| | |
|---|
| ASPsiRNA information |
siRNA Id: | aspsirna0972
|
|
siRNA Name: | d7
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | GUCGUCGUCGUCGUCGUCGUC
|
|
Mismatch position in siRNA: | NA |
| Gene Information |
Gene Name | Ataxin-1 (ATXN1) |
|
Target Sequence (5'->3'): | AGGCTGAGCAGCAGCAGCAGCAGCAGCAGC
|
|
Wild allele (5'->3'): | NA
|
|
Mutant allele (5'->3'): | CAGCAGCAGCAGCAGCAGCAG
|
|
Position of siRNA on target gene: | 1511-1531
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_001128164.1 |
| Cytogenic location: | 6p22.3 |
| Chromosomal coordinates: | 6:16,299,342-16,761,720 |
| UniProt ID: | P0C7T5 |
| HUGO ID: | 10548 |
|
Reference SNp(RefSNP): | rs19392292 |
| Disease/Mutation information |
Target Mutation: | c.589_591CAG(36_38)
|
|
Matation type/variant: | Microsatellite/synonymous variant
|
|
Mutation at gene level: | NG_011571.1:g.438769_438771CAG(36_38)
|
|
Pathogenic status of mutation: | Pathogenic
|
|
Disease: | Spino Cerebellar Ataxia type-1 (SCA-1) |
| Clinical Resources |
ClinVar ID: | 8071 |
|
KEGG disease ID: | H00056 |
|
OMIM ID: | 64400 |
|
COSMIC: | ATXN1 |
|
DECIPHER: | ATXN1 |
|
GeneTests: | ATXN1 |
| ASP siRNA details |
Mutant allele (5'->3'): | CAGCAGCAGCAGCAGCAGCAG
|
|
ASP-siRNA (As strand 3'->5'): | GUCGUCGUCGUCGUCGUCGUC
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 50
|
|
Wild allele (5'->3'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | GUCGUCGUCGUCGUCGUCGUC
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 39
|
|
Relative difference: | 11
|
| Wild siRNA details |
Wild allele (5'->3'): | NA
|
|
Wild siRNA (As strand 3'->5'): | NA
|
|
Percentage efficacy of wild siRNA for wild allele: | NA
|
|
Wild allele (5'->3'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | GUCGUCGUCGUCGUCGUCGUC
|
|
Percentage efficacy of Wild sirna for mutant allele: | NA
|
|
Relative difference : | NA
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA
|
| Cell-line used: | Fibroblast |
| Experimental technique used: | RT-PCR |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Metabion |
| Post-transfection duration: | 24 hours |
| Concentration used: | 20nM |
| Reference: | 21427085 |
| Delivery method: | Transfection |
| Article title: | Inhibition of mutant huntingtin expression by RNA duplex targeting expanded CAG repeats. |
| Authors: | Fiszer A, Mykowska A, Krzyzosiak WJ. |
| Journal Reference: | Nucleic Acids Res. 2011 Jul;39(13):5578-85. doi: 10.1093/nar/gkr156. Epub 2011 Mar 22. |
