cc46f1e773129d327937b435392ef752eeca7e59
Template.md
| ... | ... | @@ -7,11 +7,17 @@ link-citations: true |
| 7 | 7 | |
| 8 | 8 | [[_TOC_]] |
| 9 | 9 | |
| 10 | -[[include:Template_Overview.md]] |
|
| 10 | +## Relevance tier by entity |
|
| 11 | 11 | |
| 12 | -[[include:Template_History.md]] |
|
| 12 | +|Entity|Tier|Description | |
|
| 13 | +|:------:|:----:|--------------------------------------| |
|
| 14 | +| |1[@balSuperenhancerHypermutationAlters2022] |high-confidence DLBCL gene [@tanakaFrequentIncidenceSomatic1992]| |
|
| 15 | +| |1 |high-confidence FL gene| |
|
| 16 | +||2|relevance in PMBL/cHL/GZL not firmly established[@sarkozyMutationalLandscapeGray2021]| |
|
| 17 | +| |2 |relevance in BL not firmly established[@burkhardtClinicalRelevanceMolecular2022]| |
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| 18 | + |
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| 19 | +[[include:Template_Overview.md]] |
|
| 13 | 20 | |
| 14 | -[[include:Template_Relevance.md]] |
|
| 15 | 21 | |
| 16 | 22 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 17 | 23 | |
| ... | ... | @@ -23,37 +29,15 @@ link-citations: true |
| 23 | 29 | |
| 24 | 30 | [[include:Pattern.md]] |
| 25 | 31 | |
| 26 | -## aSHM regions |
|
| 27 | - |
|
| 28 | -|chr_name|hg19_start|hg19_end|region |regulatory_comment| |
|
| 29 | -|:--------:|:----------:|:--------:|:---------------------------------------------------------------------------------------------:|:------------------:| |
|
| 30 | -|chr18 |60796984 |60814103|[intron](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr18%3A60796984%2D60814103)|strong_enhancer | |
|
| 31 | -|chr18 |60982728 |60988342|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr18%3A60982728%2D60988342) |active_promoter | |
|
| 32 | +[[include:Template_aSHM.md]] |
|
| 32 | 33 | |
| 34 | +[[include:Template_History.md]] |
|
| 33 | 35 | |
| 36 | +[[include:Template_Hotspots.md]] |
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| 34 | 37 | |
| 35 | -## Hotspots |
|
| 36 | - |
|
| 37 | -| Chromosome |Coordinate (hg19) | ref>alt | HGVSp | |
|
| 38 | - | :---:| :---: | :--: | :---: | |
|
| 39 | -| chr18 | 60985854 | T>C | M16V | |
|
| 40 | -| chr18 | 60985854 | T>A | M16L | |
|
| 41 | -| chr18 | 60985853 | A>T | M16K | |
|
| 42 | -| chr18 | 60985852 | C>T | M16I | |
|
| 43 | -| chr18 | 60985849 | C>G | K17N | |
|
| 44 | -| chr18 | 60985842 | G>A | H20Y | |
|
| 45 | -| chr18 | 60985840 | A>C | H20Q | |
|
| 46 | -| chr18 | 60985838 | T>G | Y21S | |
|
| 47 | -| chr18 | 60985835 | T>C | K22R | |
|
| 48 | -| chr18 | 60985834 | CT>TC | K22R | |
|
| 49 | - |
|
| 50 | -View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BCL2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BCL2_protein_hg38.html) |
|
| 51 | - |
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| 52 | - |
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| 53 | 38 | |
| 54 | -View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BCL2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BCL2_hg38.html) |
|
| 39 | +[[include:Template_Browser.md]] |
|
| 55 | 40 | |
| 56 | - |
|
| 57 | 41 | |
| 58 | 42 | |
| 59 | 43 | ## Expression |
Template_Browser.md
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| 1 | +## Browse mutations |
|
| 2 | + |
|
| 3 | +View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BCL2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BCL2_protein_hg38.html) |
|
| 4 | + |
|
| 5 | + |
|
| 6 | + |
|
| 7 | +View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BCL2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BCL2_hg38.html) |
|
| 8 | + |
|
| 9 | + |
Template_Hotspots.md
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| 1 | +## Hotspots |
|
| 2 | + |
|
| 3 | +| Chromosome |Coordinate (hg19) | ref>alt | HGVSp | |
|
| 4 | + | :---:| :---: | :--: | :---: | |
|
| 5 | +| chr18 | 60985854 | T>C | M16V | |
|
| 6 | +| chr18 | 60985854 | T>A | M16L | |
|
| 7 | +| chr18 | 60985853 | A>T | M16K | |
|
| 8 | +| chr18 | 60985852 | C>T | M16I | |
|
| 9 | +| chr18 | 60985849 | C>G | K17N | |
|
| 10 | +| chr18 | 60985842 | G>A | H20Y | |
|
| 11 | +| chr18 | 60985840 | A>C | H20Q | |
|
| 12 | +| chr18 | 60985838 | T>G | Y21S | |
|
| 13 | +| chr18 | 60985835 | T>C | K22R | |
|
| 14 | +| chr18 | 60985834 | CT>TC | K22R | |
Template_aSHM.md
| ... | ... | @@ -0,0 +1,6 @@ |
| 1 | +## aSHM regions |
|
| 2 | + |
|
| 3 | +|chr_name|hg19_start|hg19_end|region |regulatory_comment| |
|
| 4 | +|:--------:|:----------:|:--------:|:---------------------------------------------------------------------------------------------:|:------------------:| |
|
| 5 | +|chr18 |60796984 |60814103|[intron](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr18%3A60796984%2D60814103)|strong_enhancer | |
|
| 6 | +|chr18 |60982728 |60988342|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr18%3A60982728%2D60988342) |active_promoter | |