NFKBIZ - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @arthurGenomewideDiscoverySomatic2018, @morinGeneticLandscapesRelapsed2016,
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 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]
Experimental Evidence
Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a gain of function (GOF).[@arthurGenomewideDiscoverySomatic2018]
Relevance tier by entity
include:tables/table1_NFKBIZ.md
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
include:tables/DLBCL_NFKBIZ.md
Mutation pattern and selective pressure estimates
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr3 | 101546669 | 101547704 | TSS-1 | active_promoter |
| chr3 | 101568239 | 101569274 | TSS-2 | active_promoter |
include:tables/browser_NFKBIZ.md
Expression
include:tables/mermaid_NFKBIZ.md