RRN3

Chr 16

RNA polymerase I transcription factor RRN3

Also known as: A-270G1.2, TIFIA

NCBI Gene: 54700ENSG00000085721UniProt: Q9NYV6

Enables RNA polymerase I core promoter sequence-specific DNA binding activity and RNA polymerase I general transcription initiation factor activity. Involved in transcription initiation at RNA polymerase I promoter. Located in nucleolus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.65
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?
0.65LOEUF
pLI 0.000
Z-score 3.15
OE 0.41 (0.27–0.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.77Z-score
OE missense 1.12 (1.03–1.22)
381 obs / 341.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.41 (0.27–0.65)
0≤0.351.4
Missense OE?1.12 (1.03–1.22)
0≤0.61.4
Synonymous OE?1.26
0≤1.21.6
LoF obs/exp: 14 / 33.8Missense obs/exp: 381 / 341.0Syn Z: -2.32

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RRN3 · 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