C6ORF47

Chr 6

chromosome 6 open reading frame 47

Also known as: D6S53E, G4, NG34

NCBI Gene: 57827ENSG00000204439UniProt: O95873

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.98
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?
0.98LOEUF
pLI 0.066
Z-score 1.61
OE 0.38 (0.17–0.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.73Z-score
OE missense 0.84 (0.73–0.97)
142 obs / 168.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.38 (0.17–0.98)
0≤0.351.4
Missense OE?0.84 (0.73–0.97)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 3 / 7.9Missense obs/exp: 142 / 168.7Syn Z: 0.89

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C6ORF47 · 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