CCPG1

Chr 15

cell cycle progression 1

Also known as: CPR8

NCBI Gene: 9236 ENSG00000260916 UniProt: Q9ULG6

Involved in positive regulation of cell cycle and positive regulation of cell population proliferation. Acts upstream of or within reticulophagy. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.56

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.56LOEUF

pLI 0.001

Z-score 3.54

OE 0.35 (0.22–0.56)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.99Z-score

OE missense 0.86 (0.79–0.94)

350 obs / 406.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.35 (0.22–0.56)

0≤0.351.4

Missense OE?0.86 (0.79–0.94)

0≤0.61.4

Synonymous OE?1.08

0≤1.21.6

LoF obs/exp: 12 / 34.5Missense obs/exp: 350 / 406.1Syn Z: -0.72

Background carrier burden — how many people carry a rare variant somewhere in CCPG1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 65

1,033 rare PASS variants

Rare truncating (LoF)

1 in 930

151 rare PASS variants

Rare synonymous (reference)

1 in 160

382 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CCPG1. 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 96	1 in 1,200
South Asian	~43k	1 in 55	1 in 470
Remaining (unassigned)	~30k	1 in 41	1 in 670
European (Finnish)	~27k	1 in 100	1 in 2,300
Admixed American	~22k	1 in 55	1 in 1,700
African / African American	~21k	1 in 40	1 in 1,200
East Asian	~20k	1 in 83	1 in 1,500
Ashkenazi Jewish	~13k	1 in 120	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 49	none seen

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): 5 of 8 coding exons well covered in gnomAD exomes; exons 3, 4, 7 marginal. Genomes: all 8.? see exons ↓