C10ORF88

Chr 10

chromosome 10 open reading frame 88

Also known as: PAAT

NCBI Gene: 80007ENSG00000119965UniProt: Q9H8K7

Enables ATP hydrolysis activity. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.72
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.72LOEUF
pLI 0.013
Z-score 2.38
OE 0.37 (0.20–0.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.47Z-score
OE missense 0.91 (0.81–1.02)
205 obs / 224.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.20–0.72)
0≤0.351.4
Missense OE?0.91 (0.81–1.02)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 6 / 16.4Missense obs/exp: 205 / 224.9Syn Z: 0.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C10ORF88 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients