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| ASPsiRNA information |
siRNA Id: | aspsirna3042
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siRNA Name: | RM4
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | GUCGUCGUCGUCGUCGUCG
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ASP-siRNA (As strand 3'->5'): | GUUGUCAUCGUUGUCGACG
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Mismatch position in siRNA: | A3U, U8C, A13G, U17C |
| Gene Information |
Gene Name | Ataxin-3 (ATXN3) |
|
Target Sequence (5'->3'): | CAGCAGCAGCAGCAGCAGCAGCAGGGGGACCTATCAGGACAGAGTT
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Wild allele (5'->3'): | CAGCAGCAGCAGCAGCAGC
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Mutant allele (5'->3'): | CAACAGUAGCAACAGCUGC
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Position of siRNA on target gene: | 961-979
|
| 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.892_894CAG(8_36) (p.Gln298_Gln305=)
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Matation type/variant: | Microsatellite/synonymous 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: | Pathogenic
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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'): | CAACAGUAGCAACAGCUGC
|
|
ASP-siRNA (As strand 3'->5'): | GUUGUCAUCGUUGUCGACG
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 87
|
|
Wild allele (5'->3'): | CAGCAGCAGCAGCAGCAGC
|
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ASP-siRNA (As strand 3'->5'): | GUUGUCAUCGUUGUCGACG
|
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Percentage efficacy of ASP-siRNA for wild allele: | 78
|
|
Relative difference: | 9
|
| Wild siRNA details |
Wild allele (5'->3'): | CAGCAGCAGCAGCAGCAGC
|
|
Wild siRNA (As strand 3'->5'): | GUCGUCGUCGUCGUCGUCG
|
|
Percentage efficacy of wild siRNA for wild allele: | 70
|
|
Wild allele (5'->3'): | CAGCAGCAGCAGCAGCAGC
|
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ASP-siRNA (As strand 3'->5'): | GUUGUCAUCGUUGUCGACG
|
|
Percentage efficacy of Wild sirna for mutant allele: | 50
|
|
Relative difference : | 20
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | Fibroblast |
| Experimental technique used: | Western blot |
| Transfection method: | RNAiMAX |
| siRNA expression method: | Integrated DNA Technologies |
| Post-transfection duration: | 24 hours |
| Concentration used: | 12nM |
| Reference: | 21294677 |
| Delivery method: | Transfection |
'| Article title: | Allele-selective inhibition of ataxin-3 (ATX3) expression by antisense oligomers and duplex RNAs |
'| Authors: | Hu J, Gagnon KT, Liu J, Watts JK, Syeda-Nawaz J, Bennett CF, Swayze EE, Randolph J, Chattopadhyaya J, Corey DR |
'| Journal Reference: | Biol Chem. 2011 Apr;392(4):315-25. doi: 10.1515/BC.2011.045. Epub 2011 Feb 7 |
'
