WDSUB1

Chr 2

WD repeat, sterile alpha motif and U-box domain containing 1

Also known as: UBOX6, WDSAM1

NCBI Gene: 151525 ENSG00000196151 UniProt: Q8N9V3 OMIM: 620802

Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in protein ubiquitination. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in protein ubiquitination. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.36

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.36LOEUF

pLI 0.000

Z-score 0.24

OE 0.94 (0.67–1.36)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.34Z-score

OE missense 0.94 (0.84–1.05)

232 obs / 247.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.94 (0.67–1.36)

0≤0.351.4

Missense OE?0.94 (0.84–1.05)

0≤0.61.4

Synonymous OE?0.88

0≤1.21.6

LoF obs/exp: 21 / 22.2Missense obs/exp: 232 / 247.2Syn Z: 0.93

Background carrier burden — how many people carry a rare variant somewhere in WDSUB1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 70

558 rare PASS variants

Rare truncating (LoF)

1 in 480

141 rare PASS variants

Rare synonymous (reference)

1 in 350

206 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for WDSUB1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 79	1 in 450
South Asian	~43k	1 in 110	1 in 950
Remaining (unassigned)	~30k	1 in 67	1 in 490
European (Finnish)	~27k	1 in 300	1 in 3,000
Admixed American	~22k	1 in 79	1 in 1,000
African / African American	~21k	1 in 92	1 in 580
East Asian	~20k	1 in 100	1 in 1,300
Ashkenazi Jewish	~13k	1 in 240	1 in 980
Middle Eastern	~2,884	1 in 130	≈ 1 in 2,600

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 9 of 10 coding exons well covered in gnomAD exomes; exon 6 marginal. Genomes: all 10.? see exons ↓