aspsirna0601 details

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ASPsiRNA information siRNA Id:aspsirna0601
siRNA Name: siK9-p.R163Q-7
Mismatch information Wild siRNA (As strand 3'->5'):UUGAGUUAAGAGCCGACCG
ASP-siRNA (As strand 3'->5'):UUGAGUUAAGAGUCGACCG
Mismatch position in siRNA: U7C
Gene Information Gene Name Keratin 9 (KRT9)
Target Sequence (5'->3'):CCATGCAGGAACTCAATTCTCGGCTGGCCTCTTACTTGGATA
Wild allele (5'->3'):AACUCAAUUCUCGGCUGGC
Mutant allele (5'->3'):AACUCAAUUCUCAGCUGGC
Position of siRNA on target gene: 542-560
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): rs57758262
Disease/Mutation information Target Mutation: c.488G>A,p.Arg163Gln
Matation type/variant: Single nucleotide variant/Missense variant
Mutation at gene level: NG_008300.1:g.5554G>A
Pathogenic status of mutation: Pathogenic
Disease:Epidermolytic palmoplantar keratoderma (EPPK)
Clinical Resources ClinVar ID:3001
KEGG disease ID:H00722
OMIM ID: 144200
COSMIC: KRT9
DECIPHER: KRT9
GeneTests: KRT9
ASP siRNA details Mutant allele (5'->3'): AACUCAAUUCUCAGCUGGC
ASP-siRNA (As strand 3'->5'):UUGAGUUAAGAGUCGACCG
Percentage efficacy of ASP-siRNA for mutant allele:82
Wild allele (5'->3'): AACUCAAUUCUCGGCUGGC
ASP-siRNA (As strand 3'->5'):UUGAGUUAAGAGUCGACCG
Percentage efficacy of ASP-siRNA for wild allele:0
Relative difference:82
Wild siRNA details Wild allele (5'->3'): AACUCAAUUCUCGGCUGGC
Wild siRNA (As strand 3'->5'):UUGAGUUAAGAGCCGACCG
Percentage efficacy of wild siRNA for wild allele:67
Wild allele (5'->3'): AACUCAAUUCUCGGCUGGC
ASP-siRNA (As strand 3'->5'):UUGAGUUAAGAGUCGACCG
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.