| | |
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| ASPsiRNA information |
siRNA Id: | aspsirna0700
|
|
siRNA Name: | G16
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | UCUAAACCUGGUCCGUCAG
|
|
ASP-siRNA (As strand 3'->5'): | UCUGAACCUGGUCCGUCAG
|
|
Mismatch position in siRNA: | G16A |
| Gene Information |
Gene Name | Hungtintin (HTT) |
|
Target Sequence (5'->3'): | GCAAACCCUGACCGCAGUGCGGGGCAUUGG
|
|
Wild allele (5'->3'): | AGAUUUGGACCAGGCAGUC
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|
Mutant allele (5'->3'): | AGACUUGGACCAGGCAGUC
|
|
Position of siRNA on target gene: | NA
|
| 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 |
|
Reference SNp(RefSNP): | rs19392295 |
| 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
|
|
Disease: | Huntington disease (HD) |
| Clinical Resources |
ClinVar ID: | 31916 |
|
KEGG disease ID: | H00059 |
|
OMIM ID: | 143100 |
|
COSMIC: | HTT |
|
DECIPHER: | HTT |
|
GeneTests: | HTT |
| ASP siRNA details |
Mutant allele (5'->3'): | AGACUUGGACCAGGCAGUC
|
|
ASP-siRNA (As strand 3'->5'): | UCUGAACCUGGUCCGUCAG
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 10
|
|
Wild allele (5'->3'): | AGAUUUGGACCAGGCAGUC
|
|
ASP-siRNA (As strand 3'->5'): | UCUGAACCUGGUCCGUCAG
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 48
|
|
Relative difference: | -38
|
| Wild siRNA details |
Wild allele (5'->3'): | AGAUUUGGACCAGGCAGUC
|
|
Wild siRNA (As strand 3'->5'): | UCUAAACCUGGUCCGUCAG
|
|
Percentage efficacy of wild siRNA for wild allele: | 60
|
|
Wild allele (5'->3'): | AGAUUUGGACCAGGCAGUC
|
|
ASP-siRNA (As strand 3'->5'): | UCUGAACCUGGUCCGUCAG
|
|
Percentage efficacy of Wild sirna for mutant allele: | 15
|
|
Relative difference : | 45
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | Fibroblast |
| Experimental technique used: | Western blot |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Metabion |
| Post-transfection duration: | 72 hours |
| Concentration used: | 50nM |
| Reference: | 22397573 |
| Delivery method: | Transfection |
'| Article title: | An evaluation of oligonucleotide-based therapeutic strategies for polyQ diseases. |
'| Authors: | Fiszer A, Olejniczak M, Switonski PM, Wroblewska JP, Wisniewska-Kruk J, Mykowska A, Krzyzosiak WJ. |
'| Journal Reference: | BMC Mol Biol. 2012 Mar 7;13:6. doi: 10.1186/1471-2199-13-6. |
'
