| | |
ASPsiRNA information |
siRNA Id: | aspsirna0845
|
siRNA Name: | P2+P10_rs362273
|
Mismatch information |
Wild siRNA (As strand 3'->5'): | UUCGACGACGACGUCUAGUUU
|
ASP-siRNA (As strand 3'->5'): | UUCGACGACGAUGUCUAGUCU
|
Mismatch position in siRNA: | C2U,U10C |
Gene Information |
Gene Name | Hungtintin (HTT) |
Target Sequence (5'->3'): | GTCTGCGCCCTTGTGCCCTGCCTCCA
|
Wild allele (5'->3'): | AAGCUGCUGCUGCAGAUCAAA
|
Mutant allele (5'->3'): | AAGCUGCUGCUACAGAUCAGA
|
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): | rs362273 |
Disease/Mutation information |
Target Mutation: | c.52CAG(36_39)
|
Matation type/variant: | Microsatellite
|
Mutation at gene level: | NG_009378.1:g.5197CAG(36_39)
|
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'): | AAGCUGCUGCUACAGAUCAGA
|
ASP-siRNA (As strand 3'->5'): | UUCGACGACGAUGUCUAGUCU
|
Percentage efficacy of ASP-siRNA for mutant allele: | NA
|
Wild allele (5'->3'): | AAGCUGCUGCUGCAGAUCAAA
|
ASP-siRNA (As strand 3'->5'): | UUCGACGACGAUGUCUAGUCU
|
Percentage efficacy of ASP-siRNA for wild allele: | NA
|
Relative difference: | NA
|
Wild siRNA details |
Wild allele (5'->3'): | AAGCUGCUGCUGCAGAUCAAA
|
Wild siRNA (As strand 3'->5'): | UUCGACGACGACGUCUAGUUU
|
Percentage efficacy of wild siRNA for wild allele: | 40
|
Wild allele (5'->3'): | AAGCUGCUGCUGCAGAUCAAA
|
ASP-siRNA (As strand 3'->5'): | UUCGACGACGAUGUCUAGUCU
|
Percentage efficacy of Wild sirna for mutant allele: | 12
|
Relative difference : | 28
|
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. |
'