PCBP1 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
PCBP1
History
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timeline
title Publication timing
2012-10-04 : Schmitz : BL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in PMBL/cHL/GZL not firmly established |
 |
1 | high-confidence BL gene[@schmitzBurkittLymphomaPathogenesis2012] |
 |
1 | high-confidence DLBCL gene[@schmitzBurkittLymphomaPathogenesis2012] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 12.24 |
| BL | Thomas cohort | 12.30 |
| BL | Panea cohort | 11.90 |
| DLBCL | GAMBL genomes | 1.34 |
| DLBCL | Schmitz cohort | 2.34 |
| DLBCL | Reddy cohort | 2.40 |
| DLBCL | Chapuy cohort | 1.71 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | Yes | 16.780 | 424.685 |
| DLBCL | No | No | 0.000 | 0.000 |
| FL | No | No | 1.401 | 0.000 |
PCBP1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr2 | 70315424 | C>G | Y183* |
| chr2 | 70315425 | C>T | Q184* |
| chr2 | 70315439 | ->AGCT | S190* |
| chr2 | 70315457 | C>A | C194* |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
PCBP1 Expression
