C15ORF32

Chr 15

chromosome 15 putative open reading frame 32

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.

LOEUF 1.53
Clinical SummaryC15ORF32
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
41 unique Pathogenic / Likely Pathogenic· 1 VUS of 43 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.53LOEUF
pLI 0.001
Z-score 0.62
OE 0.74 (0.391.53)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.10Z-score
OE missense 0.97 (0.821.15)
93 obs / 95.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.74 (0.391.53)
00.351.4
Missense OE0.97 (0.821.15)
00.61.4
Synonymous OE1.17
01.21.6
LoF obs/exp: 5 / 6.7Missense obs/exp: 93 / 95.8Syn Z: -0.80

ClinVar Variant Classifications

43 submitted variants in ClinVar

Classification Summary

Pathogenic37
Likely Pathogenic4
VUS1
Likely Benign1
37
Pathogenic
4
Likely Pathogenic
1
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
37
Likely Pathogenic
4
VUS
1
Likely Benign
1
Benign
0
Total43

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

C15ORF32 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found