RNAseq of 76 samples from Uveal Melanoma tumors

Dataset ID Technology Samples
EGAD00001004398 Illumina HiSeq 2500 76

Dataset Description

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.

Who controls access to this dataset

For each dataset that requires controlled access, there is a corresponding Data Access Committee (DAC) who determine access permissions. Access to actual data files is not managed by the EGA. If you need to request access to this data set, please contact:

Data access comittee for Institut Curie
Contact person: Thimothé Cynober
Email: data [dot] office [at] curie [dot] fr
More details: EGAC00001001042


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