CCDC112

Chr 5

coiled-coil domain containing 112

Also known as: MBC1

NCBI Gene: 153733ENSG00000164221UniProt: Q8NEF3

Located in centriolar satellite. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
LOEUF 0.37
Clinical Summary— CCDC112
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.85) — some intolerance to loss-of-function variants.
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.37LOEUF
pLI 0.849
Z-score 4.05
OE 0.18 (0.09–0.37)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
-0.11Z-score
OE missense 1.02 (0.92–1.13)
256 obs / 250.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.18 (0.09–0.37)
0≤0.351.4
Missense OE?1.02 (0.92–1.13)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 5 / 28.2Missense obs/exp: 256 / 250.9Syn Z: -0.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CCDC112 · 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