RPAP3

Chr 12

RNA polymerase II associated protein 3

Also known as: Tah1, hSpagh

NCBI Gene: 79657ENSG00000005175UniProt: Q9H6T3

This gene encodes an RNA polymerase II-associated protein. The encoded protein may function in transcriptional regulation and may also regulate apoptosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

ResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.58
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.58LOEUF
pLI 0.000
Z-score 3.58
OE 0.37 (0.24–0.58)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.43Z-score
OE missense 0.93 (0.85–1.03)
303 obs / 324.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.24–0.58)
0≤0.351.4
Missense OE?0.93 (0.85–1.03)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 14 / 37.7Missense obs/exp: 303 / 324.6Syn Z: -0.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RPAP3 · 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