TBL1XR1
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timeline
title Publication timing
2012-08-27 : Rossi : MZL
2016-03-01 : Mareschal : DLBCL
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence MZL gene |
 |
1 | high-confidence PMBL/cHL/GZL gene |
 |
1 | high-confidence DLBCL gene |
 |
1 | high-confidence FL gene |
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 8.60 |
| DLBCL | Schmitz cohort | 12.77 |
| DLBCL | Reddy cohort | 5.71 |
| DLBCL | Chapuy cohort | 8.12 |
| FL | GAMBL genomes | 3.93 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | Yes | 17.892 | 29.577 |
| DLBCL | No | Yes | 24.811 | 24.179 |
| FL | No | No | 12.400 | 18.940 |
Note
First described in DLBCL in 2016 by Mareschal S
| 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 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
- Rossi D, Trifonov V, Fangazio M, Bruscaggin A, Rasi S, Spina V, Monti S, Vaisitti T, Arruga F, Famà R, Ciardullo C, Greco M, Cresta S, Piranda D, Holmes A, Fabbri G, Messina M, Rinaldi A, Wang J, Agostinelli C, Piccaluga PP, Lucioni M, Tabbò F, Serra R, Franceschetti S, Deambrogi C, Daniele G, Gattei V, Marasca R, Facchetti F, Arcaini L, Inghirami G, Bertoni F, Pileri SA, Deaglio S, Foà R, Dalla-Favera R, Pasqualucci L, Rabadan R, Gaidano G. The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development. J Exp Med. 2012 Aug 27;209(9):1537–1551. PMCID: PMC3428941
- Mareschal S, Dubois S, Viailly PJ, Bertrand P, Bohers E, Maingonnat C, Jaïs JP, Tesson B, Ruminy P, Peyrouze P, Copie-Bergman C, Fest T, Jo Molina T, Haioun C, Salles G, Tilly H, Lecroq T, Leroy K, Jardin F. Whole exome sequencing of relapsed/refractory patients expands the repertoire of somatic mutations in diffuse large B-cell lymphoma. Genes Chromosomes Cancer. 2016 Mar;55(3):251–267. PMID: 26608593
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