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| ASPsiRNA information |
siRNA Id: | aspsirna0833
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siRNA Name: | P16+P17_rs362307
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| Mismatch information |
Wild siRNA (As strand 3'->5'): | CAGACGCGGGAACACGGGACG
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ASP-siRNA (As strand 3'->5'): | CAGAUACGGGAACACGGGACG
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Mismatch position in siRNA: | U17C,A16G |
| Gene Information |
Gene Name | Hungtintin (HTT) |
|
Target Sequence (5'->3'): | GTCTGCGCCCTTGTGCCCTGCCTCCA
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Wild allele (5'->3'): | GUCUGCGCCCUUGUGCCCUGC
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Mutant allele (5'->3'): | GUCUAUGCCCUUGUGCCCUGC
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Position of siRNA on target gene: | 9805-9825
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| Respective Gene/Protein Resources |
GenBank Accession: | NM_002111.7 |
| Cytogenic location: | 4p16.3 |
| Chromosomal coordinates: | 4:3,076,407-3,245,686 |
| UniProt ID: | Q96CV9 |
| HUGO ID: | 4851 |
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Reference SNp(RefSNP): | rs362307 |
| Disease/Mutation information |
Target Mutation: | c.52CAG(36_39)
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Matation type/variant: | Microsatellite
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Mutation at gene level: | NG_009378.1:g.5197CAG(36_39)
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Pathogenic status of mutation: | Pathogenic
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Disease: | Huntington disease (HD) |
| Clinical Resources |
ClinVar ID: | 31916 |
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KEGG disease ID: | H00059 |
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OMIM ID: | 143100 |
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COSMIC: | HTT |
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DECIPHER: | HTT |
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GeneTests: | HTT |
| ASP siRNA details |
Mutant allele (5'->3'): | GUCUAUGCCCUUGUGCCCUGC
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ASP-siRNA (As strand 3'->5'): | CAGAUACGGGAACACGGGACG
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Percentage efficacy of ASP-siRNA for mutant allele: | 76
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Wild allele (5'->3'): | GUCUGCGCCCUUGUGCCCUGC
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ASP-siRNA (As strand 3'->5'): | CAGAUACGGGAACACGGGACG
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Percentage efficacy of ASP-siRNA for wild allele: | 16
|
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Relative difference: | 60
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| Wild siRNA details |
Wild allele (5'->3'): | GUCUGCGCCCUUGUGCCCUGC
|
|
Wild siRNA (As strand 3'->5'): | CAGACGCGGGAACACGGGACG
|
|
Percentage efficacy of wild siRNA for wild allele: | 40
|
|
Wild allele (5'->3'): | GUCUGCGCCCUUGUGCCCUGC
|
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ASP-siRNA (As strand 3'->5'): | CAGAUACGGGAACACGGGACG
|
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Percentage efficacy of Wild sirna for mutant allele: | 12
|
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Relative difference : | 28
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| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | HeLa |
| Experimental technique used: | Dual luciferase reporter assay |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Invitrogen |
| Post-transfection duration: | 48 hours |
| Concentration used: | 20nM |
| Reference: | 19361997 |
| Delivery method: | Transfection |
'| Article title: | Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntington's disease patients. |
'| Authors: | Pfister EL, Kennington L, Straubhaar J, Wagh S, Liu W, DiFiglia M, Landwehrmeyer B, Vonsattel JP, Zamore PD, Aronin N. |
'| Journal Reference: | Curr Biol. 2009 May 12;19(9):774-8. doi: 10.1016/j.cub.2009.03.030. Epub 2009 Apr 9. |
'
