Transcriptomics

Dataset Information

241

Differential gene expression and exon usage in bone marrow from RARS patients with SF3B1 somatic mutations compared to healthy patients.


ABSTRACT: SF3B1, splicing factor 3b subunit 1 is a component of the RNA splicing machinery and it has been found to be highly mutated in refractory anemia with ring sideroblasts (RARS) and RARS associated with thrombocytosis (RARS-T). The aim of this study is to investigate the RNA splicing patterns in bone marrow from patients with SF3B1 somatic mutations compared to normal physiologic splicing. We compared the RNA splicing pattern as exon usage, differential gene expression, and pathway analysis with normal splicing mRNA profiles, as measured by RNA-Seq, in bone marrow derived mononuclear cells from 2 RARS patients with SF3B1 somatic mutations were compared to the mRNA profile of a normal donor.

ORGANISM(S): Homo sapiens  

SUBMITTER: John Barnard   Valeria Visconte  Ramon V Tiu 

PROVIDER: E-GEOD-43603 | ArrayExpress | 2013-01-18

SECONDARY ACCESSION(S): SRP018028GSE43603PRJNA186803

REPOSITORIES: GEO, ArrayExpress, ENA

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