307d4df0a5d8c45e837bee78f7b1c0b3f015624d
ACTB.md
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| 1 | +# [ACTB] |
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| 2 | + |
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| 3 | +## Mutation tier |
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| 4 | + |
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| 5 | +|Entity|Tier| |
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| 6 | +|------|----| |
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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 | +|DLBCL |GAMBL genomes | 8.60 | |
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| 15 | +|DLBCL |Schmitz cohort| 9.80 | |
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| 16 | +|DLBCL |Reddy cohort | 6.30 | |
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| 17 | +|DLBCL |Chapuy cohort |12.40 | |
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| 18 | +|FL |GAMBL genomes | 5.31 | |
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| 19 | + |
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| 20 | +## Mutation pattern |
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| 21 | + |
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| 22 | +|Entity|aSHM|Significant selection|dN/dS (missense)|dN/dS (nonsense)| |
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| 23 | +|------|----|---------------------|----------------|----------------| |
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| 24 | +|BL |Yes |No | 5.217 |0 | |
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| 25 | +|DLBCL |Yes |No | 3.582 |0 | |
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| 26 | +|FL |Yes |No |10.476 |0 | |
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| 27 | + |
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| 28 | +## aSHM regions |
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| 29 | + |
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| 30 | +|chr_name|hg19_start|hg19_end|region|regulatory_comment| |
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| 31 | +|--------|----------|--------|------|------------------| |
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| 32 | +|chr7 |5568297 |5570856 |TSS |active_promoter | |
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| 33 | + |
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| 34 | +> [!NOTE] |
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| 35 | +> First described in DLBCL in 2012 by [Lohr JG](https://pubmed.ncbi.nlm.nih.gov/22343534) |
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