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| ASPsiRNA information |
siRNA Id: | aspsirna0898
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siRNA Name: | SiRNA 1963
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | NA
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ASP-siRNA (As strand 3'->5'): | UCGUCUCACCGACUCCUCU
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Mismatch position in siRNA: | NA |
| Gene Information |
Gene Name | Torsin family 1, member A (TOR1A) |
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Target Sequence (5'->3'): | AAGCAGAGTGGCTGAGGAGATGACATTTTTCCCCAAA
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Wild allele (5'->3'): | NA
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Mutant allele (5'->3'): | AGCAGAGUGGCUGAGGAGA
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Position of siRNA on target gene: | 969-987
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| 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 |
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Reference SNp(RefSNP): | rs72415998 |
| Disease/Mutation information |
Target Mutation: | c.907_909delGAG,p.Glu303del
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Matation type/variant: | Single nucleotide variant/inframe_variant
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Mutation at gene level: | NG_008049.1:g.15099_15101delGAG
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Pathogenic status of mutation: | Pathogenic
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Disease: | Early onset torsion dystonia (DYT1) |
| Clinical Resources |
ClinVar ID: | 5180 |
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KEGG disease ID: | H01255 |
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OMIM ID: | 128100 |
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COSMIC: | TOR1A |
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DECIPHER: | TOR1A |
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GeneTests: | TOR1A |
| ASP siRNA details |
Mutant allele (5'->3'): | AGCAGAGUGGCUGAGGAGA
|
|
ASP-siRNA (As strand 3'->5'): | UCGUCUCACCGACUCCUCU
|
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Percentage efficacy of ASP-siRNA for mutant allele: | 56
|
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Wild allele (5'->3'): | NA
|
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ASP-siRNA (As strand 3'->5'): | UCGUCUCACCGACUCCUCU
|
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Percentage efficacy of ASP-siRNA for wild allele: | 34
|
|
Relative difference: | 22
|
| 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'): | UCGUCUCACCGACUCCUCU
|
|
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: | Western blot |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Applied Biosystems |
| Post-transfection duration: | 72 hours |
| Concentration used: | 100nM |
| Reference: | 18258738 |
| Delivery method: | Lentiviral vector delivery |
| Article title: | siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells |
| Authors: | Hewett JW1, Nery FC, Niland B, Ge P, Tan P, Hadwiger P, Tannous BA, Sah DW, Breakefield XO |
| Journal Reference: | Hum Mol Genet. 2008 May 15;17(10):1436-45. doi: 10.1093/hmg/ddn032. Epub 2008 Feb 7 |
