SPEN - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
SPEN
History
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2012-08-27 : Rossi : MZL
2017-05-01 : Albuquerque : DLBCL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-05-01 : Chapuy : DLBCL
2018-10-01 : Arthur : DLBCL
2021-04-01 : Sarkozy : PMBL
2021-05-05 : Hubschmann : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence MZL gene[@rossiCodingGenomeSplenic2012c] |
 |
1 | high-confidence PMBL/cHL/GZL gene[@sarkozyMutationalLandscapeGray2021a] |
 |
1 | high-confidence DLBCL gene[@albuquerqueEnhancingKnowledgeDiscovery2017a; @reddyGeneticFunctionalDrivers2017; @schmitzGeneticsPathogenesisDiffuse2018a] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 4.78 |
| DLBCL | Schmitz cohort | 10.00 |
| DLBCL | Reddy cohort | 7.41 |
| DLBCL | Chapuy cohort | 9.83 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.456 | 0.000 |
| DLBCL | No | No | 0.900 | 13.083 |
| FL | No | No | 1.765 | 25.228 |
SPEN Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr1 | 16256846 | C>T | R1371* |
| chr1 | 16261814 | C>T | R3027* |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
SPEN Expression
