C4ORF17

Chr 4

chromosome 4 open reading frame 17

NCBI Gene: 84103ENSG00000138813UniProt: Q53FE4

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.43
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.43LOEUF
pLI 0.000
Z-score 0.36
OE 0.90 (0.58–1.43)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.60Z-score
OE missense 0.88 (0.77–1.00)
162 obs / 185.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.90 (0.58–1.43)
0≤0.351.4
Missense OE?0.88 (0.77–1.00)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 13 / 14.5Missense obs/exp: 162 / 185.1Syn Z: 0.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C4ORF17 · 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