PAPOLB

Chr 7

poly(A) polymerase beta

Also known as: PAPT, TPAP

NCBI Gene: 56903ENSG00000218823UniProt: Q9NRJ5

Predicted to enable poly(A) RNA polymerase activity. Predicted to be involved in RNA 3'-end processing and mRNA processing. Predicted to be located in endoplasmic reticulum. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.81
LOEUF
Multiple*
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.81LOEUF
pLI 0.002
Z-score 2.12
OE 0.43 (0.24–0.81)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.15Z-score
OE missense 1.02 (0.94–1.12)
344 obs / 336.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.43 (0.24–0.81)
0≤0.351.4
Missense OE?1.02 (0.94–1.12)
0≤0.61.4
Synonymous OE?1.35
0≤1.21.6
LoF obs/exp: 7 / 16.2Missense obs/exp: 344 / 336.3Syn Z: -3.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PAPOLB · 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