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

Entity	Collection	N	mutated	Incidence	95% CI
DLBCL	GAMBL without Reddy	1,089	19	0.0174	[0.0097,0.0252]
DLBCL	GAMBL with Reddy	2,088	43	0.0206	[0.0145,0.0267]
DLBCL	BC	231	2	0.0087	[0,0.0206]
DLBCL	Dana-Farber	303	5	0.0165	[0.0022,0.0308]
DLBCL	NCI	470	11	0.0234	[0.0097,0.0371]
DLBCL	Reddy	999	24	0.0240	[0.0145,0.0335]
DLBCL	DLBCL_ICGC	85	1	0.0118	[0,0.0347]

BL

pathology	Collection	N	mutated	Incidence	CI
BL	GAMBL without Panea	309	37	0.1192	[0.0831,0.1553]
BL	GAMBL without ICGC/Zhou	320	37	0.1156	[0.0806,0.1506]
BL	GAMBL with Panea	410	49	0.1191	[0.0878,0.1505]
BL	BLGSP	219	25	0.1142	[0.072,0.1563]
BL	Zhou/ICGC	90	12	0.1333	[0.0631,0.2036]
BL	Panea	101	12	0.1188	[0.0557,0.1819]

Mutation pattern and selective pressure estimates

Entity	Missense dN/dS	Nonsense dN/dS	Q value
BL	9.5406	338.6463	0.0000
FL	1.0150	0.0000	1.0000
DLBCL	0.7211	3.0029	0.0451

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*

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

History

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

References

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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