---
bibliography: 'morinlab.bib'
csl: 'NLM.csl'
link-citations: true
nocite: |
  @wienandGenomicAnalysesFlowsorted2019, @lakeMutationsNFKBIAEncoding2009, @russler-germainMutationsAssociatedProgression2023, 
---
[[_TOC_]]

## Overview
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.[@wienandGenomicAnalysesFlowsorted2019]


## Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@jungnickelClonalDeleteriousMutations2000]

## Relevance tier by entity

[[include:tables/table1_NFKBIA.md]]

## Mutation incidence in large patient cohorts (GAMBL reanalysis)

### DLBCL
[[include:tables/DLBCL_NFKBIA.md]]

### FL
[[include:tables/FL_NFKBIA.md]]

## Mutation pattern and selective pressure estimates

[[include:tables/dnds_NFKBIA.md]]

[[include:tables/browser_NFKBIA.md]]

## Expression
![](images/gene_expression/NFKBIA_by_pathology.svg)


<!-- ORIGIN: lakeMutationsNFKBIAEncoding2009 -->
<!-- DLBCL: lakeMutationsNFKBIAEncoding2009 -->
<!-- FL: russler-germainMutationsAssociatedProgression2023b -->
<!-- PMBL: wienandGenomicAnalysesFlowsorted2019b -->

[[include:tables/mermaid_NFKBIA.md]]

## References