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
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timeline
title Publication timing
2011-07-27 : Morin : DLBCL
2014-12-11 : Muppidi : BL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | high-confidence PMBL/cHL/GZL gene | |
| 2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuousmuppidiLossSignalingGa132014b? | |
| 1-a | aSHM target and high-confidence DLBCL gene1 | |
| 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

