ASD - ALTERNATIVE SPLICING


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FIELD NAME
FIELD VALUE
  
AEdbMotif ID:168
Internal ref. ID:
Submitter name:DARYA, STEFAN
Entry date:27-SEP-2004 16:32:18
Modification date:21-SEP-2005 13:28:55
 
Regulatory sequence name:chloride channel clc-1, intron 2
Entry type:Intron enhancer
Sequence origin:Intronic
Organism:Homo sapiens, human
Binding factors:CUG-BP*
 
EMBL/Genbank/DDBJ/RefSeq Accession number:NM_000083
Ensembl ID:ENSG00000188037
AEdb ID:
Sequence:GTTTGTTTGTTTGTTTGTTGTTTGTTTGTTTG
Mutated regulatory sequence:
 
Methods:Unknown
Keywords:
 
Citation line:Charlet-B., N, Savkur, R, Singh, G, Philips, A, Grice, E and Cooper, T: Loss of the muscle-specific chloride channel in type I myotonic dystrophy lead to misregulated alternative splicing. Mol Cell 2002, 10:45-53.
PubMed ID:12150906
 
Comments:Location of element-upstream of exon 3
(activated in workbench):Y
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