NFKBIA
NFKBIA encodes IκBα, an inhibitor of NF-κB, which regulates the NF-κB signaling pathway by preventing the translocation of NF-κB to the nucleus. Mutations in NFKBIA can disrupt this regulation, leading to constitutive activation of NF-κB signaling, which has an important role in a subset of DLBCLs. Mutations and deletions in NFKBIA are observed in DLBCL and are associated with constitutive activation of the NF-κB pathway. These mutations often occur in the ABC subtype and are associated with the ST2 genetic subgroup of DLBCL.1
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timeline
title Publication timing
2009-09-15 : Lake : DLBCL
2019-12-10 : Wienand : PMBL
2023-07-26 : Russler-Germain : FL
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL gene[@wienandGenomicAnalysesFlowsorted2019b] |
 |
1 | high-confidence DLBCL gene [@lakeMutationsNFKBIAEncoding2009] |
 |
2 | relevance in FL not firmly established[@russler-germainMutationsAssociatedProgression2023b] |
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 4.40 |
| DLBCL | Schmitz cohort | 3.83 |
| DLBCL | Reddy cohort | 3.60 |
| DLBCL | Chapuy cohort | 4.70 |
| FL | GAMBL genomes | 0.69 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 3.358 | 17.442 |
| DLBCL | No | Yes | 9.385 | 40.878 |
| FL | No | No | 0.000 | 28.519 |
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