Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | High-confidence BL gene |
 |
2 | Role of PCBP1 mutations in PMBL requires confirmation |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
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BL
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Mutation pattern and selective pressure estimates
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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* |
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Expression
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References
1.
Schmitz R, Young RM, Ceribelli M, Jhavar S,
Xiao W, Zhang M, Wright G, Shaffer AL, Hodson DJ, Buras E, Liu X, Powell
J, Yang Y, Xu W, Zhao H, Kohlhammer H, Rosenwald A, Kluin P,
Müller-Hermelink HK, Ott G, Gascoyne RD, Connors JM, Rimsza LM, Campo E,
Jaffe ES, Delabie J, Smeland EB, Ogwang MD, Reynolds SJ, Fisher RI,
Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Pittaluga S,
Wilson W, Waldmann TA, Rowe M, Mbulaiteye SM, Rickinson AB, Staudt LM.
Burkitt lymphoma pathogenesis and therapeutic targets from structural
and functional genomics. Nature. 2012 Oct 4;490(7418):116–120. PMCID: PMC3609867