CCDC6

Chr 10

coiled-coil domain containing 6

Also known as: D10S170, H4, PTC, PTC1, TPC, TST1

NCBI Gene: 8030ENSG00000108091UniProt: Q16204OMIM: 601985

This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
3
Active trials
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Pubs (1 yr)
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P/LP submissions
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P/LP missense
0.43
LOEUF
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.43LOEUF
pLI 0.577
Z-score 3.64
OE 0.20 (0.11–0.43)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.81Z-score
OE missense 0.52 (0.46–0.60)
144 obs / 275.1 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.20 (0.11–0.43)
0≤0.351.4
Missense OE?0.52 (0.46–0.60)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 5 / 24.4Missense obs/exp: 144 / 275.1Syn Z: 0.82

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CCDC6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

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