CDC20

Chr 1AR

cell division cycle 20

Also known as: CDC20A, OOMD14, OZEMA14, bA276H19.3, p55CDC

NCBI Gene: 991ENSG00000117399UniProt: Q12834OMIM: 603618

CDC20 appears to act as a regulatory protein interacting with several other proteins at multiple points in the cell cycle. It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
DNmechanismARLOEUF 0.841 OMIM phenotype
Clinical Summary— CDC20
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.84LOEUF
pLI 0.000
Z-score 2.22
OE 0.54 (0.36–0.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.83Z-score
OE missense 0.70 (0.63–0.79)
208 obs / 296.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.54 (0.36–0.84)
0≤0.351.4
Missense OE?0.70 (0.63–0.79)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 15 / 27.6Missense obs/exp: 208 / 296.7Syn Z: 1.14

This gene — mechanism propensity

DN
0.6938th %ile
GOF
0.3094th %ile
LOF
0.50top 25%

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CDC20 · 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