| | |
|---|
| ASPsiRNA information |
siRNA Id: | aspsirna1003
|
|
siRNA Name: | p9wt
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | ACCUCUGAACCCGUUACAC
|
|
Mismatch position in siRNA: | NA |
| Gene Information |
Gene Name | Cu,Zn superoxide dismutase (SOD1) |
|
Target Sequence (5'->3'): | GAGAGGCAUGUUGGAGACUUGGGCAAUGUGACUGCUGACAAAG
|
|
Wild allele (5'->3'): | NA
|
|
Mutant allele (5'->3'): | UGGAGACUUGGGCAAUGUG
|
|
Position of siRNA on target gene: | 394-412
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_000454.4 |
| Cytogenic location: | 21q22.11 |
| Chromosomal coordinates: | 21:33,031,934-33,041,243 |
| UniProt ID: | P00441 |
| HUGO ID: | 11179 |
|
Reference SNp(RefSNP): | rs12191243 |
| Disease/Mutation information |
Target Mutation: | c.256G>C,p.Gly86Arg
|
|
Matation type/variant: | Single nucleotide variant/Missense variant
|
|
Mutation at gene level: | NG_008689.1:g.12653G>C
|
|
Pathogenic status of mutation: | Pathogenic
|
|
Disease: | Amyotrophic Lateral Sclerosis (ALS) |
| Clinical Resources |
ClinVar ID: | 14758 |
|
KEGG disease ID: | H00058 |
|
OMIM ID: | 105400 |
|
COSMIC: | SOD1 |
|
DECIPHER: | SOD1 |
|
GeneTests: | SOD1 |
| ASP siRNA details |
Mutant allele (5'->3'): | UGGAGACUUGGGCAAUGUG
|
|
ASP-siRNA (As strand 3'->5'): | ACCUCUGAACCCGUUACAC
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 82
|
|
Wild allele (5'->3'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | ACCUCUGAACCCGUUACAC
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 5
|
|
Relative difference: | 77
|
| Wild siRNA details |
Wild allele (5'->3'): | NA
|
|
Wild siRNA (As strand 3'->5'): | NA
|
|
Percentage efficacy of wild siRNA for wild allele: | Lowest effective
|
|
Wild allele (5'->3'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | ACCUCUGAACCCGUUACAC
|
|
Percentage efficacy of Wild sirna for mutant allele: | 93
|
|
Relative difference : | High discrimination
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | Transgenic mouse model |
| Experimental technique used: | Dual luciferase reporter assay |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Chemically synthesized |
| Post-transfection duration: | 48 hours |
| Concentration used: | 100nM |
| Reference: | 12934714 |
| Delivery method: | Hydrodynamic transfection |
'| Article title: | Selective silencing by RNAi of a dominant allele that causes amyotrophic lateral sclerosis. |
'| Authors: | Ding H, Schwarz DS, Keene A, Affar el B, Fenton L, Xia X, Shi Y, Zamore PD, Xu Z. |
'| Journal Reference: | Aging Cell. 2003 Aug;2(4):209-17. |
'
