ABI1

Chr 10

abl interactor 1

Also known as: ABI-1, ABLBP4, E3B1, NAP1BP, SSH3BP, SSH3BP1

NCBI Gene: 10006ENSG00000136754UniProt: Q8IZP0

ABI1 encodes an adaptor protein that regulates actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases, and participates in signal transduction from Ras to Rac while regulating dendritic outgrowth and synaptic development in neurons. Mutations cause autosomal recessive neurodevelopmental disorder with seizures, spastic diplegia, and cerebral atrophy, typically presenting in early childhood. The gene is highly constrained against loss-of-function variants (LOEUF 0.418), suggesting intolerance to complete protein loss.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
19
Pubs (1 yr)
11
P/LP submissions
0%
P/LP missense
0.42
LOEUF
LOF
Mechanism· predicted
Clinical Summary— ABI1
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.64) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
11 unique Pathogenic / Likely Pathogenic· 44 VUS of 92 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.42LOEUF
pLI 0.639
Z-score 3.72
OE 0.20 (0.10–0.42)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.09Z-score
OE missense 0.65 (0.57–0.73)
182 obs / 280.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.20 (0.10–0.42)
0≤0.351.4
Missense OE0.65 (0.57–0.73)
0≤0.61.4
Synonymous OE1.03
0≤1.21.6
LoF obs/exp: 5 / 25.1Missense obs/exp: 182 / 280.8Syn Z: -0.20
DN
0.5576th %ile
GOF
0.6249th %ile
LOF
0.65top 25%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.42

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

92 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic1
VUS44
Likely Benign5
Benign2
10
Pathogenic
1
Likely Pathogenic
44
VUS
5
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
1
0
1
VUS
0
39
5
0
44
Likely Benign
0
1
3
1
5
Benign
0
0
1
1
2
Total04020262

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

View in ClinVar →

Protein Context — Lollipop Plot

ABI1 · 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
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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 5 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