RNAseq of 76 samples from Uveal Melanoma tumors
Hotspot mutations in the spliceosome gene SF3B1 are reported in 20% of uveal melanomas. SF3B1 is involved in 3'-splice site (3'ss) recognition during RNA splicing; however, the molecular mechanisms of its mutation have remained unclear. Here we show, using RNA-Seq analyses of uveal melanoma, that the SF3B1 R625/K666 mutation results in deregulated splicing at a subset of junctions, mostly by the use of alternative 3'ss
- Type: Other
- Archiver: EGA European Genome-Phenome Archive
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|EGAD00001004398||Illumina HiSeq 2500||76|
Prospective validation in epithelial tumors of a gene expression predictor of liver metastasis derived from uveal melanoma.
Sci Rep 9: 2019 17178
Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas.
J Natl Cancer Inst 114: 2022 302-309