C1ORF54

Chr 1

chromosome 1 open reading frame 54

NCBI Gene: 79630ENSG00000118292UniProt: Q8WWF1

Predicted to act upstream of or within epithelial cell proliferation involved in renal tubule morphogenesis; phosphatidylinositol 3-kinase/protein kinase B signal transduction; and response to wounding. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.58
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.58LOEUF
pLI 0.000
Z-score 0.45
OE 0.82 (0.45–1.58)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.34Z-score
OE missense 1.11 (0.93–1.33)
83 obs / 74.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.82 (0.45–1.58)
0≤0.351.4
Missense OE?1.11 (0.93–1.33)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 6 / 7.3Missense obs/exp: 83 / 74.7Syn Z: 0.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C1ORF54 · 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