THUMPD1

Chr 16

THUMP domain 1 NAT10 acetyltransferase adaptor

Also known as: NEDSOA, Tan1

NCBI Gene: 55623ENSG00000066654UniProt: Q9NXG2

Enables RNA binding activity. Predicted to be involved in tRNA modification. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with speech delay and variable ocular anomalies
0
Active trials
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.58
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?
1.58LOEUF
pLI 0.000
Z-score -0.21
OE 1.06 (0.72–1.58)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.48Z-score
OE missense 0.90 (0.80–1.02)
169 obs / 187.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.06 (0.72–1.58)
0≤0.351.4
Missense OE?0.90 (0.80–1.02)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 17 / 16.1Missense obs/exp: 169 / 187.4Syn Z: 0.59

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

THUMPD1 · 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