ASD - ALTERNATIVE SPLICING


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FIELD NAME
FIELD VALUE
  
AEdbMotif ID:237
Internal ref. ID:594a
Submitter name:JIANG WEI
Entry date:01-OCT-2004 17:51:54
 
Regulatory sequence name:smn2: survival of motor neuron 2, centromeric,exon7
Entry type:Exon enhancer
Sequence origin:Exonic
Organism:Homo sapiens, human
Binding factors:SR protein
 
EMBL/Genbank/DDBJ/RefSeq Accession number:NM_007294
Ensembl ID:ENSG00000172062
AEdb ID:
Sequence:CAGACAA
Mutated regulatory sequence:
 
Methods:Natural ocurring mutant
Keywords:enhancer elements,point mutation,rna splice sites
 
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: L. Cartegni and A.R. Krainer, Correction of disease-associated exon skipping by synthetic exon-specific activators. Nat. Struct. Biol. 10 (2003), pp. 120125.
(activated in workbench):Y
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