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| ASPsiRNA information |
siRNA Id: | aspsirna0704
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|
siRNA Name: | G16
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | UCGACUCUCGUCGGCCGAC
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ASP-siRNA (As strand 3'->5'): | UCGGCUCUCGUCGGCCGAC
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|
Mismatch position in siRNA: | G16A(As),U1G(S) |
| Gene Information |
Gene Name | Ataxin-1 (ATXN1) |
|
Target Sequence (5'->3'): | CACCAAGAAAGCTGAGAGCAGCCGGCT
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Wild allele (5'->3'): | AGCUGAGAGCAGCCGGCUG
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Mutant allele (5'->3'): | AGCCGAGAGCAGCCGGCUU
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Position of siRNA on target gene: | 1895-1913
|
| 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
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Matation type/variant: | Microsatellite
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Mutation at gene level: | NG_011571.1:g.438769_438771CAG(36_38)
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Pathogenic status of mutation: | Pathogenic
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Disease: | Spino Cerebellar Ataxia type-1 (SCA-1) |
| Clinical Resources |
ClinVar ID: | 8071 |
|
KEGG disease ID: | H00063 |
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OMIM ID: | 302500 |
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COSMIC: | ATXN1 |
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DECIPHER: | ATXN1 |
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GeneTests: | ATXN1 |
| ASP siRNA details |
Mutant allele (5'->3'): | AGCCGAGAGCAGCCGGCUU
|
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ASP-siRNA (As strand 3'->5'): | UCGGCUCUCGUCGGCCGAC
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 47
|
|
Wild allele (5'->3'): | AGCUGAGAGCAGCCGGCUG
|
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ASP-siRNA (As strand 3'->5'): | UCGGCUCUCGUCGGCCGAC
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 78
|
|
Relative difference: | -31
|
| Wild siRNA details |
Wild allele (5'->3'): | AGCUGAGAGCAGCCGGCUG
|
|
Wild siRNA (As strand 3'->5'): | UCGACUCUCGUCGGCCGAC
|
|
Percentage efficacy of wild siRNA for wild allele: | 60
|
|
Wild allele (5'->3'): | AGCUGAGAGCAGCCGGCUG
|
|
ASP-siRNA (As strand 3'->5'): | UCGGCUCUCGUCGGCCGAC
|
|
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. |
'
