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TranscriptomicsNuclear-localized tiny RNAs are associated with transcription initiation and splice sites in metazoans
We have recently shown that transcription initiation RNAs (tiRNAs) are derived from sequences downstream of transcription start sites. Here we report the identification of a second class of nuclear-specific ~17-18 nucleotide small RNA whose 3M-bM-^@M-^Y ends map precisely to the splice donor site of...
ORGANISM(S): Homo sapiens 
2010-07-01 | E-GEOD-20664 | biostudies-arrayexpress
UnknownAb initio prediction of mutation-induced cryptic splice-site activation and exon skipping.
Not available
S-EPMC2947103 | biostudies-literature
UnknownModulation of prion protein expression through cryptic splice site manipulation.
Not available
S-EPMC10769280 | biostudies-literature
UnknownModulation of prion protein expression through cryptic splice site manipulation.
Not available
S-EPMC11342779 | biostudies-literature
GenomicsDRBD3 regulates long non-coding RNA abundance and cryptic splice site selection in trypanosomes
DRBD3 regulates long non-coding RNA abundance and cryptic splice site selection in trypanosomes
PRJNA1136407 | ENA
UnknownA Deep Exon Cryptic Splice Site Promotes Aberrant Intron Retention in a Von Willebrand Disease Patient.
Not available
S-EPMC8706089 | biostudies-literature
TranscriptomicsHeritability of alternative splicing in the human genome
Alternative pre-mRNA splicing increases proteomic diversity and provides a potential mechanism underlying both phenotypic diversity and susceptibility to genetic disorders in human populations. To investigate the variation in splicing among humans on a genomewide scale, we use a comprehensive exon-t...
ORGANISM(S): Homo sapiens 
2007-08-07 | E-GEOD-7952 | biostudies-arrayexpress
UnknownHypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site.
Not available
S-EPMC10436458 | biostudies-literature
UnknownA novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta.
Not available
S-EPMC8339231 | biostudies-literature
TranscriptomicsCancer associated SF3B1 hotspot mutations induce cryptic 3' splice site selection through use of a different branch point
Recurrent mutations in the spliceosome are observed in several human cancers but their functional and therapeutic significance remain elusive. SF3B1, the most frequently mutated component of the spliceosome in cancer, is involved in the recognition of the branch point sequence (BPS) during selection...
ORGANISM(S): Mus musculus 
2015-09-08 | E-GEOD-72790 | biostudies-arrayexpress
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