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| ASPsiRNA information |
siRNA Id: | aspsirna0623
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siRNA Name: | siK9-p.M157V-10
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| Mismatch information |
Wild siRNA (As strand 3'->5'): | UUCUCGUGGUACGUCCUUG
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ASP-siRNA (As strand 3'->5'): | UUCUCGUGGCACGUCCUUG
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Mismatch position in siRNA: | C10U |
| Gene Information |
Gene Name | Keratin 9 (KRT9) |
|
Target Sequence (5'->3'): | CTGCTAATGAGAAGAGCACCATGCAGGAACTCAATTCTCGGCT
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Wild allele (5'->3'): | AAGAGCACCAUGCAGGAAC
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Mutant allele (5'->3'): | AAGAGCACCGUGCAGGAAC
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Position of siRNA on target gene: | 526-544
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_000226.3 |
| Cytogenic location: | 17q21.2 |
| Chromosomal coordinates: | 17:39,722,092-39,728,309 |
| UniProt ID: | P35527 |
| HUGO ID: | 6447 |
|
Reference SNp(RefSNP): | rs58597584 |
| Disease/Mutation information |
Target Mutation: | c.469A>G ,p.Met157Val
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Matation type/variant: | Single nucleotide variant/Missense variant
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Mutation at gene level: | NG_008300.1:g.5535A>G
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Pathogenic status of mutation: | Pathogenic
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Disease: | Epidermolytic palmoplantar keratoderma (EPPK) |
| Clinical Resources |
ClinVar ID: | 3002 |
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KEGG disease ID: | H00722 |
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OMIM ID: | 144200 |
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COSMIC: | KRT9 |
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DECIPHER: | KRT9 |
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GeneTests: | KRT9 |
| ASP siRNA details |
Mutant allele (5'->3'): | AAGAGCACCGUGCAGGAAC
|
|
ASP-siRNA (As strand 3'->5'): | UUCUCGUGGCACGUCCUUG
|
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Percentage efficacy of ASP-siRNA for mutant allele: | 11
|
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Wild allele (5'->3'): | AAGAGCACCAUGCAGGAAC
|
|
ASP-siRNA (As strand 3'->5'): | UUCUCGUGGCACGUCCUUG
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 27
|
|
Relative difference: | -16
|
| Wild siRNA details |
Wild allele (5'->3'): | AAGAGCACCAUGCAGGAAC
|
|
Wild siRNA (As strand 3'->5'): | UUCUCGUGGUACGUCCUUG
|
|
Percentage efficacy of wild siRNA for wild allele: | 67
|
|
Wild allele (5'->3'): | AAGAGCACCAUGCAGGAAC
|
|
ASP-siRNA (As strand 3'->5'): | UUCUCGUGGCACGUCCUUG
|
|
Percentage efficacy of Wild sirna for mutant allele: | 30
|
|
Relative difference : | 37
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | AD293 |
| Experimental technique used: | Dual luciferase reporter assay |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Dharmacon |
| Post-transfection duration: | 24 hours |
| Concentration used: | 0-6.25nM |
| Reference: | 22402445 |
| Delivery method: | Transfection |
'| Article title: | Generic and personalized RNAi-based therapeutics for a dominant-negative epidermal fragility disorder. |
'| Authors: | Leslie Pedrioli DM, Fu DJ, Gonzalez-Gonzalez E, Contag CH, Kaspar RL, Smith FJ, McLean WH. |
'| Journal Reference: | J Invest Dermatol. 2012 Jun;132(6):1627-35. doi: 10.1038/jid.2012.28. Epub 2012 Mar 8. |
'
