NFKBIE - morinlab/LLMPP GitHub Wiki
NFKBIE encodes IκBε, a negative regulator of NF-κB. Mutations in NFKBIE can disrupt this regulatory function, leading to constitutive activation of NF-κB signaling.1 Mutations are relatively common in DLBCL and MCL.2
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timeline
title Publication timing
2016-05-01 : Morin : DLBCL
2016-12-08 : Mansouri : PMBL
2020-07-30 : Pararajalingam : MCL
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL gene[@mansouriFrequentNFKBIEDeletions2016] |
 |
1 | high-confidence DLBCL gene[@morinGeneticLandscapesRelapsed2016] |
 |
1 | high-confidence MCL gene [@pararajalingamCodingNoncodingDrivers2020] |
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 3.82 |
| DLBCL | Schmitz cohort | 5.74 |
| DLBCL | Reddy cohort | 2.90 |
| DLBCL | Chapuy cohort | 3.42 |
| MCL | GAMBL genomes | 2.84 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 2.702 | 0.000 |
| DLBCL | No | Yes | 8.732 | 58.269 |
| FL | No | No | 0.000 | 46.628 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
