CENPL

Chr 1

centromere protein L

Also known as: C1orf155, CENP-L, dJ383J4.3

NCBI Gene: 91687ENSG00000120334UniProt: Q8N0S6OMIM: 611503

CENPL is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006) [PubMed 16622420].[supplied by OMIM, Mar 2008]

OMIMResearchGenerating clinical summary…
LOEUF 0.63
Clinical Summary— CENPL
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.30) despite low pLI — interpret in context.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.63LOEUF
pLI 0.071
Z-score 2.66
OE 0.30 (0.15–0.63)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.76Z-score
OE missense 0.84 (0.74–0.96)
159 obs / 188.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.30 (0.15–0.63)
0≤0.351.4
Missense OE?0.84 (0.74–0.96)
0≤0.61.4
Synonymous OE?0.92
0≤1.21.6
LoF obs/exp: 5 / 16.7Missense obs/exp: 159 / 188.3Syn Z: 0.55

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CENPL · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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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