XPO1
History
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timeline
title Publication timing
2016-03-01 : Mareschal : DLBCL
2016-06-01 : Jardin : PMBL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | high-confidence PMBL/cHL/GZL genejardinRecurrentMutationsExportin2016a? | |
| 1 | high-confidence DLBCL gene1 |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 3.82 |
| DLBCL | Schmitz cohort | 2.34 |
| DLBCL | Reddy cohort | 1.40 |
| DLBCL | Chapuy cohort | 1.28 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.028 | 0 |
| DLBCL | No | No | 9.927 | 0 |
| FL | No | No | 0.000 | 0 |
XPO1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr2 | 61719471 | T>C | E571G |
| chr2 | 61719472 | C>T | E571K |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
XPO1 Expression
References
1.
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.


