C4ORF51

Chr 4

chromosome 4 open reading frame 51

NCBI Gene: 646603ENSG00000237136UniProt: C9J302

ResearchGenerating clinical summary…
0
Active trials
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Pubs (1 yr)
—
P/LP submissions
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P/LP missense
1.41
LOEUF
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Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.41LOEUF
pLI 0.000
Z-score 0.59
OE 0.81 (0.49–1.41)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.25Z-score
OE missense 1.07 (0.92–1.25)
114 obs / 106.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.81 (0.49–1.41)
0≤0.351.4
Missense OE?1.07 (0.92–1.25)
0≤0.61.4
Synonymous OE?1.24
0≤1.21.6
LoF obs/exp: 9 / 11.1Missense obs/exp: 114 / 106.7Syn Z: -1.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C4ORF51 · 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.

Search ClinicalTrials.gov →

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