CCNL1

Chr 3

cyclin L1

Also known as: ANIA6A, BM-001, PRO1073, ania-6a

NCBI Gene: 57018 ENSG00000163660 UniProt: Q9UK58 OMIM: 613384

Predicted to enable cyclin-dependent protein serine/threonine kinase regulator activity. Involved in regulation of RNA splicing. Located in nucleus. Part of cyclin-dependent protein kinase holoenzyme complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.26

Clinical Summary— CCNL1

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.26LOEUF

pLI 0.996

Z-score 4.51

OE 0.10 (0.05–0.26)

Highly constrained

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

Missense Constraint?

2.60Z-score

OE missense 0.58 (0.51–0.66)

176 obs / 303.7 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.10 (0.05–0.26)

0≤0.351.4

Missense OE?0.58 (0.51–0.66)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 3 / 29.4Missense obs/exp: 176 / 303.7Syn Z: 0.28

This gene — mechanism propensity

0.3793th %ile

GOF

0.3193th %ile

LOF

0.81top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.26

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.