CEP70

Chr 3

centrosomal protein 70

Also known as: BITE

NCBI Gene: 80321 ENSG00000114107 UniProt: Q8NHQ1 OMIM: 614310

Enables identical protein binding activity. Predicted to be involved in cilium assembly. Predicted to act upstream of or within several processes, including microtubule cytoskeleton organization; single fertilization; and spermatid development. Located in centrosome. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.99

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.99LOEUF

pLI 0.000

Z-score 1.58

OE 0.73 (0.54–0.99)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.04Z-score

OE missense 1.01 (0.91–1.11)

281 obs / 279.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.73 (0.54–0.99)

0≤0.351.4

Missense OE?1.01 (0.91–1.11)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 28 / 38.6Missense obs/exp: 281 / 279.1Syn Z: -0.09

Background carrier burden — how many people carry a rare variant somewhere in CEP70?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 74

732 rare PASS variants

Rare truncating (LoF)

1 in 580

195 rare PASS variants

Rare synonymous (reference)

1 in 150

244 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CEP70. 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 120	1 in 620
South Asian	~43k	1 in 95	1 in 400
Remaining (unassigned)	~30k	1 in 65	1 in 370
European (Finnish)	~27k	1 in 200	1 in 1,500
Admixed American	~22k	1 in 100	1 in 310
African / African American	~21k	1 in 62	1 in 420
East Asian	~20k	1 in 110	1 in 460
Ashkenazi Jewish	~13k	1 in 360	1 in 1,300
Middle Eastern	~2,883	1 in 74	1 in 460

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 7 of 16 coding exons well covered in gnomAD exomes; exons 3, 4, 5, 8, 9 and 4 more marginal. Genomes: all 16.? see exons ↓