S1PR2
Overview
S1PR2 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. ## History
| Entity | Tier | Description |
|---|---|---|
| 1 | high-confidence PMBL/cHL/GZL gene | |
| 2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous | |
| 1-a | aSHM target and high-confidence DLBCL gene | |
| 1-a | aSHM target and high-confidence FL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 1.15 |
| BL | Thomas cohort | 0.00 |
| BL | Panea cohort | 4.00 |
| DLBCL | GAMBL genomes | 4.78 |
| DLBCL | Schmitz cohort | 2.13 |
| DLBCL | Reddy cohort | 2.20 |
| DLBCL | Chapuy cohort | 2.56 |
| FL | GAMBL genomes | 6.24 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 0.000 | 0.000 |
| DLBCL | Yes | Yes | 34.147 | 0.000 |
| FL | Yes | Yes | 36.780 | 339.679 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr19 | 10340142 | 10341764 | TSS | active_promoter |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## S1PR2
Expression
## References
1. Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD,
Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott
DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan
S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S,
Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B,
Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse
K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones
SJM, Connors JM, Hirst M, Gascoyne RD, Marra MA. Frequent mutation of
histone-modifying genes in non-Hodgkin lymphoma. Nature. 2011 Jul
27;476(7360):298–303. PMCID: PMC3210554 2. Muppidi J, Schmitz R, Green
JA, Green JA, Xiao W, Larsen AB, Braun S, An J, Xu Y, Rosenwald A, Ott
G, Gascoyne R, Rimsza L, Campo E, Jaffe E, Delabie J, Smeland E, Braziel
R, Tubbs R, Cook J, Weisenburger D, Chan W, Vaidehi N, Staudt L, Cyster
J. Loss of signaling via Gα13 in germinal center B cell-derived
lymphoma. Nature. 2014;516:254–258.


