09828c427b3dd3795edba4d7e6e741ab9f00dd06
AICDA.md
| ... | ... | @@ -0,0 +1,41 @@ |
| 1 | +# [AICDA] |
|
| 2 | + |
|
| 3 | +## Mutation tier |
|
| 4 | + |
|
| 5 | +|Entity|Tier|Description | |
|
| 6 | +|:------:|:----:|-----------------------------------------| |
|
| 7 | +|DLBCL |2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous | |
|
| 8 | +## Mutation incidence |
|
| 9 | + |
|
| 10 | +|Entity|source |frequency (%)| |
|
| 11 | +|:------:|:--------------:|:-------------:| |
|
| 12 | +|DLBCL |GAMBL genomes |0.38 | |
|
| 13 | +|DLBCL |Schmitz cohort|0.43 | |
|
| 14 | +|DLBCL |Reddy cohort |0.30 | |
|
| 15 | +|DLBCL |Chapuy cohort |0.43 | |
|
| 16 | + |
|
| 17 | +## Mutation pattern |
|
| 18 | + |
|
| 19 | +|Entity|aSHM|Significant selection|dN/dS (missense)|dN/dS (nonsense)| |
|
| 20 | +|:------:|:----:|:---------------------:|:----------------:|:----------------:| |
|
| 21 | +|BL |Yes |No |2.589 |0 | |
|
| 22 | +|DLBCL |Yes |No |2.652 |0 | |
|
| 23 | +|FL |Yes |No |4.955 |0 | |
|
| 24 | + |
|
| 25 | +## aSHM regions |
|
| 26 | + |
|
| 27 | +|chr_name|hg19_start|hg19_end|region |regulatory_comment| |
|
| 28 | +|:--------:|:----------:|:--------:|:----------------------------------------------------------------------------------------:|:------------------:| |
|
| 29 | +|chr12 |8762328 |8765099 |[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr12%3A8762328%2D8765099)|NA | |
|
| 30 | + |
|
| 31 | +> [!NOTE] |
|
| 32 | +> First described in DLBCL in 2018 by [Arthur SE](https://pubmed.ncbi.nlm.nih.gov/30275490) |
|
| 33 | + |
|
| 34 | + |
|
| 35 | +View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/AICDA_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/AICDA_protein_hg38.html) |
|
| 36 | + |
|
| 37 | + |
|
| 38 | + |
|
| 39 | +View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/AICDA.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/AICDA_hg38.html) |
|
| 40 | + |
|
| 41 | + |
ANK2.md
| ... | ... | @@ -0,0 +1,33 @@ |
| 1 | +# [ANK2] |
|
| 2 | + |
|
| 3 | +## Mutation tier |
|
| 4 | + |
|
| 5 | +|Entity|Tier|Description | |
|
| 6 | +|:------:|:----:|---------------------------------------| |
|
| 7 | +|MCL |2 |relevance in MCL not firmly established| |
|
| 8 | +## Mutation incidence |
|
| 9 | + |
|
| 10 | +|Entity|source |frequency (%)| |
|
| 11 | +|:------:|:-------------:|:-------------:| |
|
| 12 | +|MCL |GAMBL genomes|1.9 | |
|
| 13 | + |
|
| 14 | +## Mutation pattern |
|
| 15 | + |
|
| 16 | +|Entity|aSHM|Significant selection|dN/dS (missense)|dN/dS (nonsense)| |
|
| 17 | +|:------:|:----:|:---------------------:|:----------------:|:----------------:| |
|
| 18 | +|BL |No |No |1.169 |1.1 | |
|
| 19 | +|DLBCL |No |No |0.393 |0.0 | |
|
| 20 | +|FL |No |No |0.340 |0.0 | |
|
| 21 | + |
|
| 22 | + |
|
| 23 | +> [!NOTE] |
|
| 24 | +> First described in MCL in 2014 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/24682267) |
|
| 25 | + |
|
| 26 | + |
|
| 27 | +View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ANK2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ANK2_protein_hg38.html) |
|
| 28 | + |
|
| 29 | + |
|
| 30 | + |
|
| 31 | +View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ANK2.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ANK2_hg38.html) |
|
| 32 | + |
|
| 33 | + |
ANKRD12.md
| ... | ... | @@ -10,9 +10,9 @@ |
| 10 | 10 | |Entity|source |frequency (%)| |
| 11 | 11 | |:------:|:--------------:|:-------------:| |
| 12 | 12 | |DLBCL |GAMBL genomes |2.29 | |
| 13 | -|DLBCL |Schmitz cohort| NA | |
|
| 14 | -|DLBCL |Reddy cohort | NA | |
|
| 15 | -|DLBCL |Chapuy cohort | NA | |
|
| 13 | +|DLBCL |Schmitz cohort|6.17 | |
|
| 14 | +|DLBCL |Reddy cohort |2.10 | |
|
| 15 | +|DLBCL |Chapuy cohort |5.13 | |
|
| 16 | 16 | |
| 17 | 17 | ## Mutation pattern |
| 18 | 18 | |
| ... | ... | @@ -24,6 +24,9 @@ |
| 24 | 24 | |
| 25 | 25 | |
| 26 | 26 | > [!NOTE] |
| 27 | +> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289) |
|
| 28 | + |
|
| 29 | + |
|
| 27 | 30 | View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ANKRD12_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ANKRD12_protein_hg38.html) |
| 28 | 31 | |
| 29 | 32 |  |
ANKRD17.md
| ... | ... | @@ -10,9 +10,9 @@ |
| 10 | 10 | |Entity|source |frequency (%)| |
| 11 | 11 | |:------:|:--------------:|:-------------:| |
| 12 | 12 | |DLBCL |GAMBL genomes |2.68 | |
| 13 | -|DLBCL |Schmitz cohort|4.30 | |
|
| 13 | +|DLBCL |Schmitz cohort|4.26 | |
|
| 14 | 14 | |DLBCL |Reddy cohort |3.80 | |
| 15 | -|DLBCL |Chapuy cohort |2.10 | |
|
| 15 | +|DLBCL |Chapuy cohort |2.14 | |
|
| 16 | 16 | |
| 17 | 17 | ## Mutation pattern |
| 18 | 18 |
ARID1A.md
| ... | ... | @@ -1,7 +1,5 @@ |
| 1 | 1 | # [ARID1A] |
| 2 | 2 | |
| 3 | -ARID1A (AT-rich interactive domain-containing protein 1A) is a gene that encodes a subunit of the SWI/SNF chromatin remodeling complex, which is involved in regulating DNA accessibility. Mutations in ARID1A are implicated in various cancers, including B-cell lymphomas. They are the most abundant in Burkitt lymphoma but also occur in FL and, to a lesser extent, DLBCL. |
|
| 4 | - |
|
| 5 | 3 | ## Mutation tier |
| 6 | 4 | |
| 7 | 5 | |Entity|Tier|Description | |
| ... | ... | @@ -17,9 +15,9 @@ ARID1A (AT-rich interactive domain-containing protein 1A) is a gene that encodes |
| 17 | 15 | |BL |Thomas cohort |36.00 | |
| 18 | 16 | |BL |Panea cohort |19.80 | |
| 19 | 17 | |DLBCL |GAMBL genomes | 8.80 | |
| 20 | -|DLBCL |Schmitz cohort | 8.90 | |
|
| 18 | +|DLBCL |Schmitz cohort | 8.94 | |
|
| 21 | 19 | |DLBCL |Reddy cohort | 4.40 | |
| 22 | -|DLBCL |Chapuy cohort | 4.30 | |
|
| 20 | +|DLBCL |Chapuy cohort | 4.27 | |
|
| 23 | 21 | |FL |GAMBL genomes |12.47 | |
| 24 | 22 | |
| 25 | 23 | ## Mutation pattern |
| ... | ... | @@ -35,20 +33,6 @@ ARID1A (AT-rich interactive domain-containing protein 1A) is a gene that encodes |
| 35 | 33 | > First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597). First described in DLBCL in 2013 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/23292937) |
| 36 | 34 | |
| 37 | 35 | |
| 38 | - ## ARID1A Hotspots |
|
| 39 | - |
|
| 40 | -| Chromosome |Coordinate (hg19) | ref>alt | HGVSp | |
|
| 41 | - | :---:| :---: | :--: | :---: | |
|
| 42 | -| chr1 | 27023114 | C>T | Q74* | |
|
| 43 | -| chr1 | 27023420 | C>T | Q176* | |
|
| 44 | -| chr1 | 27023423 | C>T | Q177* | |
|
| 45 | -| chr1 | 27023429 | C>T | P179S | |
|
| 46 | -| chr1 | 27023447 | C>T | Q185* | |
|
| 47 | -| chr1 | 27100207 | C>T | R1335* | |
|
| 48 | -| chr1 | 27100315 | T>C | F1343L | |
|
| 49 | -| chr1 | 27106354 | C>T | R1989* | |
|
| 50 | -| chr1 | 27106363 | T>C | S1992P | |
|
| 51 | - |
|
| 52 | 36 | View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ARID1A_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ARID1A_protein_hg38.html) |
| 53 | 37 | |
| 54 | 38 |  |