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

Entity Tier Description
BL 3 Mutations are unlikely to be relevant to BL

Warnings

The variants reported in this gene failed QC

Mutation incidence in large patient cohorts (GAMBL reanalysis)

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]

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Representative Mutations

Rating ★ ☆ ☆ ☆ ☆

Although well supported in the data, this mutation is clearly germline

All Mutations

1060 1102 322

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2012-12-01 : Love : BL

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