Relevance tier by entity

Entity Tier Description
BL 2 Role of NOA1 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 7 0.0064 [0.0017,0.0112]
DLBCL GAMBL with Reddy 2,088 16 0.0077 [0.0039,0.0114]
DLBCL BC 231 0 0.0004 [0,0.0031]
DLBCL Dana-Farber 303 2 0.0066 [0,0.0157]
DLBCL NCI 470 5 0.0106 [0.0014,0.0199]
DLBCL Reddy 999 9 0.0090 [0.0031,0.0149]
DLBCL DLBCL_ICGC 85 0 0.0012 [0,0.0085]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 5 0.0078 [0.001,0.0146]
FL GAMBL with Crouch 1,189 5 0.0042 [5e-04,0.0079]
FL BC 379 3 0.0079 [0,0.0168]
FL Kalmbach 164 2 0.0122 [0,0.029]
FL Crouch 547 0 0.0002 [0,0.0013]
FL FL_ICGC 99 0 0.0010 [0,0.0073]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 0.6034 0 1.0000
FL 1.5321 0 1.0000
DLBCL 0.0000 0 0.9986

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 2022-07-06 : Burkhardt : BL

References

1.
Burkhardt B, Michgehl U, Rohde J, Erdmann T, Berning P, Reutter K, Rohde M, Borkhardt A, Burmeister T, Dave S, Tzankov A, Dugas M, Sandmann S, Fend F, Finger J, Mueller S, Gökbuget N, Haferlach T, Kern W, Hartmann W, Klapper W, Oschlies I, Richter J, Kontny U, Lutz M, Maecker-Kolhoff B, Ott G, Rosenwald A, Siebert R, von Stackelberg A, Strahm B, Woessmann W, Zimmermann M, Zapukhlyak M, Grau M, Lenz G. Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age. Nat Commun. 2022 Jul 6;13(1):3881. PMCID: PMC9259584