Table of Contents
Experimental Evidence
Driver mutations affecting this gene in FL/DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).1
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2 | Role of TBL1XR1 mutations in BL requires confirmation |
 |
1 | High-confidence DLBCL gene |
 |
1 | High-confidence FL gene |
 |
1 | High-confidence MZL gene |
 |
2 | Role of TBL1XR1 mutations in PMBL requires confirmation |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 111 | 0.1019 | [0.084,0.1199] |
| DLBCL | GAMBL with Reddy | 2,088 | 168 | 0.0805 | [0.0688,0.0921] |
| DLBCL | BC | 231 | 21 | 0.0909 | [0.0538,0.128] |
| DLBCL | Dana-Farber | 303 | 21 | 0.0693 | [0.0407,0.0979] |
| DLBCL | NCI | 470 | 60 | 0.1277 | [0.0975,0.1578] |
| DLBCL | Reddy | 999 | 57 | 0.0571 | [0.0427,0.0714] |
| DLBCL | DLBCL_ICGC | 85 | 9 | 0.1059 | [0.0405,0.1713] |
FL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| FL | GAMBL without Crouch | 642 | 22 | 0.0343 | [0.0202,0.0483] |
| FL | GAMBL with Crouch | 1,189 | 57 | 0.0479 | [0.0358,0.0601] |
| FL | BC | 379 | 14 | 0.0369 | [0.018,0.0559] |
| FL | Kalmbach | 164 | 5 | 0.0305 | [0.0042,0.0568] |
| FL | Crouch | 547 | 35 | 0.0640 | [0.0435,0.0845] |
| FL | FL_ICGC | 99 | 3 | 0.0303 | [0,0.0641] |
BL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| BL | GAMBL without Panea | 309 | 17 | 0.0521 | [0.0273,0.0768] |
| BL | GAMBL without ICGC/Zhou | 320 | 18 | 0.0529 | [0.0284,0.0774] |
| BL | GAMBL with Panea | 410 | 25 | 0.0570 | [0.0346,0.0794] |
| BL | BLGSP | 219 | 10 | 0.0457 | [0.018,0.0733] |
| BL | Zhou/ICGC | 90 | 7 | 0.0778 | [0.0224,0.1331] |
| BL | Panea | 101 | 8 | 0.0792 | [0.0265,0.1319] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 19.8314 | 50.4984 | 0.000 |
| FL | 18.5887 | 23.0498 | 0.001 |
| DLBCL | 24.4133 | 23.8433 | 0.000 |
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 |
Visualizations
Protein
View coding variants in ProteinPaint hg19 or hg38
Genome
View all variants in GenomePaint hg19 or hg38
Expression
History
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2012-03-06 : Lohr : DLBCL
2012-08-27 : Rossi : MZL
2013-08-15 : Morin : DLBCL
2016-03-01 : Mareschal : DLBCL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-05-01 : Chapuy : DLBCL
2018-10-01 : Arthur : DLBCL
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