Table of Contents

Overview

Due to minimal support in the original primary data and very few mutations reported in subsequent studies, this gene is very unlikely to be relevant in BL.

Relevance tier by entity

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Warnings

The variants reported in this gene failed QC

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 3.93
BL Thomas cohort NA
BL Panea cohort NA

Mutation pattern and selective pressure estimates

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CAD Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr2 27455966 T>A Y983*

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Expression

Representative Mutation

Rating ★ ☆ ☆ ☆ ☆

All Mutations

1064 1102 479 479

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References

1.
Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561

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