DTX1.md
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# DTX1
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## Overview
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-DTX1 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.
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+Mutations in the DTX1 gene, which encodes the E3 ubiquitin ligase Deltex 1, have been identified in various B-cell lymphomas, including diffuse large B-cell lymphoma (DLBCL). DTX1 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. DTX1 functions as a negative regulator of the Notch signaling pathway. Some DTX1 mutations impair its function, thereby dysregulating Notch signaling, which is crucial for normal B-cell development and function.
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## Relevance tier by entity
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|Entity|source |frequency (%)|
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|:------:|:---------------------:|:-------------:|
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-|BL |GAMBL genomes+capture| 5.54 |
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-|BL |Thomas cohort | 5.90 |
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-|BL |Panea cohort | 8.90 |
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|DLBCL |GAMBL genomes |10.71 |
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|DLBCL |Schmitz cohort |13.62 |
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|DLBCL |Reddy cohort | 5.91 |
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|DLBCL |Chapuy cohort |11.54 |
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|FL |GAMBL genomes | 5.54 |
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+|BL |GAMBL genomes+capture| 5.54 |
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+|BL |Thomas cohort | 5.90 |
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+|BL |Panea cohort | 8.90 |
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## Mutation pattern and selective pressure estimates
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|Entity|aSHM|Significant selection|dN/dS (missense)|dN/dS (nonsense)|
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|:------:|:----:|:---------------------:|:----------------:|:----------------:|
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-|BL |Yes |No |5.556 |14.253 |
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|DLBCL |Yes |Yes |2.228 | 4.244 |
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|FL |Yes |No |6.305 | 0.000 |
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+|BL |Yes |No |5.556 |14.253 |
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## aSHM regions
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DTX1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DTX1_hg38.html)
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![image](images/proteinpaint/DTX1.svg)
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+## References
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+1. *de Miranda NF, Georgiou K, Chen L, Wu C, Gao Z, Zaravinos A, Lisboa S, Enblad G, Teixeira MR, Zeng Y, Peng R, Pan-Hammarström Q. Exome sequencing reveals novel mutation targets in diffuse large B-cell lymphomas derived from Chinese patients. Blood. 2014 Oct 16;124(16):2544-53. doi: 10.1182/blood-2013-12-546309. Epub 2014 Aug 29. PMID: 25171927; PMCID: PMC4199956.*
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