XPO1

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2016-03-01 : Mareschal : DLBCL 2016-06-01 : Jardin : PMBL

Relevance tier by entity

Entity Tier Description
PMBL 1 high-confidence PMBL/cHL/GZL genejardinRecurrentMutationsExportin2016a?
DLBCL 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.