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ARID1A.md
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| 1 | + |
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| 2 | +## Mutation tier |
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| 3 | + |
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| 4 | +|Entity|Tier| |
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| 5 | +|------|----| |
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| 6 | +|BL |1 | |
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| 7 | +|DLBCL |1 | |
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| 8 | +|FL |1 | |
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| 9 | + |
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| 10 | +## Mutation incidence |
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| 11 | + |
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| 12 | +|Entity|study |frequency (%)| |
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| 13 | +|------|---------------------|-------------| |
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| 14 | +|BL |GAMBL genomes+capture|28.64 | |
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| 15 | +|BL |Thomas cohort |36.00 | |
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| 16 | +|BL |Panea cohort |19.80 | |
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| 17 | +|DLBCL |GAMBL genomes | 8.40 | |
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| 18 | +|DLBCL |Schmitz cohort | 8.90 | |
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| 19 | +|DLBCL |Reddy cohort | 4.40 | |
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| 20 | +|DLBCL |Chapuy cohort | 4.30 | |
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| 21 | +|FL |GAMBL genomes |12.47 | |
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| 22 | + |
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| 23 | +## Mutation pattern |
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| 24 | + |
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| 25 | +[View BL in GenomePaint browser](https://proteinpaint.stjude.org/?position=chr1:27019726-27108595&block=on&genome=hg19&svcnvfpkmurl=GAMBL_BL,vcf,https://bcgsc.ca/downloads/morinlab/vsouza/bundled_allLymphomaGenes_genome_grch37/vcf/BL_sorted.vcf.gz) |
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| 26 | + |
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| 27 | +[View FL in GenomePaint browser](https://proteinpaint.stjude.org/?position=chr1:27019726-27108595&block=on&genome=hg19&svcnvfpkmurl=GAMBL_FL,vcf,https://bcgsc.ca/downloads/morinlab/vsouza/bundled_allLymphomaGenes_genome_grch37/vcf/FL_sorted.vcf.gz) |
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| 28 | + |
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| 29 | +|Entity|aSHM|Significant selection|dN/dS (missense)|dN/dS (nonsense)| |
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| 30 | +|------|----|---------------------|----------------|----------------| |
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| 31 | +|BL |No |Yes |3.218 |130.201 | |
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| 32 | +|DLBCL |No |Yes |2.364 | 38.689 | |
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| 33 | +|FL |No |Yes |3.794 |248.722 | |
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| 34 | + |
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| 35 | + |
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| 36 | +> [!NOTE] |
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| 37 | +> 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) |
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