ASD - ALTERNATIVE SPLICING


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FIELD NAME
FIELD VALUE
  
AEdbMotif ID:2
Internal ref. ID:
Submitter name:ELEANOR WHITFIELD
Entry date:13-SEP-2004 14:21:39
Modification date:25-SEP-2006 16:55:44
 
Regulatory sequence name:cftr, exon 9
Entry type:Exon silencer
Sequence origin:Exonic
Organism:Homo sapiens, human
Binding factors:SFRS1 (SF2/ASF), SFRS6 (SRp55), SFRS4 (SRp75)
 
EMBL/Genbank/DDBJ/RefSeq Accession number:M28668
Ensembl ID:ENSG00000001626
AEdb ID:1459
Sequence:TTAATTTCAAGA
Mutated regulatory sequence:
 
Methods:Deletion analysis
In vivo splicing assay
UV cross-linking
Keywords:cystic fibrosis
 
Citation line:Pagani F, Buratti E, Stuani C, Romano M, Zuccato E, Niksic M, Giglio L, Faraguna D, Baralle FE., Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element. J Biol Chem. 2000 Jul 14;275(28):21041-7.
PubMed ID:10766763
 
Comments:
(activated in workbench):Y
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