EZR - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
EZR
History
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timeline
title Publication timing
2019-08-20 : Desch : PMBL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in PMBL/cHL/GZL not firmly established[@deschGenotypingCirculatingTumor2020] |
 |
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 | 1.34 |
| DLBCL | Schmitz cohort | 2.13 |
| DLBCL | Reddy cohort | 1.70 |
| DLBCL | Chapuy cohort | 2.56 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 1.425 | 16.138 |
| DLBCL | Yes | No | 2.869 | 14.423 |
| FL | Yes | No | 3.576 | 0.000 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr6 | 159237903 | 159240216 | TSS | NA |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
EZR Expression
