| | |
ASPsiRNA information |
siRNA Id: | aspsirna0701
|
siRNA Name: | G9m
|
Mismatch information |
Wild siRNA (As strand 3'->5'): | GGUUCUUUCGACUCUCGUC
|
ASP-siRNA (As strand 3'->5'): | GGUUCUUUCGGCUCUCGUC
|
Mismatch position in siRNA: | G9A(As),U19G(s) |
Gene Information |
Gene Name | Ataxin-1 (ATXN1) |
Target Sequence (5'->3'): | CACCAAGAAAGCTGAGAGCAGCCGGCT
|
Wild allele (5'->3'): | CCAAGAAAGCUGAGAGCAG
|
Mutant allele (5'->3'): | CCAAGAAAGCCGAGAGCAU
|
Position of siRNA on target gene: | 1888-1906
|
Respective Gene/Protein Resources |
GenBank Accession: | NM_000332.3 |
Cytogenic location: | 6p22.3 |
Chromosomal coordinates: | 6:16,299,342-16,761,720 |
UniProt ID: | P0C7T5 |
HUGO ID: | 10548 |
Reference SNp(RefSNP): | rs19392292 |
Disease/Mutation information |
Target Mutation: | c.589_591CAG(36_38),p.Gln208_His209
|
Matation type/variant: | Microsatellite
|
Mutation at gene level: | NG_011571.1:g.438769_438771CAG(36_38)
|
Pathogenic status of mutation: | Pathogenic
|
Disease: | Spino Cerebellar Ataxia type-1 (SCA-1) |
Clinical Resources |
ClinVar ID: | 8071 |
KEGG disease ID: | H00063 |
OMIM ID: | 302500 |
COSMIC: | ATXN1 |
DECIPHER: | ATXN1 |
GeneTests: | ATXN1 |
ASP siRNA details |
Mutant allele (5'->3'): | CCAAGAAAGCCGAGAGCAU
|
ASP-siRNA (As strand 3'->5'): | GGUUCUUUCGGCUCUCGUC
|
Percentage efficacy of ASP-siRNA for mutant allele: | 0
|
Wild allele (5'->3'): | CCAAGAAAGCUGAGAGCAG
|
ASP-siRNA (As strand 3'->5'): | GGUUCUUUCGGCUCUCGUC
|
Percentage efficacy of ASP-siRNA for wild allele: | 24
|
Relative difference: | -24
|
Wild siRNA details |
Wild allele (5'->3'): | CCAAGAAAGCUGAGAGCAG
|
Wild siRNA (As strand 3'->5'): | GGUUCUUUCGACUCUCGUC
|
Percentage efficacy of wild siRNA for wild allele: | 60
|
Wild allele (5'->3'): | CCAAGAAAGCUGAGAGCAG
|
ASP-siRNA (As strand 3'->5'): | GGUUCUUUCGGCUCUCGUC
|
Percentage efficacy of Wild sirna for mutant allele: | 15
|
Relative difference : | 45
|
General information |
Mismatch incorporated in siRNA/Target: | siRNA |
Cell-line used: | Fibroblast |
Experimental technique used: | RT-PCR |
Transfection method: | Lipofectamine 2000 |
siRNA expression method: | Metabion |
Post-transfection duration: | 72 hours |
Concentration used: | 50nM |
Reference: | 22397573 |
Delivery method: | Transfection |
'Article title: | An evaluation of oligonucleotide-based therapeutic strategies for polyQ diseases. |
'Authors: | Fiszer A, Olejniczak M, Switonski PM, Wroblewska JP, Wisniewska-Kruk J, Mykowska A, Krzyzosiak WJ. |
'Journal Reference: | BMC Mol Biol. 2012 Mar 7;13:6. doi: 10.1186/1471-2199-13-6. |
'