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| ASPsiRNA information |
siRNA Id: | aspsirna0931
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siRNA Name: | MJD4
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| Mismatch information |
Wild siRNA (As strand 3'->5'): | CGUCGUCGUCGUCCCCCUG
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ASP-siRNA (As strand 3'->5'): | CGUCGUCGUCGUCGCCCUG
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Mismatch position in siRNA: | G6C |
| Gene Information |
Gene Name | Ataxin-3 (ATXN3) |
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Target Sequence (5'->3'): | CAGCAGCAGCAGCAGCAGCAGGGGGACCUAUCAGGA
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Wild allele (5'->3'): | GCAGCAGCAGCAGGGGGAC
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Mutant allele (5'->3'): | GCAGCAGCAGCAGCGGGAC
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Position of siRNA on target gene: | 289-307
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| 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 |
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Reference SNp(RefSNP): | rs19392292 |
| Disease/Mutation information |
Target Mutation: | c.209_211CAG(8_36),(p.Gln298_Gln305=)
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Matation type/variant: | Microsatellite/missense variant
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Mutation at gene level: | NG_008198.2:g.40588_40590CAG(8_36)
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Pathogenic status of mutation: | Disease causing expanded CAG repeats
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Disease: | Machado-Joseph Disease (MJD)/Spinocerebellar ataxia type 3 (SCA3) |
| Clinical Resources |
ClinVar ID: | 3551 |
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KEGG disease ID: | H00063 |
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OMIM ID: | 109150 |
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COSMIC: | ATXN3 |
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DECIPHER: | ATXN3 |
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GeneTests: | ATXN3 |
| ASP siRNA details |
Mutant allele (5'->3'): | GCAGCAGCAGCAGCGGGAC
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ASP-siRNA (As strand 3'->5'): | CGUCGUCGUCGUCGCCCUG
|
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Percentage efficacy of ASP-siRNA for mutant allele: | 80
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Wild allele (5'->3'): | GCAGCAGCAGCAGGGGGAC
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ASP-siRNA (As strand 3'->5'): | CGUCGUCGUCGUCGCCCUG
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Percentage efficacy of ASP-siRNA for wild allele: | 80
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Relative difference: | 0
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| Wild siRNA details |
Wild allele (5'->3'): | GCAGCAGCAGCAGGGGGAC
|
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Wild siRNA (As strand 3'->5'): | CGUCGUCGUCGUCCCCCUG
|
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Percentage efficacy of wild siRNA for wild allele: | NA
|
|
Wild allele (5'->3'): | GCAGCAGCAGCAGGGGGAC
|
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ASP-siRNA (As strand 3'->5'): | CGUCGUCGUCGUCGCCCUG
|
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Percentage efficacy of Wild sirna for mutant allele: | NA
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Relative difference : | NA
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA
|
| Cell-line used: | 293T |
| Experimental technique used: | Western blot |
| Transfection method: | Lipofectamine Plus |
| siRNA expression method: | Chemically synthesized |
| Post-transfection duration: | 48 hours |
| Concentration used: | 10nM |
| Reference: | 15236410 |
| Delivery method: | Transfection |
| Article title: | Sequence-dependent and independent inhibition specific for mutant ataxin-3 by small interfering RNA |
| Authors: | Li Y, Yokota T, Matsumura R, Taira K, Mizusawa H |
| Journal Reference: | Ann Neurol. 2004 Jul;56(1):124-9 |
