WDR75

Chr 2

WD repeat domain 75

Also known as: NET16, UTP17

NCBI Gene: 84128ENSG00000115368UniProt: Q8IWA0

Enables RNA binding activity. Involved in positive regulation of rRNA processing; positive regulation of transcription by RNA polymerase I; and ribosomal small subunit biogenesis. Located in nucleolus. Part of small-subunit processome. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
30
Pathogenic / LP
112
ClinVar variants
3
Pubs (1 yr)
1.2
Missense Z
0.54
LOEUF
Clinical Summary— WDR75
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
30 Pathogenic / Likely Pathogenic· 81 VUS of 112 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.54LOEUF
pLI 0.000
Z-score 4.07
OE 0.36 (0.25–0.54)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.21Z-score
OE missense 0.83 (0.76–0.91)
353 obs / 423.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.36 (0.25–0.54)
0≤0.351.4
Missense OE0.83 (0.76–0.91)
0≤0.61.4
Synonymous OE1.04
0≤1.21.6
LoF obs/exp: 17 / 47.2Missense obs/exp: 353 / 423.1Syn Z: -0.35

ClinVar Variant Classifications

112 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic29
Likely Pathogenic1
VUS81
Likely Benign1
29
Pathogenic
1
Likely Pathogenic
81
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
29
0
29
Likely Pathogenic
0
0
1
0
1
VUS
0
79
2
0
81
Likely Benign
0
0
1
0
1
Benign
0
0
0
0
0
Total079330112

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

View in ClinVar →

WDR75 · 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 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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