ASB8

Chr 12

ankyrin repeat and SOCS box containing 8

Also known as: PP14212

NCBI Gene: 140461 ENSG00000177981 UniProt: Q9H765

Predicted to be involved in intracellular signal transduction and protein ubiquitination. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

Research

Predicted to be involved in intracellular signal transduction and protein ubiquitination. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in ASB8?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 180

354 rare PASS variants

Rare truncating (LoF)

1 in 830

76 rare PASS variants

Rare synonymous (reference)

1 in 300

148 rare PASS variants

Rare missense and truncating variants are carried at similar rates in ASB8; 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 300	1 in 870
South Asian	~43k	1 in 200	1 in 650
Remaining (unassigned)	~30k	1 in 130	1 in 1,100
European (Finnish)	~27k	1 in 200	1 in 1,700
Admixed American	~22k	1 in 170	1 in 1,400
African / African American	~21k	1 in 160	1 in 1,800
East Asian	~20k	1 in 170	1 in 2,800
Ashkenazi Jewish	~13k	1 in 880	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 150	≈ 1 in 960

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 ↓