ASD - ALTERNATIVE SPLICING


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FIELD NAME
FIELD VALUE
  
AEdbMotif ID:3
Internal ref. ID:
Submitter name:ELEANOR WHITFIELD
Entry date:13-SEP-2004 14:23:16
Modification date:27-SEP-2006 17:02:41
 
Regulatory sequence name:cftr, exon 13
Entry type:Exon enhancer
Sequence origin:Exonic
Organism:Homo sapiens, human
Binding factors:SFRS1 (ASF/SF2), TRA2A (hTra2alpha)
 
EMBL/Genbank/DDBJ/RefSeq Accession number:M28668
Ensembl ID:ENSG00000001626
AEdb ID:1459
Sequence:GAAAGAAGAAA
Mutated regulatory sequence:GATTGTTGTTA
 
Methods:In vitro splicing assay
Mutagenesis
Keywords:minigene
 
Citation line:Aznarez, I., E. M. Chan, J. Zielenski, B. J. Blencowe, and L. C. Tsui. 2003., Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene. Hum.Mol.Genet. 12:2031-2040.
PubMed ID:12913074
 
Comments:Increased expression of TRA2A decreased the aberrant splicing of exon 13 caused by two exonic splicing mutations, E656X and 2108delA. SFRS1 exacerbated the effect of D651N, E664X and T665S mutations on the splicing of exon 13. That opposite effects were observed for SFRS1 and TRA2A argues that their effects are specific and not a general consequence of over-expression of splicing factors
(activated in workbench):Y
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