ID3
History
ID3 was first reported as mutated in BL in 2012 by Richter et al.richterRecurrentMutationID32012a? The existence of mutations in DLBCL were described in 2012 by Schmitz et al1 and later in MZL by Spina et al.spinaGeneticsNodalMarginal2016b?
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timeline
title Publication timing
2012-10-04 : Schmitz : DLBCL
2012-11-11 : Richter : BL
2016 : Spina : MZL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | high-confidence BL generichterRecurrentMutationID32012a? | |
| 1 | high-confidence MZL genespinaGeneticsNodalMarginal2016b? | |
| 2 | Although recurrent, the relevance of mutations in DLBCL is tenuous1 |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 45.50 |
| BL | Thomas cohort | 47.00 |
| BL | Panea cohort | 31.70 |
| DLBCL | GAMBL genomes | 1.53 |
| DLBCL | Schmitz cohort | 4.68 |
| DLBCL | Reddy cohort | 3.50 |
| DLBCL | Chapuy cohort | 0.85 |
| FL | GAMBL genomes | 0.92 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | Yes | 42.419 | 439.808 |
| DLBCL | Yes | Yes | 0.000 | 30.520 |
| FL | Yes | No | 3.497 | 0.000 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr1 | 23885584 | 23885835 | TSS | NA |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
ID3 Expression
References
1.
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


