URGCP-MRPS24

Chr 7

URGCP-MRPS24 readthrough

NCBI Gene: 100534592ENSG00000270617

This locus represents naturally occurring read-through transcription between the neighboring URGCP (upregulator of cell proliferation) and MRPS24 (mitochondrial ribosomal protein S24) genes on chromosome 7. The read-through transcript is predicted to encode a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to a frameshift relative to the downstream gene. [provided by RefSeq, Mar 2011]

0
Active trials
8
Pathogenic / LP
128
ClinVar variants
0
Pubs (1 yr)
0.9
Missense Z
1.35
LOEUF
Clinical Summary— URGCP-MRPS24
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
8 Pathogenic / Likely Pathogenic· 104 VUS of 128 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.35LOEUF
pLI 0.001
Z-score 0.86
OE 0.69 (0.38–1.35)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.86Z-score
OE missense 0.70 (0.55–0.90)
45 obs / 64.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.69 (0.38–1.35)
0≤0.351.4
Missense OE0.70 (0.55–0.90)
0≤0.61.4
Synonymous OE0.61
0≤1.21.6
LoF obs/exp: 6 / 8.7Missense obs/exp: 45 / 64.4Syn Z: 1.51

ClinVar Variant Classifications

128 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8
VUS104
Likely Benign8
Benign8
8
Pathogenic
104
VUS
8
Likely Benign
8
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
8
0
8
Likely Pathogenic
0
0
0
0
0
VUS
0
104
0
0
104
Likely Benign
0
6
0
2
8
Benign
0
1
0
7
8
Total011189128

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

URGCP-MRPS24 · 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 →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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