| | |
|---|
| ASPsiRNA information |
siRNA Id: | aspsirna0656
|
|
siRNA Name: | ShAtx-3
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | CUAUCCAGGGGGACGACGA
|
|
ASP-siRNA (As strand 3'->5'): | CUAUCCAGGGCGACGACGA
|
|
Mismatch position in siRNA: | C9G |
| Gene Information |
Gene Name | Ataxin-3 (ATXN3) |
|
Target Sequence (5'->3'): | CAGCAAAAGCAGCAACAGCAGCAGCAGCAGCAGCA
|
|
Wild allele (5'->3'): | GAUAGGUCCCCCUGCUGCU
|
|
Mutant allele (5'->3'): | GAUAGGUCCCGCUGCUGCU
|
|
Position of siRNA on target gene: | NA
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_004993.5 |
| Cytogenic location: | 14q32.12 |
| Chromosomal coordinates: | 14:92,524,895-92,572,964 |
| UniProt ID: | P54252 |
| HUGO ID: | 7106 |
|
Reference SNp(RefSNP): | rs19392292 |
| Disease/Mutation information |
Target Mutation: | c.892_894CAG(8_36),(p.Gln298_Gln305=)
|
|
Matation type/variant: | Microsatellite
|
|
Mutation at gene level: | NG_008198.2:g.40588_40590CAG(8_36)
|
|
Pathogenic status of mutation: | Pathogenic
|
|
Disease: | Machado-Joseph Disease (MJD)/Spinocerebellar ataxia type 3 (SCA3) |
| Clinical Resources |
ClinVar ID: | 3551 |
|
KEGG disease ID: | H00063 |
|
OMIM ID: | 109150 |
|
COSMIC: | ATXN3 |
|
DECIPHER: | ATXN3 |
|
GeneTests: | ATXN3 |
| ASP siRNA details |
Mutant allele (5'->3'): | GAUAGGUCCCGCUGCUGCU
|
|
ASP-siRNA (As strand 3'->5'): | CUAUCCAGGGCGACGACGA
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 25
|
|
Wild allele (5'->3'): | GAUAGGUCCCCCUGCUGCU
|
|
ASP-siRNA (As strand 3'->5'): | CUAUCCAGGGCGACGACGA
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 50
|
|
Relative difference: | -25
|
| Wild siRNA details |
Wild allele (5'->3'): | GAUAGGUCCCCCUGCUGCU
|
|
Wild siRNA (As strand 3'->5'): | CUAUCCAGGGGGACGACGA
|
|
Percentage efficacy of wild siRNA for wild allele: | NA
|
|
Wild allele (5'->3'): | GAUAGGUCCCCCUGCUGCU
|
|
ASP-siRNA (As strand 3'->5'): | CUAUCCAGGGCGACGACGA
|
|
Percentage efficacy of Wild sirna for mutant allele: | NA
|
|
Relative difference : | NA
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | Cerebellum of C57/BL6 mice |
| Experimental technique used: | Western blot |
| Transfection method: | Lipofectamine 2,000 |
| siRNA expression method: | Invitrogen |
| Post-transfection duration: | 10 weeks post injection period |
| Concentration used: | 6microM |
| Reference: | 23349684 |
| Delivery method: | Transfection |
'| Article title: | Silencing mutant ataxin-3 rescues motor deficits and neuropathology in Machado-Joseph disease transgenic mice |
'| Authors: | Nóbrega C, Nascimento-Ferreira I, Onofre I, Albuquerque D, Hirai H, Déglon N, de Almeida LP |
'| Journal Reference: | PLoS One. 2013;8(1):e52396. doi: 10.1371/journal.pone.0052396. Epub 2013 Jan 22 |
'
