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ITPKB.md
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| 1 | 1 | # ITPKB |
| 2 | 2 | ## Overview |
| 3 | -ITPKB 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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| 3 | +The ITPKB gene encodes inositol-trisphosphate 3-kinase B, an enzyme involved in the regulation of intracellular calcium levels and PI3K/Akt signaling pathways. Mutations in ITPKB have been linked to various B-cell lymphomas, including DLBCL, PMBCL and, less commonly, FL.<sup>1</sup> ITPKB 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. These mutations are associated with the **BN2** genetic subgroup of DLBCL. |
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| 4 | 4 | |
| 5 | 5 | ## Relevance tier by entity |
| 6 | 6 | |
| ... | ... | @@ -35,9 +35,6 @@ ITPKB is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) |
| 35 | 35 | |chr1 |226920563 |226927885|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr1%3A226920563%2D226927885) |active_promoter | |
| 36 | 36 | |chr1 |226921088 |226927982|[intron-1](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr1%3A226921088%2D226927982)|enhancer | |
| 37 | 37 | |
| 38 | -> [!NOTE] |
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| 39 | -> First described in DLBCL in 2018 by [Schmitz R](https://pubmed.ncbi.nlm.nih.gov/29641966) |
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| 40 | - |
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| 41 | 38 | |
| 42 | 39 | ## ITPKB Hotspots |
| 43 | 40 | |
| ... | ... | @@ -53,3 +50,6 @@ View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAM |
| 53 | 50 | View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ITPKB.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ITPKB_hg38.html) |
| 54 | 51 | |
| 55 | 52 |  |
| 53 | + |
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| 54 | +## References |
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| 55 | +1. *Mareschal S, Dubois S, Viailly PJ, Bertrand P, Bohers E, Maingonnat C, Jaïs JP, Tesson B, Ruminy P, Peyrouze P, Copie-Bergman C, Fest T, Jo Molina T, Haioun C, Salles G, Tilly H, Lecroq T, Leroy K, Jardin F. Whole exome sequencing of relapsed/refractory patients expands the repertoire of somatic mutations in diffuse large B-cell lymphoma. Genes Chromosomes Cancer. 2016 Mar;55(3):251-67. doi: 10.1002/gcc.22328. Epub 2015 Nov 26. PMID: 26608593.* |