RPP25

Chr 15

ribonuclease P/MRP subunit p25

NCBI Gene: 54913 ENSG00000178718 UniProt: Q9BUL9

Enables ribonuclease P RNA binding activity. Contributes to ribonuclease P activity. Involved in tRNA 5'-leader removal. Located in nucleoplasm. Part of multimeric ribonuclease P complex and ribonuclease MRP complex. Biomarker of autistic disorder. [provided by Alliance of Genome Resources, Jun 2026]

Research

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.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.50

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?

1.50LOEUF

pLI 0.209

Z-score 1.03

OE 0.35 (0.12–1.50)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.72Z-score

OE missense 0.81 (0.68–0.96)

92 obs / 113.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.35 (0.12–1.50)

0≤0.351.4

Missense OE?0.81 (0.68–0.96)

0≤0.61.4

Synonymous OE?0.72

0≤1.21.6

LoF obs/exp: 1 / 2.9Missense obs/exp: 92 / 113.7Syn Z: 1.61

Background carrier burden — how many people carry a rare variant somewhere in RPP25?

gnomAD v4 · ~730k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 420

341 rare PASS variants

Rare truncating (LoF)

1 in 1,200

30 rare PASS variants

Rare synonymous (reference)

1 in 310

154 rare PASS variants

Rare missense and truncating variants are carried at similar rates in RPP25; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 530	1 in 1,200
South Asian	~43k	1 in 270	1 in 2,800
Remaining (unassigned)	~30k	1 in 450	1 in 1,200
European (Finnish)	~26k	1 in 520	1 in 1,200
Admixed American	~22k	1 in 150	1 in 1,600
African / African American	~21k	1 in 270	1 in 2,300
East Asian	~20k	1 in 330	≈ 1 in 4,900
Ashkenazi Jewish	~13k	1 in 740	none seen
Middle Eastern	~2,884	1 in 400	≈ 1 in 1,400

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓