C6ORF163

Chr 6

chromosome 6 open reading frame 163

NCBI Gene: 206412ENSG00000203872UniProt: Q5TEZ5

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.99
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?
0.99LOEUF
pLI 0.001
Z-score 1.60
OE 0.53 (0.30–0.99)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.33Z-score
OE missense 0.71 (0.61–0.82)
114 obs / 161.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.53 (0.30–0.99)
0≤0.351.4
Missense OE?0.71 (0.61–0.82)
0≤0.61.4
Synonymous OE?0.66
0≤1.21.6
LoF obs/exp: 7 / 13.3Missense obs/exp: 114 / 161.4Syn Z: 1.94

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C6ORF163 · 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