ASB8

Chr 12

ankyrin repeat and SOCS box containing 8

Also known as: PP14212

NCBI Gene: 140461ENSG00000177981UniProt: Q9H765OMIM: 615053

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]

OMIMResearchGenerating clinical summary…
1
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.33
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.33LOEUF
pLI 0.000
Z-score 0.80
OE 0.74 (0.43–1.33)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.31Z-score
OE missense 0.71 (0.61–0.83)
118 obs / 165.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.74 (0.43–1.33)
0≤0.351.4
Missense OE?0.71 (0.61–0.83)
0≤0.61.4
Synonymous OE?0.85
0≤1.21.6
LoF obs/exp: 8 / 10.9Missense obs/exp: 118 / 165.2Syn Z: 0.97

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ASB8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

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