UBASH3B

Chr 11

ubiquitin associated and SH3 domain containing B

Also known as: STS-1, STS1, TULA-2, TULA2, p70

NCBI Gene: 84959 ENSG00000154127 UniProt: Q8TF42

This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor. [provided by RefSeq, Jul 2008]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.60

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.60LOEUF

pLI 0.000

Z-score 3.47

OE 0.38 (0.25–0.60)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.99Z-score

OE missense 0.71 (0.64–0.79)

263 obs / 371.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.38 (0.25–0.60)

0≤0.351.4

Missense OE?0.71 (0.64–0.79)

0≤0.61.4

Synonymous OE?0.86

0≤1.21.6

LoF obs/exp: 14 / 36.6Missense obs/exp: 263 / 371.0Syn Z: 1.38

Background carrier burden — how many people carry a rare variant somewhere in UBASH3B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 96

707 rare PASS variants

Rare truncating (LoF)

1 in 3,600

79 rare PASS variants

Rare synonymous (reference)

1 in 130

330 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for UBASH3B. 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 160	1 in 3,900
South Asian	~43k	1 in 69	1 in 2,300
Remaining (unassigned)	~30k	1 in 87	1 in 1,000
European (Finnish)	~27k	1 in 300	1 in 4,400
Admixed American	~22k	1 in 58	1 in 3,700
African / African American	~21k	1 in 99	1 in 2,800
East Asian	~20k	1 in 100	1 in 1,100
Ashkenazi Jewish	~13k	1 in 410	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 70	none seen

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): All 14 coding exons well covered in gnomAD exomes and genomes.? see exons ↓