CEP126

Chr 11

centrosomal protein 126

Also known as: KIAA1377

NCBI Gene: 57562 ENSG00000110318 UniProt: Q9P2H0 OMIM: 614634

Involved in cilium assembly; cytoplasmic microtubule organization; and mitotic spindle organization. Located in centrosome; ciliary base; and midbody. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.96

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.96LOEUF

pLI 0.000

Z-score 1.76

OE 0.72 (0.55–0.96)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.56Z-score

OE missense 0.93 (0.87–1.00)

518 obs / 554.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.72 (0.55–0.96)

0≤0.351.4

Missense OE?0.93 (0.87–1.00)

0≤0.61.4

Synonymous OE?1.04

0≤1.21.6

LoF obs/exp: 34 / 47.0Missense obs/exp: 518 / 554.9Syn Z: -0.40

Background carrier burden — how many people carry a rare variant somewhere in CEP126?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 53

1,318 rare PASS variants

Rare truncating (LoF)

1 in 600

200 rare PASS variants

Rare synonymous (reference)

1 in 140

482 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CEP126. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 76	1 in 1,100
South Asian	~43k	1 in 40	1 in 230
Remaining (unassigned)	~30k	1 in 42	1 in 410
European (Finnish)	~27k	1 in 120	1 in 3,800
Admixed American	~22k	1 in 53	1 in 600
African / African American	~21k	1 in 39	1 in 420
East Asian	~20k	1 in 55	1 in 480
Ashkenazi Jewish	~13k	1 in 160	1 in 2,500
Middle Eastern	~2,884	1 in 49	≈ 1 in 920

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 7 of 11 coding exons well covered in gnomAD exomes; exons 4, 7, 8, 10 marginal. Genomes: all 11.? see exons ↓