IVNS1ABP

Chr 1AD

influenza virus NS1A binding protein

Also known as: ARA3, FLARA3, HSPC068, IMD70, KLHL39, ND1, NS-1, NS1-BP

NCBI Gene: 10625ENSG00000116679UniProt: Q9Y6Y0OMIM: 609209

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Involved in RNA splicing; negative regulation of protein ubiquitination; and response to virus. Located in cytosol. Implicated in immunodeficiency 70. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Immunodeficiency 70MIM #618969
AD

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.28
LOEUF· LoF intol.
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.28LOEUF
pLI 0.994
Z-score 4.91
OE 0.13 (0.07–0.28)
Highly constrained

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

Missense Constraint?
2.89Z-score
OE missense 0.56 (0.50–0.63)
192 obs / 342.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.13 (0.07–0.28)
0≤0.351.4
Missense OE?0.56 (0.50–0.63)
0≤0.61.4
Synonymous OE?0.77
0≤1.21.6
LoF obs/exp: 5 / 37.5Missense obs/exp: 192 / 342.2Syn Z: 1.93

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

IVNS1ABP · 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 →

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