ASB7

Chr 15

ankyrin repeat and SOCS box containing 7

ASB7 encodes a substrate-recognition component of an E3 ubiquitin ligase complex that targets specific proteins for degradation, regulating chromatin modifications and cell cycle progression. The gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.28), but no established Mendelian disorders have been definitively linked to ASB7 mutations in current clinical practice.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.28
Clinical SummaryASB7
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.98). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Dual constrained — LoF & missense intolerant
LoF Constraint
0.28LOEUF
pLI 0.984
Z-score 3.59
OE 0.06 (0.020.28)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
3.27Z-score
OE missense 0.33 (0.270.41)
64 obs / 191.4 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.06 (0.020.28)
00.351.4
Missense OE0.33 (0.270.41)
00.61.4
Synonymous OE1.10
01.21.6
LoF obs/exp: 1 / 17.0Missense obs/exp: 64 / 191.4Syn Z: -0.66

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ASB7 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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