Data access comittee for Institut Curie

Dac ID Contact Person Email Access Information
EGAC00001001042 Thimothé Cynober data [dot] office [at] curie [dot] fr No additional information is available

This DAC controls 1 dataset:

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