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

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Mutation pattern and selective pressure estimates

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EPPK1 Hotspots

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

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Expression

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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;