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

## Overview
Somatic mutations in FBXO11 are common in BL[@richterRecurrentMutationID32012] and appear in a small number of DLBCLs.[@hubschmannMutationalMechanismsShaping2021]
This gene has some recurrent sites of mutations (hot spots). Mutations lead to stabilization of BCL6, an important transcriptional repressor involved in lymphomagenesis.
These mutations present a potential novel target for therapeutic intervention, particularly through strategies aimed at degrading BCL6 or inhibiting its function.


## Relevance tier by entity

|Entity|Tier|Description               |
|:------:|:----:|--------------------------|
|![MZL](images/icons/MZL_tier2.png)|2|relevance in MZL not firmly established[@parryWholeExomeSequencing2013]|
|![BL](images/icons/BL_tier1.png)    |1   |high-confidence BL gene   [@richterRecurrentMutationID32012]|
|![DLBCL](images/icons/DLBCL_tier1.png) |1   |high-confidence DLBCL gene[@hubschmannMutationalMechanismsShaping2021; @arthurGenomewideDiscoverySomatic2018]|

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

[[include:DLBCL_FBXO11.md]]
[[include:BL_FBXO11.md]]

## Mutation pattern and selective pressure estimates

[[include:dnds_FBXO11.md]]

## FBXO11 hot spots
|Chromosome|Coordinate|Mutation|HGVSp|
|:-:|:-:|:-:|:-:|
|chr2|48040426|T>A|N725I| 
|chr2|48040427|T>C|N725D| 
|chr2|48040427|T>G|N725H| 
|chr2|48040427|T>A|N725Y| 
|chr2|48040488|TA>GC|I704S| 
|chr2|48040489|A>C|I704R| 
|chr2|48040495|T>A|N702I| 
|chr2|48040495|T>C|N702S| 
|chr2|48040496|T>C|N702D| 
|chr2|48040496|T>A|N702Y| 
|chr2|48040500|T>A|E700D| 
|chr2|48040500|T>G|E700D| 
|chr2|48040501|T>A|E700V| 
|chr2|48040510|C>T|G697D| 
|chr2|48040511|C>G|G697R| 


[[include:browser_FBXO11.md]]

## Expression
![](images/gene_expression/FBXO11_by_pathology.svg)

[[include:mermaid_FBXO11.md]]

## References
<!-- ORIGIN: parryWholeExomeSequencing2013 -->
<!-- BL: richterRecurrentMutationID32012a -->
<!-- MZL: parryWholeExomeSequencing2013 -->
<!-- DLBCL: hubschmannMutationalMechanismsShaping2021b -->