ASD - ALTERNATIVE SPLICING


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FIELD NAME
FIELD VALUE
  
AEdbMotif ID:143
Internal ref. ID:790b
Submitter name:JIANG WEI
Entry date:24-SEP-2004 11:47:13
 
Regulatory sequence name:gh1:growth hormone 1, intron3
Entry type:Intron enhancer
Sequence origin:Intronic
Organism:Homo sapiens, human
Binding factors:
 
EMBL/Genbank/DDBJ/RefSeq Accession number:NM_000515
Ensembl ID:ENSG00000189162
AEdb ID:
Sequence:GGGGAT
Mutated regulatory sequence:
 
Methods:Mutagenesis
Keywords:human growth hormone,metabolism,inborn errors,dna mutational analysis,disease models
 
Citation line:Ryther, R. C.; McGuinness, L. M.; Phillips, J. A., 3rd; Moseley, C. T.; Magoulas, C. B.; Robinson, I. C.; Patton, J. G.(2003)"Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II" Hum Genet. 2003 Jul;113(2):140-8. Epub 2003 Apr 29.
PubMed ID:12720086
 
Comments:Most of the known mutations responsible for IGHD II cause aberrant splicing of GH1 transcripts. This mutation consists an intronic single base pair substitution (IVS3+28 G A).
(activated in workbench):Y
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