a97a1e78a8e3f77ce6028c18f77f4f440f661a50
EBF1.md
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| 1 | -EBF1 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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| 1 | +# EBF1 |
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| 2 | +## Overview |
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| 3 | +EBF1 is a critical transcription factor in early B-cell development, regulating the expression of key genes involved in B-cell differentiation, survival, and function. EBF1 is essential for proper B-cell receptor (BCR) signaling.<sup>1</sup> Mutations in EBF1 can impair BCR signaling pathways, affecting B-cell survival and proliferation.<sup>1</sup> EBF1 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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| 2 | 6 | |
| 3 | 7 | ## Relevance tier by entity |
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| ... | ... | @@ -60,3 +64,6 @@ View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAM |
| 60 | 64 | View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EBF1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EBF1_hg38.html) |
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| 68 | +## References |
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| 69 | +1. *Györy I, Boller S, Nechanitzky R, Mandel E, Pott S, Liu E, Grosschedl R. Transcription factor Ebf1 regulates differentiation stage-specific signaling, proliferation, and survival of B cells. Genes Dev. 2012 Apr 1;26(7):668-82. doi: 10.1101/gad.187328.112. Epub 2012 Mar 19. PMID: 22431510; PMCID: PMC3323878.* |