PCBP1

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2012-10-04 : Schmitz : BL

Relevance tier by entity

Entity Tier Description
PMBL 2 relevance in PMBL/cHL/GZL not firmly established
BL 1 high-confidence BL gene1
DLBCL 1 high-confidence DLBCL gene1

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

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

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

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