ASB17

Chr 1

ankyrin repeat and SOCS box containing 17

Also known as: Asb-17

NCBI Gene: 127247 ENSG00000154007 UniProt: Q8WXJ9 OMIM: 619936

ASB17 encodes a substrate-recognition component of an E3 ubiquitin-protein ligase complex that mediates proteasomal degradation of target proteins. The gene is highly constrained against loss-of-function variants (pLI = 1.0), but no established human disease associations have been reported for ASB17 mutations.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in intracellular signal transduction and protein ubiquitination. Predicted to act upstream of or within protein polyubiquitination. Predicted to be located in cytosol. Predicted to be active in apical ectoplasmic specialization. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.51

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.51LOEUF

pLI 0.000

Z-score 0.38

OE 0.87 (0.53–1.51)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.12Z-score

OE missense 1.03 (0.90–1.17)

154 obs / 150.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.87 (0.53–1.51)

0≤0.351.4

Missense OE?1.03 (0.90–1.17)

0≤0.61.4

Synonymous OE?0.98

0≤1.21.6

LoF obs/exp: 9 / 10.3Missense obs/exp: 154 / 150.0Syn Z: 0.13

Background carrier burden — how many people carry a rare variant somewhere in ASB17?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 270

349 rare PASS variants

Rare truncating (LoF)

1 in 1,200

56 rare PASS variants

Rare synonymous (reference)

1 in 640

134 rare PASS variants

Rare missense and truncating variants are carried at similar rates in ASB17; this gene does not show strong loss-of-function constraint by this measure. 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 440	1 in 2,400
South Asian	~43k	1 in 170	1 in 1,400
Remaining (unassigned)	~30k	1 in 180	1 in 1,000
European (Finnish)	~27k	1 in 500	1 in 1,500
Admixed American	~22k	1 in 190	≈ 1 in 4,500
African / African American	~21k	1 in 200	1 in 1,900
East Asian	~20k	1 in 320	1 in 3,300
Ashkenazi Jewish	~13k	1 in 2,600	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 220	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 3 coding exons well covered in gnomAD exomes and genomes.? see exons ↓