---
bibliography: 'morinlab.bib'
csl: 'NLM.csl'
link-citations: true
nocite: |
  @lohrDiscoveryPrioritizationSomatic2012, @rossiCodingGenomeSplenic2012, @morinMutationalStructuralAnalysis2013, 
---
[[_TOC_]]


## Experimental Evidence

Driver mutations affecting this gene in FL/DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@venturuttiTBL1XR1MutationsDrive2020]

## Relevance tier by entity

[[include:tables/table1_TBL1XR1.md]]

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

### DLBCL
[[include:tables/DLBCL_TBL1XR1.md]]

### FL
[[include:tables/FL_TBL1XR1.md]]

## Mutation pattern and selective pressure estimates

[[include:tables/dnds_TBL1XR1.md]]

## TBL1XR1 Hotspots

| Chromosome |Coordinate (hg19) | ref>alt | HGVSp | 
 | :---:| :---: | :--: | :---: |
| chr3 | 176752066 | A>C | H390Q |
| chr3 | 176752053 | A>T | Y395N |
| chr3 | 176752053 | A>C | Y395D |
| chr3 | 176752052 | T>C | Y395C |
| chr3 | 176750839 | A>G | Y446H |
| chr3 | 176750838 | T>G | Y446S |
| chr3 | 176750838 | T>C | Y446C |
| chr3 | 176750836 | T>G | S447R |

[[include:tables/browser_TBL1XR1.md]]

## Expression
![](images/gene_expression/TBL1XR1_by_pathology.svg)
<!-- ORIGIN: rossiCodingGenomeSplenic2012c -->
<!-- MZL: rossiCodingGenomeSplenic2012c -->
<!-- DLBCL: mareschalWholeExomeSequencing2016 -->

[[include:tables/mermaid_TBL1XR1.md]]

## References