TBL1XR1 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @lohrDiscoveryPrioritizationSomatic2012, @rossiCodingGenomeSplenic2012, @morinMutationalStructuralAnalysis2013,
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
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
include:tables/mermaid_TBL1XR1.md