WDR75

Chr 2

WD repeat domain 75

Also known as: NET16, UTP17

NCBI Gene: 84128ENSG00000115368UniProt: Q8IWA0OMIM: 620341

WDR75 encodes a ribosome biogenesis factor that is part of the small subunit processome and involved in nucleolar processing of pre-18S ribosomal RNA and optimal pre-ribosomal RNA transcription by RNA polymerase I. The gene is highly constrained against loss-of-function variants (LOEUF 0.541), but no definitive disease associations have been established for this gene. Clinical correlation is required when interpreting variants in WDR75.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.54
Clinical Summary— WDR75
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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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

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

WDR75 · 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

ClinicalTrials.gov

No active trials found for this gene.

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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