UTP18
Chr 17UTP18 small subunit processome component
Also known as: CGI-48, WDR50
Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in nuclear membrane; nucleolus; and nucleoplasm. Part of small-subunit processome. [provided by Alliance of Genome Resources, Jul 2025]
Clinical Summary— UTP18
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
11 Pathogenic / Likely Pathogenic· 92 VUS of 105 total submissions
Some data sources returned errors (1)
ensembl: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.63LOEUF
pLI 0.002
Z-score 2.97
OE 0.36 (0.22–0.63)
Typical tolerance to LoF variation
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.21Z-score
OE missense 1.03 (0.94–1.14)
304 obs / 294.0 exp
Tolerant to missense variation
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.36 (0.22–0.63)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.03 (0.94–1.14)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.15
0≤1.21.6
LoF obs/exp: 9 / 25.0Missense obs/exp: 304 / 294.0Syn Z: -1.20
ClinVar Variant Classifications
105 submitted variants in ClinVar
Classification Summary
Pathogenic10
Likely Pathogenic1
VUS92
Likely Benign2
10
Pathogenic
1
Likely Pathogenic
92
VUS
2
Likely Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 10 | 0 | 10 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 92 | 0 | 0 | 92 |
Likely Benign | 0 | 2 | 0 | 0 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 94 | 11 | 0 | 105 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UTP18 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
UTP18 SMALL SUBUNIT PROCESSOME COMPONENT; UTP18
MIM #612816 · *
External Resources
Links to major genomics databases and tools
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
A small subunit processome protein promotes cancer by altering translation.
Yang HW et al.·Oncogene
2015
UTP18-mediated p21 mRNA instability drives adenoma-carcinoma progression in colorectal cancer.
Pan M et al.·Cell Rep
2023
Dynamics of WD-repeat containing proteins in SSU processome components.
Wada K et al.·Biochem Cell Biol
2014
Genome-wide evidences of bisphenol a toxicity using Schizosaccharomyces pombe.
Kim DM et al.·Arch Pharm Res
2018
The Exosome Is Recruited to RNA Substrates through Specific Adaptor Proteins.
Thoms M et al.·Cell
2015
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Arabidopsis ribosomal RNA processing meerling mutants exhibit suspensor-derived polyembryony due to direct reprogramming of the suspensor
Wang H et al.·Plant Cell
2024
New Insights into nuclear import and nucleolar localization of yeast RNA exosome subunits.
Neto VG et al.·Mol Biol Cell
2025
Informatics Approach Towards Targeting HTR1B Pathways in Neuropharmacology for Migraine Treatment
Ahmad S et al.·Curr Neuropharmacol
2025
Comprehensive analysis identifies long non-coding RNA RNASEH1-AS1 as a potential prognostic biomarker and oncogenic target in hepatocellular carcinoma.
Sun J et al.·Am J Cancer Res
2024
Type 2 Diabetes Mellitus and its comorbidity, Alzheimer's disease: Identifying critical microRNA using machine learning
Alamro H et al.·Front Endocrinol (Lausanne)
2023
Helicase-mediated mechanism of SSU processome maturation and disassembly
Buzovetsky O et al.·Nature
2025Functional
Cms1 coordinates stepwise local 90S pre-ribosome assembly with timely snR83 release
Lau B et al.·Cell Rep
2022
WDR75: An essential protein for ribosome assembly undergoing purifying selection
Lee L et al.·PLoS One
2025
Top 9 full-text resultsSearch PubTator3 ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools