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| ASPsiRNA information |
siRNA Id: | aspsirna0693
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siRNA Name: | G12
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | CGUCGUCCCCCUGGAUAGU
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ASP-siRNA (As strand 3'->5'): | CGUCGUCGCCCUGGAUAGU
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|
Mismatch position in siRNA: | G12C |
| Gene Information |
Gene Name | Ataxin-3 (ATXN3) |
|
Target Sequence (5'->3'): | CAGCAGCAGCAGGGGGACCUAUCAGG
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Wild allele (5'->3'): | GCAGCAGGGGGACCUAUCA
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Mutant allele (5'->3'): | GCAGCAGCGGGACCUAUCA
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|
Position of siRNA on target gene: | 978-996
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_004993.5 |
| Cytogenic location: | 14q32.12 |
| Chromosomal coordinates: | 14:92,524,895-92,572,964 |
| UniProt ID: | P54252 |
| HUGO ID: | 7106 |
|
Reference SNp(RefSNP): | rs12895357 |
| Disease/Mutation information |
Target Mutation: | c.892_894CAG(8_36) (p.Gln298_Gln305=)
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Matation type/variant: | Microsatellite
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Mutation at gene level: | NG_008198.2:g.40588_40590CAG(8_36)
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Pathogenic status of mutation: | Pathogenic
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Disease: | Spino Cerebellar Ataxia type-3 (SCA-3) |
| Clinical Resources |
ClinVar ID: | 3551 |
|
KEGG disease ID: | H00063 |
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OMIM ID: | 109150 |
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COSMIC: | ATXN3 |
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DECIPHER: | ATXN3 |
|
GeneTests: | ATXN3 |
| ASP siRNA details |
Mutant allele (5'->3'): | GCAGCAGCGGGACCUAUCA
|
|
ASP-siRNA (As strand 3'->5'): | CGUCGUCGCCCUGGAUAGU
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 70
|
|
Wild allele (5'->3'): | GCAGCAGGGGGACCUAUCA
|
|
ASP-siRNA (As strand 3'->5'): | CGUCGUCGCCCUGGAUAGU
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 50
|
|
Relative difference: | 20
|
| Wild siRNA details |
Wild allele (5'->3'): | GCAGCAGGGGGACCUAUCA
|
|
Wild siRNA (As strand 3'->5'): | CGUCGUCCCCCUGGAUAGU
|
|
Percentage efficacy of wild siRNA for wild allele: | 60
|
|
Wild allele (5'->3'): | GCAGCAGGGGGACCUAUCA
|
|
ASP-siRNA (As strand 3'->5'): | CGUCGUCGCCCUGGAUAGU
|
|
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: | Western blot |
| 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. |
'
