NFKBIL1

Chr 6

NFKB inhibitor like 1

Also known as: IKBL, NFKBIL

NCBI Gene: 4795ENSG00000204498UniProt: Q9UBC1

This gene encodes a divergent member of the I-kappa-B family of proteins. Its function has not been determined. The gene lies within the major histocompatibility complex (MHC) class I region on chromosome 6. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRheumatoid arthritis

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
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.58
LOEUF
GOF
Mechanism· predicted
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?
0.58LOEUF
pLI 0.026
Z-score 3.05
OE 0.31 (0.17–0.58)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.29Z-score
OE missense 0.57 (0.49–0.66)
127 obs / 223.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.31 (0.17–0.58)
0≤0.351.4
Missense OE?0.57 (0.49–0.66)
0≤0.61.4
Synonymous OE?0.68
0≤1.21.6
LoF obs/exp: 7 / 22.7Missense obs/exp: 127 / 223.2Syn Z: 2.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NFKBIL1 · 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