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NFKBIA.md
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| 1 | 1 | # NFKBIA |
| 2 | 2 | ## Overview |
| 3 | -NFKBIA encodes IκBα, an inhibitor of NF-κB, which regulates the NF-κB signaling pathway by preventing the translocation of NF-κB to the nucleus. Mutations in NFKBIA can disrupt this regulation, leading to constitutive activation of NF-κB signaling, which has an important role in a subset of DLBCLs. Mutations and deletions in NFKBIA are observed in DLBCL and are associated with constitutive activation of the NF-κB pathway. These mutations often occur in the ABC subtype and are associated with the **ST2** genetic subgroup of DLBCL. |
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| 3 | +NFKBIA encodes IκBα, an inhibitor of NF-κB, which regulates the NF-κB signaling pathway by preventing the translocation of NF-κB to the nucleus. Mutations in NFKBIA can disrupt this regulation, leading to constitutive activation of NF-κB signaling, which has an important role in a subset of DLBCLs. Mutations and deletions in NFKBIA are observed in DLBCL and are associated with constitutive activation of the NF-κB pathway. These mutations often occur in the ABC subtype and are associated with the **ST2** genetic subgroup of DLBCL.<sup>1</sup> |
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| 4 | 4 | |
| 5 | 5 | ## Relevance tier by entity |
| 6 | 6 | |
| ... | ... | @@ -43,5 +43,9 @@ View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAM |
| 43 | 43 | View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/NFKBIA.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/NFKBIA_hg38.html) |
| 44 | 44 | |
| 45 | 45 |  |
| 46 | + |
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| 46 | 47 | ## NFKBIA Expression |
| 47 | 48 |  |
| 49 | + |
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| 50 | +## References |
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| 51 | +1. *Wright GW, Huang DW, Phelan JD, Coulibaly ZA, Roulland S, Young RM, Wang JQ, Schmitz R, Morin RD, Tang J, Jiang A, Bagaev A, Plotnikova O, Kotlov N, Johnson CA, Wilson WH, Scott DW, Staudt LM. A Probabilistic Classification Tool for Genetic Subtypes of Diffuse Large B Cell Lymphoma with Therapeutic Implications. Cancer Cell. 2020 Apr 13;37(4):551-568.e14. doi: 10.1016/j.ccell.2020.03.015. PMID: 32289277; PMCID: PMC8459709.* |