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: European Genome-Phenome Archive (EGA)

1 Dataset 2 Publications

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001004398	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.	Illumina HiSeq 2500	76

Publications	Citations
Prospective validation in epithelial tumors of a gene expression predictor of liver metastasis derived from uveal melanoma. Tsantoulis P, Delorenzi M, Bièche I, Vacher S, Mariani P, Cassoux N, Houy A, Stern MH, Roman-Roman S, Dietrich PY, Roth A, Cacheux W. Sci Rep 9: 2019 17178	3
Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas. Mobuchon L, Derrien AC, Houy A, Verrier T, Pierron G, Cassoux N, Milder M, Deleuze JF, Boland A, Scelo G, Cancel-Tassin G, Cussenot O, Rodrigues M, Noirel J, Machiela MJ, Stern MH. J Natl Cancer Inst 114: 2022 302-309	7