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| ASPsiRNA information |
siRNA Id: | aspsirna0344
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siRNA Name: | SEQUENCE2
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | CUUCUCCUCCUCCUCCGGCUGCGG
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ASP-siRNA (As strand 3'->5'): | CUUCUCCUCCUC---CGGCUGCGG
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Mismatch position in siRNA: | NA |
| Gene Information |
Gene Name | Hungtintin (HTT) |
|
Target Sequence (5'->3'): | GACGAGGAAGAGGAGGAGGAGGCCGACGCCC
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Wild allele (5'->3'): | GAAGAGGAGGAGGAGGCCGACGCC
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Mutant allele (5'->3'): | GAAGAGGAGGAG---GCCGACGCC
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Position of siRNA on target gene: | 8066-8089
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_002111.6 |
| Cytogenic location: | 4p16.3 |
| Chromosomal coordinates: | 4:3,076,407-3,245,686 |
| UniProt ID: | Q96CV9 |
| HUGO ID: | 4851 |
|
Reference SNp(RefSNP): | rs19392295 |
| Disease/Mutation information |
Target Mutation: | c.52CAG(36_39)
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Matation type/variant: | Microsatellite/Deletion
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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: | H01243 |
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OMIM ID: | 143100 |
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COSMIC: | HTT |
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DECIPHER: | HTT |
|
GeneTests: | HTT |
| ASP siRNA details |
Mutant allele (5'->3'): | GAAGAGGAGGAG---GCCGACGCC
|
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ASP-siRNA (As strand 3'->5'): | CUUCUCCUCCUC---CGGCUGCGG
|
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Percentage efficacy of ASP-siRNA for mutant allele: | 79
|
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Wild allele (5'->3'): | GAAGAGGAGGAGGAGGCCGACGCC
|
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ASP-siRNA (As strand 3'->5'): | CUUCUCCUCCUC---CGGCUGCGG
|
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Percentage efficacy of ASP-siRNA for wild allele: | 0
|
|
Relative difference: | 79
|
| Wild siRNA details |
Wild allele (5'->3'): | GAAGAGGAGGAGGAGGCCGACGCC
|
|
Wild siRNA (As strand 3'->5'): | CUUCUCCUCCUCCUCCGGCUGCGG
|
|
Percentage efficacy of wild siRNA for wild allele: | 33
|
|
Wild allele (5'->3'): | GAAGAGGAGGAGGAGGCCGACGCC
|
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ASP-siRNA (As strand 3'->5'): | CUUCUCCUCCUC---CGGCUGCGG
|
|
Percentage efficacy of Wild sirna for mutant allele: | 18
|
|
Relative difference : | 15
|
| General information |
Mismatch incorporated in siRNA/Target: | nil
|
| Cell-line used: | Fibroblast |
| Experimental technique used: | Dual luciferase reporter assay |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Dharmacon |
| Post-transfection duration: | 40 hours |
| Concentration used: | 20nM |
| Reference: | 19094060 |
| Delivery method: | Transfection |
| Article title: | Allele-specific silencing of mutant Huntington's disease gene |
| Authors: | Zhang Y, Engelman J, Friedlander RM |
| Journal Reference: | J Neurochem. 2009 Jan;108(1):82-90. doi: 10.1111/j.1471-4159.2008.05734.x |
