| | |
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| ASPsiRNA information |
siRNA Id: | aspsirna0051
|
|
siRNA Name: | p16A
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | UAGAUGACACACGUGAAGU
|
|
Mismatch position in siRNA: | A16G |
| Gene Information |
Gene Name | Hungtintin (HTT) |
|
Target Sequence (5'->3'): | AUCUACUGUGUGCACUUCA
|
|
Wild allele (5'->3'): | NA
|
|
Mutant allele (5'->3'): | AUCUACUGUGUGCACUUCA
|
|
Position of siRNA on target gene: | 7073-7091
|
| 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): | rs362331 |
| Disease/Mutation information |
Target Mutation: | c.6931T>C,c.52CAG(36_39)
|
|
Matation type/variant: | Single nucleotide variant/Missense variant/Microsatellite
|
|
Mutation at gene level: | NG_009378.1:g.144434T>C,NG_009378.1:g.5197CAG(36_39)
|
|
Pathogenic status of mutation: | Pathogenic
|
|
Disease: | Huntington disease (HD) |
| Clinical Resources |
ClinVar ID: | 31916 |
|
KEGG disease ID: | H01243 |
|
OMIM ID: | 143100 |
|
COSMIC: | HTT |
|
DECIPHER: | HTT |
|
GeneTests: | HTT |
| ASP siRNA details |
Mutant allele (5'->3'): | AUCUACUGUGUGCACUUCA
|
|
ASP-siRNA (As strand 3'->5'): | UAGAUGACACACGUGAAGU
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 78
|
|
Wild allele (5'->3'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | UAGAUGACACACGUGAAGU
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 35
|
|
Relative difference: | 43
|
| Wild siRNA details |
Wild allele (5'->3'): | NA
|
|
Wild siRNA (As strand 3'->5'): | NA
|
|
Percentage efficacy of wild siRNA for wild allele: | 80
|
|
Wild allele (5'->3'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | UAGAUGACACACGUGAAGU
|
|
Percentage efficacy of Wild sirna for mutant allele: | 30
|
|
Relative difference : | 50
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | Fibroblast |
| Experimental technique used: | Dual luciferase reporter assay |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Dharmacon |
| Post-transfection duration: | 48 hours |
| Concentration used: | 10pmol |
| Reference: | 19289118 |
| Delivery method: | Transfection |
'| Article title: | A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference. |
'| Authors: | Lombardi MS, Jaspers L, Spronkmans C, Gellera C, Taroni F, Di Maria E, Donato SD, Kaemmerer WF. |
'| Journal Reference: | Exp Neurol. 2009 Jun;217(2):312-9. doi: 10.1016/j.expneurol.2009.03.004. Epub 2009 Mar 13. |
'
