RPP38

Chr 10

ribonuclease P/MRP subunit p38

This protein is a component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends, and also participates in the MRP ribonuclease complex involved in pre-rRNA processing. Based on the provided data, no specific diseases have been definitively associated with RPP38 mutations. The gene shows low constraint against loss-of-function variants (pLI 0.0002, LOEUF 1.615), suggesting that heterozygous loss-of-function mutations may be tolerated.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
1
Pubs (1 yr)
0
P/LP submissions
P/LP missense
1.61
LOEUF
Mechanism
Clinical SummaryRPP38
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.61LOEUF
pLI 0.000
Z-score 0.38
OE 0.85 (0.461.61)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.22Z-score
OE missense 1.05 (0.921.19)
166 obs / 158.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.85 (0.461.61)
00.351.4
Missense OE1.05 (0.921.19)
00.61.4
Synonymous OE1.16
01.21.6
LoF obs/exp: 6 / 7.1Missense obs/exp: 166 / 158.3Syn Z: -0.99

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RPP38 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC