TTC39C

Chr 18

tetratricopeptide repeat domain 39C

Also known as: C18orf17, HsT2697

NCBI Gene: 125488ENSG00000168234UniProt: Q8N584

Predicted to be involved in cilium assembly and otolith morphogenesis. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.58
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.58LOEUF
pLI 0.000
Z-score 3.47
OE 0.36 (0.23–0.58)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.43Z-score
OE missense 0.77 (0.69–0.85)
226 obs / 295.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.23–0.58)
0≤0.351.4
Missense OE?0.77 (0.69–0.85)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 12 / 33.8Missense obs/exp: 226 / 295.1Syn Z: 0.61

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TTC39C · 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