CCAR1

Chr 10

cell division cycle and apoptosis regulator 1

Also known as: uc.285+

NCBI Gene: 55749ENSG00000060339UniProt: Q8IX12OMIM: 612569

Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; transcription coactivator activity; and transcription corepressor activity. Involved in positive regulation of cell migration and positive regulation of cell population proliferation. Acts upstream of or within positive regulation of apoptotic process. Located in Golgi apparatus; nuclear envelope lumen; and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

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.
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.21
LOEUF· LoF intol.
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.21LOEUF
pLI 1.000
Z-score 6.95
OE 0.12 (0.07–0.21)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
3.64Z-score
OE missense 0.58 (0.53–0.64)
353 obs / 604.7 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.12 (0.07–0.21)
0≤0.351.4
Missense OE?0.58 (0.53–0.64)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 9 / 73.1Missense obs/exp: 353 / 604.7Syn Z: 1.55

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CCAR1 · 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