ABI3BP.md
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# ABI3BP
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## History
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Mutations were first described in DLBCL in 2013 by Morin et al.<sup>1</sup> Subsequent exome and genome-wide studies of DLBCL did not reproduce this observation.
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title Publication timing
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2013-08-15 : Morin : DLBCL
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```
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## Relevance tier by entity
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|Entity|Tier|Description |
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View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ABI3BP_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ABI3BP_protein_hg38.html)
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-![image](images/proteinpaint/ABI3BP_NM_015429.svg)
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+![](images/proteinpaint/ABI3BP_NM_015429.svg)
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ABI3BP.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ABI3BP_hg38.html)
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-![image](images/proteinpaint/ABI3BP.svg)
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+![](images/proteinpaint/ABI3BP.svg)
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## ABI3BP Expression
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-![image](images/gene_expression/ABI3BP_by_pathology.svg)
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## References
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EZH2.md
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# EZH2
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## Overview
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EZH2 encodes a histone methyltransferase that is a component of the polycomb repressive complex 2 (PRC2). This gene is recurrently mutated in both FL and DLBCL and has a common mutation hot spot (Y646) that affects the SET domain.<sup>1</sup> Mutations of this residue and some of the less common hotspots lead to enhanced methylation by PRC2.<sup>2,3</sup> Pharmacologic inhibitors of this activity such as tazemetostat have shown benefit in FL.<sup>3</sup> EZH2 mutations are one of the defining features of the EZB genetic subgroup of DLBCL. Although mutations in EZH2 have been described in some BL patients, they are extremely rare in most studies.<sup>4</sup>
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## History
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2012-12-01 : Love : BL
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2019-09-05 : Mottok : PMBL
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```
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## Relevance tier by entity
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|Entity|Tier|Description |
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|FL |No |Yes |117.987 |0 |
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-> [!NOTE]
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-> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597). First described in DLBCL in 2010 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/20081860). First described in FL in 2010 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/20081860)
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## EZH2 Hotspots
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View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EZH2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EZH2_protein_hg38.html)
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-![image](images/proteinpaint/EZH2_NM_001203247.svg)
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+![](images/proteinpaint/EZH2_NM_001203247.svg)
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EZH2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EZH2_hg38.html)
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-![image](images/proteinpaint/EZH2.svg)
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+![](images/proteinpaint/EZH2.svg)
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## EZH2 Expression
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-![image](images/gene_expression/EZH2_by_pathology.svg)
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+![](images/gene_expression/EZH2_by_pathology.svg)
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## References
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