| | |
|---|
| ASPsiRNA information |
siRNA Id: | aspsirna0926
|
|
siRNA Name: | U6TAmut4
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | CACCGACUCCUCUACUGUAAAA
|
|
ASP-siRNA (As strand 3'->5'): | CACCGACUC---UACUGUAAAA
|
|
Mismatch position in siRNA: | NA |
| Gene Information |
Gene Name | Torsin family 1, member A (TOR1A) |
|
Target Sequence (5'->3'): | AAGCAGAGTGGCTGAGGAGATGACATTTTTCCCCAAA
|
|
Wild allele (5'->3'): | GUGGCUGAGGAGAUGACAUUUU
|
|
Mutant allele (5'->3'): | GUGGCUGAG---AUGACAUUUU
|
|
Position of siRNA on target gene: | 975-996
|
| 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/inframe variant
|
|
Mutation at gene level: | NG_008049.1:g.15099_15101delGAG
|
|
Pathogenic status of mutation: | Pathogenic
|
|
Disease: | Early onset torsion dystonia (DYT1) |
| 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'): | GUGGCUGAG---AUGACAUUUU
|
|
ASP-siRNA (As strand 3'->5'): | CACCGACUC---UACUGUAAAA
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | NA
|
|
Wild allele (5'->3'): | GUGGCUGAGGAGAUGACAUUUU
|
|
ASP-siRNA (As strand 3'->5'): | CACCGACUC---UACUGUAAAA
|
|
Percentage efficacy of ASP-siRNA for wild allele: | NA
|
|
Relative difference: | NA
|
| Wild siRNA details |
Wild allele (5'->3'): | GUGGCUGAGGAGAUGACAUUUU
|
|
Wild siRNA (As strand 3'->5'): | CACCGACUCCUCUACUGUAAAA
|
|
Percentage efficacy of wild siRNA for wild allele: | 40
|
|
Wild allele (5'->3'): | GUGGCUGAGGAGAUGACAUUUU
|
|
ASP-siRNA (As strand 3'->5'): | CACCGACUC---UACUGUAAAA
|
|
Percentage efficacy of Wild sirna for mutant allele: | 12
|
|
Relative difference : | 28
|
| 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: | Chemically synthesized |
| Post-transfection duration: | 48 hours |
| Concentration used: | 100nM |
| Reference: | 16280588 |
| Delivery method: | Transfection |
| Article title: | Silencing primary dystonia: lentiviral-mediated RNA interference therapy for DYT1 dystonia |
| Authors: | Gonzalez-Alegre P, Bode N, Davidson BL, Paulson HL |
| Journal Reference: | J Neurosci. 2005 Nov 9;25(45):10502-9 |
