Table of Contents

Relevance tier by entity

Entity Tier Description
BL 2 Role of EPPK1 mutations in BL requires confirmation

Mutation incidence in large patient cohorts (GAMBL reanalysis)

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 0 0 [0,0]
BL GAMBL without ICGC/Zhou 320 0 0 [0,0]
BL GAMBL with Panea 410 0 0 [0,0]
BL BLGSP 219 0 0 [0,0]
BL Zhou/ICGC 90 0 0 [0,0]
BL Panea 101 0 0 [0,0]

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 54 0.0496 [0.0367,0.0625]
DLBCL GAMBL with Reddy 2,088 105 0.0503 [0.0409,0.0597]
DLBCL BC 231 1 0.0043 [0,0.0128]
DLBCL Dana-Farber 303 14 0.0462 [0.0226,0.0698]
DLBCL NCI 470 38 0.0809 [0.0562,0.1055]
DLBCL Reddy 999 51 0.0511 [0.0374,0.0647]
DLBCL DLBCL_ICGC 85 1 0.0118 [0,0.0347]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 20 0.0312 [0.0177,0.0446]
FL GAMBL with Crouch 1,189 20 0.0168 [0.0095,0.0241]
FL BC 379 9 0.0237 [0.0084,0.0391]
FL Kalmbach 164 9 0.0549 [0.02,0.0897]
FL Crouch 547 0 0.0002 [0,0.0013]
FL FL_ICGC 99 2 0.0202 [0,0.0479]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 1.0048 0 1.0000
FL 0.7763 0 1.0000
DLBCL 0.0000 0 0.3531

EPPK1 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr8 144946005 G>A R473W

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 2019-09-26 : Panea : BL

References

1.
Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;

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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