Overview

ID3 was first reported as mutated in BL in 2012 by Richter et al.1 The existence of mutations in DLBCL were described in 2012 by Schmitz et al2 and later in MZL by Spina et al.3

Relevance tier by entity

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Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 30 0.0275 [0.0178,0.0373]
DLBCL GAMBL with Reddy 2,088 65 0.0311 [0.0237,0.0386]
DLBCL BC 231 3 0.0130 [0,0.0276]
DLBCL Dana-Farber 303 2 0.0066 [0,0.0157]
DLBCL NCI 470 22 0.0468 [0.0277,0.0659]
DLBCL Reddy 999 35 0.0350 [0.0236,0.0464]
DLBCL DLBCL_ICGC 85 3 0.0353 [0,0.0745]
pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 150 0.4860 [0.4308,0.5412]
BL GAMBL without ICGC/Zhou 320 129 0.3995 [0.3462,0.4527]
BL GAMBL with Panea 410 182 0.4403 [0.3931,0.4875]
BL BLGSP 219 97 0.4429 [0.3771,0.5087]
BL Zhou/ICGC 90 53 0.5889 [0.4872,0.6905]
BL Panea 101 32 0.3168 [0.2261,0.4076]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 40.7946 353.7024 0e+00
FL 3.3872 17.2895 1e+00
DLBCL 2.4427 4.4739 6e-04

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr1 23885584 23885835 TSS NA

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Expression

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References

1.
Richter J, Schlesner M, Hoffmann S, Kreuz M, Leich E, Burkhardt B, Rosolowski M, Ammerpohl O, Wagener R, Bernhart SH, Lenze D, Szczepanowski M, Paulsen M, Lipinski S, Russell RB, Adam-Klages S, Apic G, Claviez A, Hasenclever D, Hovestadt V, Hornig N, Korbel JO, Kube D, Langenberger D, Lawerenz C, Lisfeld J, Meyer K, Picelli S, Pischimarov J, Radlwimmer B, Rausch T, Rohde M, Schilhabel M, Scholtysik R, Spang R, Trautmann H, Zenz T, Borkhardt A, Drexler HG, Möller P, MacLeod RAF, Pott C, Schreiber S, Trümper L, Loeffler M, Stadler PF, Lichter P, Eils R, Küppers R, Hummel M, Klapper W, Rosenstiel P, Rosenwald A, Brors B, Siebert R, ICGC MMML-Seq Project. Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing. Nat Genet. 2012 Dec;44(12):1316–1320.
2.
Schmitz R, Young RM, Ceribelli M, Jhavar S, Xiao W, Zhang M, Wright G, Shaffer AL, Hodson DJ, Buras E, Liu X, Powell J, Yang Y, Xu W, Zhao H, Kohlhammer H, Rosenwald A, Kluin P, Müller-Hermelink HK, Ott G, Gascoyne RD, Connors JM, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Ogwang MD, Reynolds SJ, Fisher RI, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Pittaluga S, Wilson W, Waldmann TA, Rowe M, Mbulaiteye SM, Rickinson AB, Staudt LM. Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics. Nature. 2012 Oct 4;490(7418):116–120. PMCID: PMC3609867
3.
Spina V, Khiabanian H, Messina M, Monti S, Cascione L, Bruscaggin A, Spaccarotella E, Holmes AB, Arcaini L, Lucioni M, Tabbò F, Zairis S, Diop F, Cerri M, Chiaretti S, Marasca R, Ponzoni M, Deaglio S, Ramponi A, Tiacci E, Pasqualucci L, Paulli M, Falini B, Inghirami G, Bertoni F, Foà R, Rabadan R, Gaidano G, Rossi D. The genetics of nodal marginal zone lymphoma. Blood. 2016 Sep 8;128(10):1362–1373. PMCID: PMC5016706