ASD - ALTERNATIVE SPLICING


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FIELD NAME
FIELD VALUE
  
AEdbMotif ID:239
Internal ref. ID:594c
Submitter name:ELEANOR WHITFIELD
Entry date:01-OCT-2004 18:08:30
Modification date:11-OCT-2006 17:40:28
 
Regulatory sequence name:cftr, exon12
Entry type:Exon enhancer
Sequence origin:Exonic
Organism:Homo sapiens, human
Binding factors:SFRS1 (SF2/ASF)
 
EMBL/Genbank/DDBJ/RefSeq Accession number:M28668
Ensembl ID:ENSG00000001626
AEdb ID:1459
Sequence:AAGATGC
Mutated regulatory sequence:ATGATGC; AAAATGC; AAGTTGC; AAGAAGC; AAGATAC; AAGATGT
 
Methods:In vitro splicing assay
Mutagenesis
Keywords:
 
Citation line:Buratti, E.; Baralle, F. E.; Pagani, F.(2003)" Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better?" Trends Mol Med. 2003 Jun;9(6):229-32; discussion 233-4.
PubMed ID:12829008
 
Comments:The original paper is: Pagani, F., et al. New type of disease-causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. Hum. Mol. Genet. 12(10):1111-20
(activated in workbench):Y
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