d8cef1416f1243205545020d7b9c19a39df267e9
ABI3BP.md
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| 1 | +# [ABI3BP] |
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| 2 | + |
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| 3 | +## Mutation tier |
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| 4 | + |
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| 5 | +|Entity|Tier|Description | |
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| 6 | +|:------:|:----:|-----------------------------------------| |
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| 7 | +|DLBCL |2 |relevance in DLBCL not firmly established| |
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| 8 | +## Mutation incidence |
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| 9 | + |
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| 10 | +|Entity|source |frequency (%)| |
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| 11 | +|:------:|:--------------:|:-------------:| |
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| 12 | +|DLBCL |GAMBL genomes |3.44 | |
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| 13 | +|DLBCL |Schmitz cohort|2.34 | |
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| 14 | +|DLBCL |Reddy cohort |1.80 | |
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| 15 | +|DLBCL |Chapuy cohort |2.99 | |
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| 16 | + |
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| 17 | +## Mutation pattern |
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| 18 | + |
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| 19 | +|Entity|aSHM|Significant selection|dN/dS (missense)|dN/dS (nonsense)| |
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| 20 | +|:------:|:----:|:---------------------:|:----------------:|:----------------:| |
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| 21 | +|BL |No |No |2.366 |2.365 | |
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| 22 | +|DLBCL |No |No |1.625 |0.000 | |
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| 23 | +|FL |No |No |2.009 |0.000 | |
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| 24 | + |
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| 25 | + |
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| 26 | +> [!NOTE] |
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| 27 | +> First described in DLBCL in 2013 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/23699601) |
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| 28 | + |
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| 29 | + |
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| 30 | +View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ABI3BP_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ABI3BP_protein_hg38.html) |
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| 31 | + |
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| 32 | + |
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| 33 | + |
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| 34 | +View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ABI3BP.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ABI3BP_hg38.html) |
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| 35 | + |
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| 36 | + |
ADAMTS1.md
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| 10 | 10 | |Entity|source |frequency (%)| |
| 11 | 11 | |:------:|:--------------:|:-------------:| |
| 12 | 12 | |DLBCL |GAMBL genomes |1.91 | |
| 13 | -|DLBCL |Schmitz cohort| NA | |
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| 14 | -|DLBCL |Reddy cohort | NA | |
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| 15 | -|DLBCL |Chapuy cohort | NA | |
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| 13 | +|DLBCL |Schmitz cohort|3.40 | |
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| 14 | +|DLBCL |Reddy cohort |1.70 | |
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| 15 | +|DLBCL |Chapuy cohort |2.56 | |
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| 16 | 16 | |
| 17 | 17 | ## Mutation pattern |
| 18 | 18 | |
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| 24 | 24 | |
| 25 | 25 | |
| 26 | 26 | > [!NOTE] |
| 27 | +> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289) |
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| 28 | + |
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| 29 | + |
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| 27 | 30 | View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ADAMTS1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ADAMTS1_protein_hg38.html) |
| 28 | 31 | |
| 29 | 32 |  |