| | |
ASPsiRNA information |
siRNA Id: | aspsirna0557
|
siRNA Name: | MutB-si
|
Mismatch information |
Wild siRNA (As strand 3'->5'): | GACUCCUCUACUGUAAAAAGGGG
|
ASP-siRNA (As strand 3'->5'): | GA---CUCUACUGUAAAAAGGGG
|
Mismatch position in siRNA: | DeltaGAG |
Gene Information |
Gene Name | Torsin family 1, member A (TOR1A) |
Target Sequence (5'->3'): | GUAAGCAGAGUGGCUGAGGAGAUGACAUUUUUCCCCAAAGAG
|
Wild allele (5'->3'): | CUGAGGAGAUGACAUUUUUCCCC
|
Mutant allele (5'->3'): | CU---GAGAUGACAUUUUUCCCC
|
Position of siRNA on target gene: | 979-1001
|
Respective Gene/Protein Resources |
GenBank Accession: | NM_000113.2 |
Cytogenic location: | 9q34.11 |
Chromosomal coordinates: | 9:132,575,220-132,586,440 |
UniProt ID: | O14656 |
HUGO ID: | 3098 |
Reference SNp(RefSNP): | rs72415998 |
Disease/Mutation information |
Target Mutation: | c.907_909delGAG,p.Glu303del
|
Matation type/variant: | Deletion
|
Mutation at gene level: | NG_008049.1:g.15099_15101delGAG
|
Pathogenic status of mutation: | Pathogenic
|
Disease: | DYT1 dystonia |
Clinical Resources |
ClinVar ID: | 5180 |
KEGG disease ID: | H01255 |
OMIM ID: | 128100 |
COSMIC: | TOR1A |
DECIPHER: | TOR1A |
GeneTests: | TOR1A |
ASP siRNA details |
Mutant allele (5'->3'): | CU---GAGAUGACAUUUUUCCCC
|
ASP-siRNA (As strand 3'->5'): | GA---CUCUACUGUAAAAAGGGG
|
Percentage efficacy of ASP-siRNA for mutant allele: | 4
|
Wild allele (5'->3'): | CUGAGGAGAUGACAUUUUUCCCC
|
ASP-siRNA (As strand 3'->5'): | GA---CUCUACUGUAAAAAGGGG
|
Percentage efficacy of ASP-siRNA for wild allele: | 15
|
Relative difference: | -11
|
Wild siRNA details |
Wild allele (5'->3'): | CUGAGGAGAUGACAUUUUUCCCC
|
Wild siRNA (As strand 3'->5'): | GACUCCUCUACUGUAAAAAGGGG
|
Percentage efficacy of wild siRNA for wild allele: | 0
|
Wild allele (5'->3'): | CUGAGGAGAUGACAUUUUUCCCC
|
ASP-siRNA (As strand 3'->5'): | GA---CUCUACUGUAAAAAGGGG
|
Percentage efficacy of Wild sirna for mutant allele: | 82
|
Relative difference : | -82
|
General information |
Mismatch incorporated in siRNA/Target: | siRNA |
Cell-line used: | Cos-7 |
Experimental technique used: | Western blot |
Transfection method: | Lipofectamine Plus |
siRNA expression method: | Epicentre Technologies |
Post-transfection duration: | 36-48 hours |
Concentration used: | 5microg |
Reference: | 12783425 |
Delivery method: | Transfection |
'Article title: | Toward therapy for DYT1 dystonia: allele-specific silencing of mutant TorsinA |
'Authors: | Gonzalez-Alegre P1, Miller VM, Davidson BL, Paulson HL |
'Journal Reference: | Ann Neurol. 2003 Jun;53(6):781-7 |
'