AIF1

Chr 6

allograft inflammatory factor 1

Also known as: AIF-1, IBA1, IRT-1, IRT1

This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…
0
Active trials
79
Pubs (1 yr)
P/LP submissions
P/LP missense
1.62
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.62LOEUF
pLI 0.000
Z-score 0.15
OE 0.95 (0.571.62)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.22Z-score
OE missense 0.93 (0.771.13)
72 obs / 77.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.95 (0.571.62)
00.351.4
Missense OE?0.93 (0.771.13)
00.61.4
Synonymous OE?0.62
01.21.6
LoF obs/exp: 9 / 9.5Missense obs/exp: 72 / 77.3Syn Z: 1.71

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

AIF1 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →