CENPQ

Chr 6

centromere protein Q

Also known as: C6orf139, CENP-Q

NCBI Gene: 55166ENSG00000031691UniProt: Q7L2Z9

CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.35
LOEUF
DN
Mechanism· predicted
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?
1.35LOEUF
pLI 0.000
Z-score 0.59
OE 0.83 (0.53–1.35)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.27Z-score
OE missense 0.93 (0.80–1.09)
112 obs / 120.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.83 (0.53–1.35)
0≤0.351.4
Missense OE?0.93 (0.80–1.09)
0≤0.61.4
Synonymous OE?1.14
0≤1.21.6
LoF obs/exp: 12 / 14.4Missense obs/exp: 112 / 120.3Syn Z: -0.70

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CENPQ · 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