POLR1H

Chr 6

RNA polymerase I subunit H

Also known as: A12.2, HTEX-6, HTEX6, Rpa12, TCTEX6, TEX6, ZNRD1, ZR14

NCBI Gene: 30834ENSG00000066379UniProt: Q9P1U0

This gene encodes a DNA-directed RNA polymerase I subunit. The encoded protein contains two potential zinc-binding motifs and may play a role in regulation of cell proliferation. The encoded protein may be involved in cancer and human immunodeficiency virus progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

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
0
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 0.207
Z-score 1.73
OE 0.29 (0.12–0.91)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.00Z-score
OE missense 0.68 (0.54–0.85)
52 obs / 76.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.29 (0.12–0.91)
0≤0.351.4
Missense OE?0.68 (0.54–0.85)
0≤0.61.4
Synonymous OE?0.75
0≤1.21.6
LoF obs/exp: 2 / 6.9Missense obs/exp: 52 / 76.8Syn Z: 1.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

POLR1H · 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