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

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DLBCL

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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;