cb8ca2e11c1c1b4fd2ccd7d9b3b1297786a65418
HNRNPU.md
| ... | ... | @@ -1,6 +1,6 @@ |
| 1 | 1 | # HNRNPU |
| 2 | 2 | ## Overview |
| 3 | -HNRNPU 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. |
|
| 3 | +HNRNPU 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. Mutations in HNRNPU are haploinsufficient and significantly alter the transcriptome of MYC-driven lymphomas. These mutations were found in a notable percentage of high-grade B-cell lymphomas with double-hit BCL2 translocations (HGBL-DH-BCL2) and Burkitt lymphoma (BL).<sup>1</sup> |
|
| 4 | 4 | |
| 5 | 5 | ## Relevance tier by entity |
| 6 | 6 | |
| ... | ... | @@ -54,3 +54,6 @@ View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAM |
| 54 | 54 | View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HNRNPU.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HNRNPU_hg38.html) |
| 55 | 55 | |
| 56 | 56 |  |
| 57 | + |
|
| 58 | +## References |
|
| 59 | +1. *Qureshi, Q., Coyle, K., Thomas, N., Collinge, B., Dreval, K., Hilton, L., Wong, J., Scott, D., Audas, T., & Morin, R. (2023). Hnrnpu mutations Are Haploinsufficient and Alter the Transcriptome of MYC-Driven Lymphomas. Blood. https://doi.org/10.1182/blood-2023-190409.* |