CDK10

Chr 16AR

cyclin dependent kinase 10

The protein is a cyclin-dependent kinase that regulates actin cytoskeleton organization and acts as a negative regulator of ciliogenesis through phosphorylation of downstream targets. Mutations cause autosomal recessive spinocerebellar ataxia-32 with onset in childhood or adolescence, characterized by progressive ataxia, intellectual disability, and movement disorders. The gene is extremely intolerant to loss-of-function variants, indicating critical developmental importance.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismARLOEUF 1.451 OMIM phenotype
Clinical SummaryCDK10
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.45LOEUF
pLI 0.000
Z-score -0.15
OE 1.03 (0.751.45)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.46Z-score
OE missense 1.09 (0.981.21)
252 obs / 232.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.03 (0.751.45)
00.351.4
Missense OE1.09 (0.981.21)
00.61.4
Synonymous OE1.34
01.21.6
LoF obs/exp: 24 / 23.2Missense obs/exp: 252 / 232.2Syn Z: -2.61
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
limitedCDK10-related severe growth retardation, spine malformations, and developmental delaysLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.6936th %ile
GOF
0.5563th %ile
LOF
0.4038th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

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

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CDK10 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗