S1PR2
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.
| 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 |
| 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 |
| 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 |
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr19 | 10340142 | 10341764 | TSS | active_promoter |
Note
First described in BL in 2014 by Muppidi JR
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
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