EBF1.md
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-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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+# EBF1
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+## Overview
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+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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## Relevance tier by entity
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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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![image](images/proteinpaint/EBF1.svg)
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+## References
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+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.*