NAT10

Chr 11

N-acetyltransferase 10

Also known as: ALP, Kre33, NET43

NCBI Gene: 55226ENSG00000135372UniProt: Q9H0A0

The protein encoded by this gene is an RNA cytidine acetyltransferase involved in histone acetylation, tRNA acetylation, the biosynthesis of 18S rRNA, and the enhancement of nuclear architecture and chromatin organization. [provided by RefSeq, Oct 2016]

ResearchGenerating clinical summary…
0
Active trials
248
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.91
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?
0.91LOEUF
pLI 0.000
Z-score 2.12
OE 0.71 (0.55–0.91)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.17Z-score
OE missense 0.86 (0.80–0.93)
505 obs / 584.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.71 (0.55–0.91)
0≤0.351.4
Missense OE?0.86 (0.80–0.93)
0≤0.61.4
Synonymous OE?0.82
0≤1.21.6
LoF obs/exp: 43 / 60.9Missense obs/exp: 505 / 584.7Syn Z: 2.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NAT10 · 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