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TranscriptomicsU2AF1 mutations alter splice site recognition in hematological malignancies
Whole-exome sequencing studies have identified common mutations affecting genes encoding components of the RNA splicing machinery in hematological malignancies. Here, we sought to determine how mutations affecting the 3' splice site recognition factor U2AF1 altered its normal role in RNA splicing. W...
ORGANISM(S): Homo sapiens 
2014-09-23 | E-GEOD-58871 | biostudies-arrayexpress
TranscriptomicsWidespread Use of Non-Productive Alternative Splice Sites in Saccharomyces cerevisiae
Using RNA-Seq analysis of nonsense-mediated mRNA decay (NMD) mutant strains, we show that many Saccharomyces cerevisiae intron-containing genes exhibit usage of alternative splice sites, but most transcripts generated by splicing from these sites are non-functional because they introduce premature t...
ORGANISM(S): Saccharomyces cerevisiae BY4741 
2014-02-21 | E-GEOD-55213 | biostudies-arrayexpress
GenomicsPOT1 splice site mutant analysis
We are interested in the contribution mutations in the Shelterin complex protein POT1 may have to the development of melanoma. We have identified a patient who carries a splice site mutation in POT1 and as part of our analysis of this gene we aim to sequence the transcriptome of this patient to see ...
EGAS00001000571 | EGA
TranscriptomicsA Novel Androgen Receptor Splice Variant Is Upregulated during Prostate Cancer Progression
The androgen receptor (AR) plays a key role in progression to incurable androgen-ablation resistant prostate cancer (PCA). We have identified three novel AR splice variants lacking the ligand binding domain (designated as AR3, AR4 and AR5) in hormone insensitive PCA cells. AR3, one of the major spl...
ORGANISM(S): Homo sapiens 
2009-03-16 | E-GEOD-13919 | biostudies-arrayexpress
GenomicsK120R mutation inactivates p53 by creating an aberrant splice site leading to nonsense-mediated mRNA decay
K120R mutation inactivates p53 by creating an aberrant splice site leading to nonsense-mediated mRNA decay
PRJNA490629 | ENA
TranscriptomicsmRNA profiling of wildtype, germline depleted, NMD mutant C. elegans whole worms and wildtype dissected gonads
Adjacent alternative 3’ splice sites, those separated by ≤18nt, provide a unique problem in the study of alternative splicing regulation; there is overlap of the cis-elements that define the adjacent sites. Identification of the intron's 3' end depends upon sequence elements that define the branchp...
ORGANISM(S): Caenorhabditis elegans 
2015-04-22 | E-GEOD-64672 | biostudies-arrayexpress
UnknownA novel splice site mutation in the noncoding region of BRCA2: implications for Fanconi anemia and familial breast cancer diagnostics.
Not available
S-EPMC4031605 | biostudies-literature
UnknownNovel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.
Not available
S-EPMC5975427 | biostudies-literature
Genomics
A novel splice site mutation in IDUA genen
PRJEB22993 | ENA
UnknownA Splice Site Mutation Associated with Congenital CD59 Deficiency.
Not available
S-EPMC9222317 | biostudies-literature
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