NFKBIZ
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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]
| Entity | Tier | Description |
|---|---|---|
 |
1 | aSHM target and high-confidence DLBCL gene[@morinGeneticLandscapesRelapsed2016] |
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr3 | 101546669 | 101547704 | TSS-1 | active_promoter |
| chr3 | 101568239 | 101569274 | TSS-2 | active_promoter |
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