| | |
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| ASPsiRNA information |
siRNA Id: | aspsirna0860
|
|
siRNA Name: | ShR-P14
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | GUCGGCACUUGUUACAGGU
|
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ASP-siRNA (As strand 3'->5'): | GUCGGUACUUGUUACAGGU
|
|
Mismatch position in siRNA: | U14C |
| Gene Information |
Gene Name | Ataxin-7(ATXN7) |
|
Target Sequence (5'->3'): | AGGUUGCCAAAGUGCCAGCCGUGAACAAUGUCCACAUGA
|
|
Wild allele (5'->3'): | CAGCCGUGAACAAUGUCCA
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Mutant allele (5'->3'): | CAGCCAUGAACAAUGUCCA
|
|
Position of siRNA on target gene: | 3132-3150
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM000333.3 |
| Cytogenic location: | 3p14.1 |
| Chromosomal coordinates: | 3:63,849,784-63,989,239 |
| UniProt ID: | O15265 |
| HUGO ID: | 10560 |
|
Reference SNp(RefSNP): | rs193922929 |
| Disease/Mutation information |
Target Mutation: | c.88_90CAG(7_17)
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Matation type/variant: | Microsatellite
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Mutation at gene level: | NG_008227.1:g.53130_53132CAG(7_17)
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Pathogenic status of mutation: | Pathogenic
|
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Disease: | Spino Cerebellar Ataxia type-7 (SCA-7) |
| Clinical Resources |
ClinVar ID: | 2953 |
|
KEGG disease ID: | H00063 |
|
OMIM ID: | 164500 |
|
COSMIC: | ATXN7 |
|
DECIPHER: | ATXN7 |
|
GeneTests: | ATXN7 |
| ASP siRNA details |
Mutant allele (5'->3'): | CAGCCAUGAACAAUGUCCA
|
|
ASP-siRNA (As strand 3'->5'): | GUCGGUACUUGUUACAGGU
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | NA
|
|
Wild allele (5'->3'): | CAGCCGUGAACAAUGUCCA
|
|
ASP-siRNA (As strand 3'->5'): | GUCGGUACUUGUUACAGGU
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 10
|
|
Relative difference: | NA
|
| Wild siRNA details |
Wild allele (5'->3'): | CAGCCGUGAACAAUGUCCA
|
|
Wild siRNA (As strand 3'->5'): | GUCGGCACUUGUUACAGGU
|
|
Percentage efficacy of wild siRNA for wild allele: | 49
|
|
Wild allele (5'->3'): | CAGCCGUGAACAAUGUCCA
|
|
ASP-siRNA (As strand 3'->5'): | GUCGGUACUUGUUACAGGU
|
|
Percentage efficacy of Wild sirna for mutant allele: | 20
|
|
Relative difference : | 29
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | HEK293 |
| Experimental technique used: | Dual luciferase reporter assay |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Constructed by PCR |
| Post-transfection duration: | 48 hours |
| Concentration used: | 50nM |
| Reference: | 19789634 |
| Delivery method: | Transfection |
'| Article title: | Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype. |
'| Authors: | Scholefield J, Greenberg LJ, Weinberg MS, Arbuthnot PB, Abdelgany A, Wood MJ. |
'| Journal Reference: | PLoS One. 2009 Sep 30;4(9):e7232. doi: 10.1371/journal.pone.0007232. |
'
