IRF1

Chr 5

interferon regulatory factor 1

Also known as: IMD117, IRF-1, MAR

The protein encoded by this gene is a transcriptional regulator and tumor suppressor, serving as an activator of genes involved in both innate and acquired immune responses. The encoded protein activates the transcription of genes involved in the body's response to viruses and bacteria, playing a role in cell proliferation, apoptosis, the immune response, and DNA damage response. This protein represses the transcription of several other genes. As a tumor suppressor, it both suppresses tumor cell growth and stimulates an immune response against tumor cells. Defects in this gene have been associated with gastric cancer, myelogenous leukemia, and lung cancer. [provided by RefSeq, Aug 2017]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtGastric cancer
UniProtImmunodeficiency 117

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
353
Pubs (1 yr)
P/LP submissions
P/LP missense
0.26
LOEUF· LoF intol.
LOF
Mechanism· predicted
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GeneReview available — IRF1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.26LOEUF
pLI 0.991
Z-score 3.77
OE 0.05 (0.020.26)
Highly constrained

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

Missense Constraint?
2.35Z-score
OE missense 0.51 (0.430.60)
92 obs / 181.1 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.05 (0.020.26)
00.351.4
Missense OE?0.51 (0.430.60)
00.61.4
Synonymous OE?0.91
01.21.6
LoF obs/exp: 1 / 18.5Missense obs/exp: 92 / 181.1Syn Z: 0.61

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

IRF1 · 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 →