ASD - ALTERNATIVE SPLICING


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FIELD NAME
FIELD VALUE
  
AEdbMotif ID:363
Internal ref. ID:124-2004
Submitter name:SHAOQING HUANG
Entry date:06-SEP-2005 20:07:44
 
Regulatory sequence name:presenilin 2, exon 5
Entry type:Exon enhancer
Sequence origin:Exonic
Organism:Homo sapiens, human
Binding factors:SR protein
 
EMBL/Genbank/DDBJ/RefSeq Accession number:NM_012486
Ensembl ID:ENSG00000143801
AEdb ID:
Sequence:GGTGGGCCAGCGCCTCC
Mutated regulatory sequence:
 
Methods:Deletion analysis
Mutagenesis
Keywords:exon 5,cis-acting element,presenilin 2,stem-loop,sec 2
 
Citation line:Higashide S, Morikawa K, Okumura M, Kondo S, Ogata M, Murakami T, Yamashita A, Kanemoto S, Manabe T, Imaizumi K. Identification of regulatory cis-acting elements for alternative splicing of presenilin 2 exon 5 under hypoxic stress conditions. J Neurochem. 2004 Dec;91(5):1191-8.
PubMed ID:15569262
 
Comments:Sec 2 identified in this study is a novel regulatory element for exon 5 splicing under stress conditions, sec 2 could contain a novel regulatory cis-acting element for the aberrant splicing of PS2 exon 5 under hypoxic stress.
(activated in workbench):N
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