ASD - ALTERNATIVE SPLICING


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FIELD NAME
FIELD VALUE
  
AEdbMotif ID:301
Internal ref. ID:1078-2004-a
Submitter name:ELEANOR WHITFIELD
Entry date:30-AUG-2005 14:33:07
Modification date:24-OCT-2006 14:35:38
 
Regulatory sequence name:cftr, intron 9
Entry type:Intron enhancer
Sequence origin:Intronic
Organism:Homo sapiens, human
Binding factors:PTBP1, TIA1
 
EMBL/Genbank/DDBJ/RefSeq Accession number:M28668
Ensembl ID:ENSG00000001626
AEdb ID:1459
Sequence:TTCTTTT
Mutated regulatory sequence:TTCATTT; TGAATTT
 
Methods:In vivo splicing assay
Gel mobility shift
Mutagenesis
UV cross-linking
Keywords:minigene
 
Citation line:Zuccato, E., et al., An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing. J Biol Chem, 2004. 279(17): p. 16980-8.
PubMed ID:14966131
 
Comments:Second motif, PY2, entry 302, is separated only by 1 nucleotide. Polypyrimidine-rich controlling element (PCE) contains a peculiar arrangement of three polypyrimidine-rich (PY) motifs, this is PY1.
(activated in workbench):N
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