CDK15

Chr 2

cyclin dependent kinase 15

ENSG00000138395 UniProt: Q96Q40 OMIM: 616147

CDK15 encodes a serine/threonine protein kinase that phosphorylates BIRC5 and acts as an antiapoptotic protein by countering TRAIL-induced apoptosis. The gene shows minimal constraint against loss-of-function variants (pLI near zero), and no established Mendelian diseases have been definitively linked to CDK15 mutations in the current literature. Further research is needed to determine if CDK15 variants cause human disease.

OMIM ResearchSummary from RefSeq, UniProt

Serine/threonine-protein kinase that acts like an antiapoptotic protein that counters TRAIL/TNFSF10-induced apoptosis by inducing phosphorylation of BIRC5 at 'Thr-34'

OMIM ResearchGenerating clinical summary…

DNmechanismLOEUF 1.35

Clinical Summary— CDK15

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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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 0.13

OE 0.97 (0.71–1.35)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.00Z-score

OE missense 1.00 (0.90–1.11)

239 obs / 238.8 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.97 (0.71–1.35)

0≤0.351.4

Missense OE?1.00 (0.90–1.11)

0≤0.61.4

Synonymous OE?1.05

0≤1.21.6

LoF obs/exp: 26 / 26.7Missense obs/exp: 239 / 238.8Syn Z: -0.36

This gene — mechanism propensity

0.6358th %ile

GOF

0.6150th %ile

LOF

0.4429th %ile

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.