POLR3F

Chr 20

RNA polymerase III subunit F

Also known as: C34, IMD101, RPC39, RPC6

The protein encoded by this gene is one of more than a dozen subunits forming eukaryotic RNA polymerase III (RNA Pol III), which transcribes 5S ribosomal RNA and tRNA genes. This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA polymerase III transcription initiation factor IIIB (TFIIIB). Unlike most of the other RNA Pol III subunits, the encoded protein is unique to this polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmunodeficiency 101, varicella zoster virus-specific
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
1.07
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.07LOEUF
pLI 0.000
Z-score 1.35
OE 0.66 (0.421.07)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.65Z-score
OE missense 0.64 (0.550.76)
109 obs / 169.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.66 (0.421.07)
00.351.4
Missense OE?0.64 (0.550.76)
00.61.4
Synonymous OE?0.82
01.21.6
LoF obs/exp: 12 / 18.2Missense obs/exp: 109 / 169.4Syn Z: 1.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

POLR3F · 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

No active trials found for this gene.

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