3000c0b0502c5ea2e545c7710c0e8bb8b6db1a15
ARID1A.md
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| 1 | -# [ARID1A] |
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| 1 | +# ARID1A |
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| 2 | 2 | |
| 3 | +## Overview |
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| 3 | 4 | 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 | |
| 5 | -## Mutation tier |
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| 6 | +## Relevance tier by entity |
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| 6 | 7 | |
| 7 | 8 | |Entity|Tier|Description | |
| 8 | 9 | |:------:|:----:|--------------------------| |
| 9 | 10 | |BL |1 |high-confidence BL gene | |
| 10 | 11 | |DLBCL |1 |high-confidence DLBCL gene| |
| 11 | 12 | |FL |1 |high-confidence FL gene | |
| 12 | -## Mutation incidence |
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| 13 | +## Mutation incidence in large cohorts |
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| 13 | 14 | |
| 14 | 15 | |Entity|source |frequency (%)| |
| 15 | 16 | |:------:|:---------------------:|:-------------:| |
| ... | ... | @@ -22,7 +23,7 @@ ARID1A (AT-rich interactive domain-containing protein 1A) is a gene that encodes |
| 22 | 23 | |DLBCL |Chapuy cohort | 4.27 | |
| 23 | 24 | |FL |GAMBL genomes |12.47 | |
| 24 | 25 | |
| 25 | -## Mutation pattern |
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| 26 | +## Mutation pattern and selective pressure estimates |
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| 26 | 27 | |
| 27 | 28 | |Entity|aSHM|Significant selection|dN/dS (missense)|dN/dS (nonsense)| |
| 28 | 29 | |:------:|:----:|:---------------------:|:----------------:|:----------------:| |