CCNYL1 encodes a key regulator of Wnt signaling that activates cyclin-dependent kinase CDK16 and is essential for sperm maturation, embryonic neurogenesis, and cortical development. The gene is highly constrained against loss-of-function variants (LOEUF 0.494), but no definitive human disease associations have been established in the provided data. Given its role in neurogenesis and cortical development, mutations would likely affect brain development and male fertility.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.49
Clinical SummaryCCNYL1
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.59) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.49LOEUF
pLI 0.586
Z-score 2.97
OE 0.19 (0.090.49)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.62Z-score
OE missense 0.63 (0.540.75)
98 obs / 154.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.19 (0.090.49)
00.351.4
Missense OE0.63 (0.540.75)
00.61.4
Synonymous OE0.88
01.21.6
LoF obs/exp: 3 / 15.7Missense obs/exp: 98 / 154.9Syn Z: 0.70

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CCNYL1 · 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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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC