIM: 612678

Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]

OMIMResearchGenerating clinical summary…
LOEUF 0.39
Clinical Summary— CELF3
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.77) — some intolerance to loss-of-function variants.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Missense constrained — critical functional residues
LoF Constraint?
0.39LOEUF
pLI 0.768
Z-score 3.90
OE 0.19 (0.10–0.39)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
3.30Z-score
OE missense 0.44 (0.38–0.51)
121 obs / 274.8 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.19 (0.10–0.39)
0≤0.351.4
Missense OE?0.44 (0.38–0.51)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 5 / 26.8Missense obs/exp: 121 / 274.8Syn Z: 1.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CELF3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients