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 |
![PMBL](https://github.com/morinlab/LLMPP/wiki/images/icons/PMBL_tier2.png) |
2 |
relevance in PMBL/cHL/GZL not firmly established |
![BL](https://github.com/morinlab/LLMPP/wiki/images/icons/BL_tier2.png) |
1 |
high-confidence BL gene[@schmitzBurkittLymphomaPathogenesis2012] |
![DLBCL](https://github.com/morinlab/LLMPP/wiki/images/icons/DLBCL_tier1.png) |
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
![](https://github.com/morinlab/LLMPP/wiki/images/proteinpaint/PCBP1_NM_006196.svg)
View all variants in GenomePaint hg19 or hg38
![](https://github.com/morinlab/LLMPP/wiki/images/proteinpaint/PCBP1.svg)
PCBP1 Expression
![](https://github.com/morinlab/LLMPP/wiki/images/gene_expression/PCBP1_by_pathology.svg)
References