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ID3
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 al[@schmitzBurkittLymphomaPathogenesis2012] 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
Entity | Tier | Description |
---|---|---|
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1 | high-confidence BL gene [@richterRecurrentMutationID32012a] |
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1 | high-confidence MZL gene [@spinaGeneticsNodalMarginal2016b] |
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2 | Although recurrent, the relevance of mutations in DLBCL is tenuous[@schmitzBurkittLymphomaPathogenesis2012] |
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 |
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 |
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
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