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| ASPsiRNA information |
siRNA Id: | aspsirna3542
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siRNA Name: | siC7
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | GUCGUCCCCCUGGAUAGUCCUG
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ASP-siRNA (As strand 3'->5'): | GUCGUCGCCCUGGAUAGUCCUG
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|
Mismatch position in siRNA: | G16C |
| Gene Information |
Gene Name | Ataxin-3 (ATXN3) |
|
Target Sequence (5'->3'): | CAGCAGCAGCAGGGGGACCTATCAGGAC
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Wild allele (5'->3'): | CAGCAGGGGGACCUAUCAGGAC
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Mutant allele (5'->3'): | CAGCAGCGGGACCUAUCAGGAC
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Position of siRNA on target gene: | 979-1000
|
| 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): | rs19392292 |
| Disease/Mutation information |
Target Mutation: | c.G987C,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: | Disease causing trinucleotide 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'): | CAGCAGCGGGACCUAUCAGGAC
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ASP-siRNA (As strand 3'->5'): | GUCGUCGCCCUGGAUAGUCCUG
|
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Percentage efficacy of ASP-siRNA for mutant allele: | 55
|
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Wild allele (5'->3'): | CAGCAGGGGGACCUAUCAGGAC
|
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ASP-siRNA (As strand 3'->5'): | GUCGUCGCCCUGGAUAGUCCUG
|
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Percentage efficacy of ASP-siRNA for wild allele: | 0
|
|
Relative difference: | 55
|
| Wild siRNA details |
Wild allele (5'->3'): | CAGCAGGGGGACCUAUCAGGAC
|
|
Wild siRNA (As strand 3'->5'): | GUCGUCCCCCUGGAUAGUCCUG
|
|
Percentage efficacy of wild siRNA for wild allele: | 49
|
|
Wild allele (5'->3'): | CAGCAGGGGGACCUAUCAGGAC
|
|
ASP-siRNA (As strand 3'->5'): | GUCGUCGCCCUGGAUAGUCCUG
|
|
Percentage efficacy of Wild sirna for mutant allele: | 20
|
|
Relative difference : | 29
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | Cos-7 |
| Experimental technique used: | Western blot |
| Transfection method: | Lipofectamine Plus |
| siRNA expression method: | Integrated DNA Technologies |
| Post-transfection duration: | 24-48 hours |
| Concentration used: | 5mg |
| Reference: | US20080176812A1 |
| Delivery method: | Adenovirus associated shRNA delivery |
'| Article title: | Allele-specific silencing of disease genes. |
'| Authors: | Davidson Beverly L, Harper Scott, Gonzalez-Alegre Pedro,Miller Victor, Paulson Henry |
'| Journal Reference: | US2008/0176812 A1 |
'
