Annotation Detail

Information
Associated Genes
SF3B2
Associated Variants
SF3B2 MUTATION
SF3B2 MUTATION
Associated Disease
uveal melanoma
Source Database
DisGeNET
Description
Using transcriptome sequencing data from chronic lymphocytic leukemia, breast cancer and uveal melanoma tumor samples, we show that hundreds of cryptic 3' splice sites (3'SSs) are used in cancers with SF3B1 mutations.
Pubmed
25768983
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
2
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00244297684872273
Drugs