C15ORF32

Chr 15

chromosome 15 putative open reading frame 32

NCBI Gene: 145858 ENSG00000183643 UniProt: Q32M92

The C15ORF32 protein is poorly characterized with no well-established cellular function. Mutations in this gene have not been definitively associated with any recognized human disease or clinical phenotype. This gene shows low constraint against loss-of-function variants, suggesting that disruption may be well-tolerated in humans.

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.53

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.53LOEUF

pLI 0.001

Z-score 0.62

OE 0.74 (0.39–1.53)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.10Z-score

OE missense 0.97 (0.82–1.15)

93 obs / 95.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.74 (0.39–1.53)

0≤0.351.4

Missense OE?0.97 (0.82–1.15)

0≤0.61.4

Synonymous OE?1.17

0≤1.21.6

LoF obs/exp: 5 / 6.7Missense obs/exp: 93 / 95.8Syn Z: -0.80

Background carrier burden — how many people carry a rare variant somewhere in C15ORF32?

gnomAD v4 · ~605k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 12,000

9 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in C15ORF32; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 3 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~475k	none seen	1 in 12,000
South Asian	~41k	none seen	1 in 5,100
African / African American	~21k	none seen	1 in 1,900

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.