ILRUN

Chr 6

inflammation and lipid regulator with UBA-like and NBR1-like domains

Also known as: C6orf106, FP852, dJ391O22.4

NCBI Gene: 64771ENSG00000196821UniProt: Q9H6K1

This gene encodes a protein with N-terminal ubiquitin-associated (UBA)-like and central neighbor of BRCA1 gene 1 (NBR1)-like domains. The protein acts an inhibitor of antiviral and proinflammatory cytokine transcription and as a regulator of the renin-angiotensin-aldosterone system (RAAS). [provided by RefSeq, Jul 2021]

ResearchGenerating clinical summary…

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
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.42
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.42LOEUF
pLI 0.851
Z-score 3.12
OE 0.13 (0.05–0.42)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
3.00Z-score
OE missense 0.35 (0.29–0.44)
60 obs / 169.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.13 (0.05–0.42)
0≤0.351.4
Missense OE?0.35 (0.29–0.44)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 2 / 15.0Missense obs/exp: 60 / 169.9Syn Z: -0.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ILRUN · 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