TBL1XR1

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

Relevance tier by entity

Entity	Tier	Description
	1	high-confidence MZL gene^{rossiCodingGenomeSplenic2012c?}
	1	high-confidence PMBL/cHL/GZL gene
	1	high-confidence DLBCL gene^{1,lohrDiscoveryPrioritizationSomatic2012a?}
	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

Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

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