---
bibliography: 'morinlab.bib'
csl: 'NLM.csl'
link-citations: true
---
[[_TOC_]]

## Overview
The NFKBIZ gene is a significant player in NF-κB signaling, with mutations leading to its deregulation. This pathway is critical in the pathogenesis of ABC DLBCL. NFKBIZ is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. The predominant cluster of mutations in NFKBIZ is in the 3' UTR and not a consequence of aSHM. NFKBIZ 3' UTR mutations confer a selective growth advantage in DLBCL cells by stabilizing NFKBIZ mRNA, resulting in increased protein levels.[@arthurGenomewideDiscoverySomatic2018] 


## Relevance tier by entity

|Entity|Tier|Description               |
|:------:|:----:|--------------------------|
|![DLBCL](images/icons/DLBCL_tier1.png) |1 | aSHM target and high-confidence DLBCL gene[@morinGeneticLandscapesRelapsed2016]|

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

[[include:DLBCL_NFKBIZ.md]]

## Mutation pattern and selective pressure estimates

[[include:dnds_NFKBIZ.md]]

## aSHM regions

|chr_name|hg19_start|hg19_end |region                                                                                       |regulatory_comment|
|:--------:|:----------:|:---------:|:---------------------------------------------------------------------------------------------:|:------------------:|
|chr3    |101546669 |101547704|[TSS-1](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr3%3A101546669%2D101547704)|active_promoter   |
|chr3    |101568239 |101569274|[TSS-2](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr3%3A101568239%2D101569274)|active_promoter   |


[[include:browser_NFKBIZ.md]]

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

[[include:mermaid_NFKBIZ.md]]

## References


<!-- NONCODING -->
<!-- ORIGIN: morinGeneticLandscapesRelapsed2016 -->
<!-- DLBCL: morinGeneticLandscapesRelapsed2016 -->