Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL gene1 |
 |
2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 0.19 |
| DLBCL | Schmitz cohort | 1.06 |
| DLBCL | Reddy cohort | 1.40 |
| DLBCL | Chapuy cohort | 0.43 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 0 | 0 |
| DLBCL | Yes | No | 0 | 0 |
| FL | Yes | No | 0 | 0 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr20 | 49120482 | 49140477 | TSS | active_promoter |
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Expression
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References
1.
Gunawardana J, Chan FC, Telenius A, Woolcock B,
Kridel R, Tan KL, Ben-Neriah S, Mottok A, Lim RS, Boyle M, Rogic S,
Rimsza LM, Guiter C, Leroy K, Gaulard P, Haioun C, Marra MA, Savage KJ,
Connors JM, Shah SP, Gascoyne RD, Steidl C. Recurrent somatic mutations of
PTPN1 in primary mediastinal B cell lymphoma
and Hodgkin lymphoma. Nat Genet. 2014
Apr;46(4):329–335.
