RPS10-NUDT3

Chr 6

RPS10-NUDT3 readthrough

NCBI Gene: 100529239ENSG00000270800

This locus represents naturally occurring read-through transcription between the neighboring RPS10 (ribosomal protein S10) and NUDT3 (nudix (nucleoside diphosphate linked moiety X)-type motif 3) genes on chromosome 6. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.34
LOEUF· LoF intol.
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.34LOEUF
pLI 0.952
Z-score 3.54
OE 0.11 (0.04–0.34)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.75Z-score
OE missense 0.62 (0.53–0.73)
105 obs / 169.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.11 (0.04–0.34)
0≤0.351.4
Missense OE?0.62 (0.53–0.73)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 2 / 18.3Missense obs/exp: 105 / 169.2Syn Z: 0.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RPS10-NUDT3 · 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