Table of Contents

Relevance tier by entity

Entity Tier Description
BL 1 High-confidence BL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 22 0.0491 [0.0253,0.0729]
BL GAMBL without ICGC/Zhou 320 25 0.0726 [0.0442,0.1009]
BL GAMBL with Panea 410 27 0.0492 [0.0285,0.07]
BL BLGSP 219 20 0.0913 [0.0532,0.1295]
BL Zhou/ICGC 90 2 0.0222 [0,0.0527]
BL Panea 101 5 0.0495 [0.0072,0.0918]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 3.5999 11.7833 0.0001
FL 3.4833 11.6174 0.0023
DLBCL 1.2925 3.2747 0.1429

BMP7 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr20 55841157 C>T A8T
chr20 55841157 C>G A8P
chr20 55841156 G>C A8G
chr20 55841155 AG>TA A8V
chr20 55840966 G>T H71Q
chr20 55840965 G>C L72V
chr20 55840962 G>C Q73E
chr20 55840958 C>T G74D
chr20 55840954 C>A K75N
chr20 55840953 G>T H76N
chr20 55840953 G>C H76D
chr20 55840953 G>A H76Y
chr20 55840944 C>G A79P
chr20 55840935 A>G F82L
chr20 55840918 G>C Y87*
chr20 55840913 G>T A89D

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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