| | |
ASPsiRNA information |
siRNA Id: | aspsirna0043
|
siRNA Name: | p11G
|
Mismatch information |
Wild siRNA (As strand 3'->5'): | NA
|
ASP-siRNA (As strand 3'->5'): | CCUGUCAUGAAGUUGCGAU
|
Mismatch position in siRNA: | G11U |
Gene Information |
Gene Name | Hungtintin (HTT) |
Target Sequence (5'->3'): | GGACAGUACUUCAACGCUA
|
Wild allele (5'->3'): | NA
|
Mutant allele (5'->3'): | GGACAGUACUUCAACGCUA
|
Position of siRNA on target gene: | 5302-5320
|
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): | rs363125 |
Disease/Mutation information |
Target Mutation: | c.5165C>A,c.52CAG(36_39)
|
Matation type/variant: | Single nucleotide variant/Missense variant/Microsatellite
|
Mutation at gene level: | NG_009378.1:g.118146C>A,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'): | GGACAGUACUUCAACGCUA
|
ASP-siRNA (As strand 3'->5'): | CCUGUCAUGAAGUUGCGAU
|
Percentage efficacy of ASP-siRNA for mutant allele: | 94
|
Wild allele (5'->3'): | NA
|
ASP-siRNA (As strand 3'->5'): | CCUGUCAUGAAGUUGCGAU
|
Percentage efficacy of ASP-siRNA for wild allele: | 50
|
Relative difference: | 44
|
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'): | CCUGUCAUGAAGUUGCGAU
|
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. |
'