aspsirna0593 details

''''
ASPsiRNA information siRNA Id:aspsirna0593
siRNA Name: siK9-p.R163W-18
Mismatch information Wild siRNA (As strand 3'->5'):AGCCGACCGGAGAAUGAAC
ASP-siRNA (As strand 3'->5'):AACCGACCGGAGAAUGAAC
Mismatch position in siRNA: A18G
Gene Information Gene Name Keratin 9 (KRT9)
Target Sequence (5'->3'):CCATGCAGGAACTCAATTCT*C#GGCTGGCCTCTTACTTGGATA
Wild allele (5'->3'):UCGGCUGGCCUCUUACUUG
Mutant allele (5'->3'):UUGGCUGGCCUCUUACUUG
Position of siRNA on target gene: 552-570
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): rs59616921
Disease/Mutation information Target Mutation: c.487C>T,p.Arg163Trp
Matation type/variant: Single nucleotide variant/Missense variant
Mutation at gene level: NG_008300.1:g.5553C>T
Pathogenic status of mutation: Pathogenic
Disease:Epidermolytic palmoplantar keratoderma (EPPK)
Clinical Resources ClinVar ID:2997
KEGG disease ID:H00722
OMIM ID: 144200
COSMIC: KRT9
DECIPHER: KRT9
GeneTests: KRT9
ASP siRNA details Mutant allele (5'->3'): UUGGCUGGCCUCUUACUUG
ASP-siRNA (As strand 3'->5'):AACCGACCGGAGAAUGAAC
Percentage efficacy of ASP-siRNA for mutant allele:55
Wild allele (5'->3'): UCGGCUGGCCUCUUACUUG
ASP-siRNA (As strand 3'->5'):AACCGACCGGAGAAUGAAC
Percentage efficacy of ASP-siRNA for wild allele:15
Relative difference:40
Wild siRNA details Wild allele (5'->3'): UCGGCUGGCCUCUUACUUG
Wild siRNA (As strand 3'->5'):AGCCGACCGGAGAAUGAAC
Percentage efficacy of wild siRNA for wild allele:67
Wild allele (5'->3'): UCGGCUGGCCUCUUACUUG
ASP-siRNA (As strand 3'->5'):AACCGACCGGAGAAUGAAC
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.