GSE128805

syn77092613

Created By Aditya Nath aditya.nath

doi: 10.1016/j.molcel.2019.07.017
title: Cancer-Causing Mutations in SF3B1 Alter Splicing by Disrupting Interaction with SUGP1
funder: NIH-NCI
series:
creator: Ali Abdullah
license: CC-BY 4.0
species: Homo sapiens
studyId: syn7349759
subject:
ageGroup:
citation: Zhang J et al. (2019). Disease-Causing Mutations in SF3B1 Alter Splicing by Disrupting Interaction with SUGP1. Mol Cell. 76(1):82-95.e7. doi: 10.1016/j.molcel.2019.07.017
dataType: gene expression
keywords: bone marrow mono nuclear cells
accessType: Open Access
contributor:
description: SF3B1, which encodes an essential spliceosomal protein, is frequently mutated in myelodysplastic syndromes (MDS) and many cancers. However, the defect of mutant SF3B1 is unknown. Here, we analyzed RNA-sequencing data from MDS patients and confirmed that SF3B1 mutants use aberrant 3' splice sites. To elucidate the underlying mechanism, we purified complexes containing either wild-type or the hotspot K700E mutant SF3B1, and found that levels of a poorly studied spliceosomal protein, SUGP1, were...
grantNumber: CA193313
diseaseFocus:
downloadType: Synapse Hosted
alternateName: GSE128805
manifestation:
specimenCount: 15
yearProcessed: 2019
countryOfOrigin:
individualCount: 15
visualizeDataOn:
dataUseModifiers:
conditionsOfAccess: No restriction
measurementTechnique: RNA-seq
externalRepositoryUri: geo:GSE128805
includedInDataCatalog:

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