88646972f88c7eb30cdfe534513720941cdd31e8
Template.md
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| 1 | ---- |
|
| 2 | -bibliography: 'morinlab.bib' |
|
| 3 | -csl: 'NLM.csl' |
|
| 4 | -link-citations: true |
|
| 5 | -nocite: | |
|
| 6 | - @balSuperenhancerHypermutationAlters2022, @tanakaFrequentIncidenceSomatic1992, @sarkozyMutationalLandscapeGray2021, @burkhardtClinicalRelevanceMolecular2022 |
|
| 7 | ---- |
|
| 8 | - |
|
| 9 | - |
|
| 10 | -[[_TOC_]] |
|
| 11 | - |
|
| 12 | -## Overview |
|
| 13 | - |
|
| 14 | -## Relevance tier by entity |
|
| 15 | - |
|
| 16 | -*test* |
|
| 17 | - |
|
| 18 | -[[include:Template_Relevance.md]] |
|
| 19 | - |
|
| 20 | -## Warnings |
|
| 21 | - |
|
| 22 | -*may not exist* |
|
| 23 | - |
|
| 24 | -## Mutation incidence from meta-analysis |
|
| 25 | -*sub headings per file here unless there is just one* |
|
| 26 | - |
|
| 27 | -### DLBCL |
|
| 28 | -[[include:tables/DLBCL_BCL2.md]] |
|
| 29 | - |
|
| 30 | -### FL |
|
| 31 | -[[include:tables/FL_BCL2.md]] |
|
| 32 | - |
|
| 33 | -### BL |
|
| 34 | -[[include:tables/BL_BCL2.md]] |
|
| 35 | - |
|
| 36 | -## Mutation pattern and selective pressure estimates |
|
| 37 | - |
|
| 38 | -[[include:tables/dnds_BCL2.md]] |
|
| 39 | - |
|
| 40 | -## aSHM regions |
|
| 41 | - |
|
| 42 | -*section will only exist for certain genes* |
|
| 43 | - |
|
| 44 | -|chr_name|hg19_start|hg19_end|region|regulatory_comment| |
|
| 45 | -|:--------:|:----------:|:--------:|:--------:|:------------------:| |
|
| 46 | -|chr6 |90981034 |91016134|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr6%3A90981034%2D91016134)|NA| |
|
| 47 | - |
|
| 48 | -## Hotspots |
|
| 49 | - |
|
| 50 | -*section will only exist for certain genes* |
|
| 51 | - |
|
| 52 | -[[include:Template_Browser.md]] |
|
| 53 | - |
|
| 54 | -## Expression |
|
| 55 | - |
|
| 56 | - |
|
| 57 | - |
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| 58 | -[[include:Template_History.md]] |
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| 59 | - |
|
| 60 | -## References |
|
| 61 | - |
|
| 62 | - |
Template_Browser.md
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| 1 | -## Browse mutations |
|
| 2 | - |
|
| 3 | -### Protein |
|
| 4 | -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) |
|
| 5 | - |
|
| 6 | - |
|
| 7 | - |
|
| 8 | -### Genome |
|
| 9 | -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) |
|
| 10 | - |
|
| 11 | - |
Template_Expression.md
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| 1 | -## Expression |
|
| 2 | - |
Template_History.md
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| 1 | -## History |
|
| 2 | - |
|
| 3 | -```mermaid |
|
| 4 | -%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | -timeline |
|
| 6 | - title Publication timing |
|
| 7 | - 1992-01-01 : Tanaka : DLBCL |
|
| 8 | - 2011-07-27 : Morin : FL |
|
| 9 | - 2021-04-01 : Sarkozy : PMBL |
|
| 10 | - 2022-07-06 : Burkhardt : BL |
|
| 11 | -``` |
|
| ... | ... | \ No newline at end of file |
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_Overview.md
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| 1 | -## Overview |
|
| 2 | - |
|
| 3 | -BCL2 mutations are frequently found in DLBCL, particularly in the germinal center B-cell (GCB) subtype, and are often located in the flexible loop domain and outside the BCL2-homology domains. |
|
| 4 | -These mutations are caused by the somatic hypermutation process. The presence of these mutations are strongly correlated with the presence of a translocation between BCL2 and one of the immunoglobulin loci. |
|
| 5 | -Although missense mutations may not be under positive selective pressure in the context of lymphomagenesis, some of these mutations may interfere with the function of BCL2 antagonists. |
Template_Relevance.md
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| 1 | - |
|
| 2 | -# Test |
|
| 3 | - |
|
| 4 | -|Entity|Tier|Description | |
|
| 5 | -|:------:|:----:|--------------------------------------| |
|
| 6 | -| |[1](DLBCL_genes#tier-1-dlbcl-genes)|high-confidence DLBCL gene | |
|
| 7 | -| |1 |high-confidence FL gene| |
|
| 8 | -||2|relevance in PMBL/cHL/GZL not firmly established| |
|
| 9 | -| |[2](BL_genes#tier-2-bl-genes) |relevance in BL not firmly established| |
Template_aSHM.md
| ... | ... | @@ -1,6 +0,0 @@ |
| 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 | |
templates/Template.md
| ... | ... | @@ -0,0 +1,62 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +nocite: | |
|
| 6 | + @balSuperenhancerHypermutationAlters2022, @tanakaFrequentIncidenceSomatic1992, @sarkozyMutationalLandscapeGray2021, @burkhardtClinicalRelevanceMolecular2022 |
|
| 7 | +--- |
|
| 8 | + |
|
| 9 | + |
|
| 10 | +[[_TOC_]] |
|
| 11 | + |
|
| 12 | +## Overview |
|
| 13 | + |
|
| 14 | +## Relevance tier by entity |
|
| 15 | + |
|
| 16 | +*test* |
|
| 17 | + |
|
| 18 | +[[include:Template_Relevance.md]] |
|
| 19 | + |
|
| 20 | +## Warnings |
|
| 21 | + |
|
| 22 | +*may not exist* |
|
| 23 | + |
|
| 24 | +## Mutation incidence from meta-analysis |
|
| 25 | +*sub headings per file here unless there is just one* |
|
| 26 | + |
|
| 27 | +### DLBCL |
|
| 28 | +[[include:tables/DLBCL_BCL2.md]] |
|
| 29 | + |
|
| 30 | +### FL |
|
| 31 | +[[include:tables/FL_BCL2.md]] |
|
| 32 | + |
|
| 33 | +### BL |
|
| 34 | +[[include:tables/BL_BCL2.md]] |
|
| 35 | + |
|
| 36 | +## Mutation pattern and selective pressure estimates |
|
| 37 | + |
|
| 38 | +[[include:tables/dnds_BCL2.md]] |
|
| 39 | + |
|
| 40 | +## aSHM regions |
|
| 41 | + |
|
| 42 | +*section will only exist for certain genes* |
|
| 43 | + |
|
| 44 | +|chr_name|hg19_start|hg19_end|region|regulatory_comment| |
|
| 45 | +|:--------:|:----------:|:--------:|:--------:|:------------------:| |
|
| 46 | +|chr6 |90981034 |91016134|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr6%3A90981034%2D91016134)|NA| |
|
| 47 | + |
|
| 48 | +## Hotspots |
|
| 49 | + |
|
| 50 | +*section will only exist for certain genes* |
|
| 51 | + |
|
| 52 | +[[include:Template_Browser.md]] |
|
| 53 | + |
|
| 54 | +## Expression |
|
| 55 | + |
|
| 56 | + |
|
| 57 | + |
|
| 58 | +[[include:Template_History.md]] |
|
| 59 | + |
|
| 60 | +## References |
|
| 61 | + |
|
| 62 | + |
templates/Template_Browser.md
| ... | ... | @@ -0,0 +1,11 @@ |
| 1 | +## Browse mutations |
|
| 2 | + |
|
| 3 | +### Protein |
|
| 4 | +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) |
|
| 5 | + |
|
| 6 | + |
|
| 7 | + |
|
| 8 | +### Genome |
|
| 9 | +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) |
|
| 10 | + |
|
| 11 | + |
templates/Template_Expression.md
| ... | ... | @@ -0,0 +1,2 @@ |
| 1 | +## Expression |
|
| 2 | + |
templates/Template_History.md
| ... | ... | @@ -0,0 +1,11 @@ |
| 1 | +## History |
|
| 2 | + |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 1992-01-01 : Tanaka : DLBCL |
|
| 8 | + 2011-07-27 : Morin : FL |
|
| 9 | + 2021-04-01 : Sarkozy : PMBL |
|
| 10 | + 2022-07-06 : Burkhardt : BL |
|
| 11 | +``` |
|
| ... | ... | \ No newline at end of file |
templates/Template_Hotspots.md
| ... | ... | @@ -0,0 +1,14 @@ |
| 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 | |
templates/Template_Overview.md
| ... | ... | @@ -0,0 +1,5 @@ |
| 1 | +## Overview |
|
| 2 | + |
|
| 3 | +BCL2 mutations are frequently found in DLBCL, particularly in the germinal center B-cell (GCB) subtype, and are often located in the flexible loop domain and outside the BCL2-homology domains. |
|
| 4 | +These mutations are caused by the somatic hypermutation process. The presence of these mutations are strongly correlated with the presence of a translocation between BCL2 and one of the immunoglobulin loci. |
|
| 5 | +Although missense mutations may not be under positive selective pressure in the context of lymphomagenesis, some of these mutations may interfere with the function of BCL2 antagonists. |
templates/Template_Relevance.md
| ... | ... | @@ -0,0 +1,9 @@ |
| 1 | + |
|
| 2 | +# Test |
|
| 3 | + |
|
| 4 | +|Entity|Tier|Description | |
|
| 5 | +|:------:|:----:|--------------------------------------| |
|
| 6 | +| |[1](DLBCL_genes#tier-1-dlbcl-genes)|high-confidence DLBCL gene | |
|
| 7 | +| |1 |high-confidence FL gene| |
|
| 8 | +||2|relevance in PMBL/cHL/GZL not firmly established| |
|
| 9 | +| |[2](BL_genes#tier-2-bl-genes) |relevance in BL not firmly established| |
templates/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 | |