TBL1XR1

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2012-08-27 : Rossi : MZL 2016-03-01 : Mareschal : DLBCL

Relevance tier by entity

Entity Tier Description
MZL 1 high-confidence MZL gene
PMBL 1 high-confidence PMBL/cHL/GZL gene
DLBCL 1 high-confidence DLBCL gene
FL 1 high-confidence FL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

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

Mutation pattern and selective pressure estimates

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

## 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

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

TBL1XR1 Expression

References

  1. 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
  2. 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