COMMD8

Chr 4

COMM domain containing 8

NCBI Gene: 54951ENSG00000169019UniProt: Q9NX08OMIM: 616656

The protein encoded by this gene binds coiled-coil domain-containing protein 22 (CCDC22), and this complex can regulate the turnover of I-kappa-B and the activation of NF-kappa-B. [provided by RefSeq, Jul 2016]

OMIMResearchGenerating clinical summary…
0
Active trials
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Pubs (1 yr)
—
P/LP submissions
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P/LP missense
1.77
LOEUF
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Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.77LOEUF
pLI 0.000
Z-score -0.50
OE 1.16 (0.75–1.77)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.04Z-score
OE missense 0.99 (0.83–1.18)
90 obs / 91.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.16 (0.75–1.77)
0≤0.351.4
Missense OE?0.99 (0.83–1.18)
0≤0.61.4
Synonymous OE?1.27
0≤1.21.6
LoF obs/exp: 13 / 11.2Missense obs/exp: 90 / 91.1Syn Z: -1.23

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

COMMD8 · 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