ASB1

Chr 2

ankyrin repeat and SOCS box containing 1

Also known as: ASB-1

NCBI Gene: 51665ENSG00000065802UniProt: Q9Y576

The ASB1 protein functions as a substrate-recognition component of an E3 ubiquitin ligase complex that targets specific proteins for degradation, including transcription factors and signaling molecules involved in cell growth and development. The gene shows low constraint against loss-of-function variants (pLI 0.003, LOEUF 0.94), and no established human disease associations have been reported in major clinical databases. ASB1 variants are not currently recognized as a cause of pediatric neurological disorders.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
5
Pubs (1 yr)
84
P/LP submissions
0%
P/LP missense
0.94
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— ASB1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
82 unique Pathogenic / Likely Pathogenic· 49 VUS of 143 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.94LOEUF
pLI 0.003
Z-score 1.72
OE 0.48 (0.26–0.94)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.27Z-score
OE missense 0.75 (0.66–0.86)
160 obs / 211.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.48 (0.26–0.94)
0≤0.351.4
Missense OE0.75 (0.66–0.86)
0≤0.61.4
Synonymous OE1.06
0≤1.21.6
LoF obs/exp: 6 / 12.6Missense obs/exp: 160 / 211.9Syn Z: -0.43
DN
0.6647th %ile
GOF
0.72top 25%
LOF
0.2775th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

143 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic80
Likely Pathogenic2
VUS49
Likely Benign3
80
Pathogenic
2
Likely Pathogenic
49
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
80
0
80
Likely Pathogenic
0
0
2
0
2
VUS
0
45
4
0
49
Likely Benign
0
2
0
1
3
Benign
0
0
0
0
0
Total047861134

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ASB1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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