POP1

Chr 8

POP1 ribonuclease P/MRP subunit

Also known as: ANXD2

NCBI Gene: 10940ENSG00000104356UniProt: Q8WXC3

This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

ResearchGenerating clinical summary…
0
Active trials
21
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.76
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?
0.76LOEUF
pLI 0.000
Z-score 2.97
OE 0.56 (0.41–0.76)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.12Z-score
OE missense 0.87 (0.81–0.94)
495 obs / 570.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.56 (0.41–0.76)
0≤0.351.4
Missense OE?0.87 (0.81–0.94)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 29 / 52.2Missense obs/exp: 495 / 570.3Syn Z: 1.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

POP1 · 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