aspsirna0464 details

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ASPsiRNA information siRNA Id:aspsirna0464
siRNA Name: K5_541.c18
Mismatch information Wild siRNA (As strand 3'->5'):GAGGAAGUAGCUGUUCCAC
ASP-siRNA (As strand 3'->5'):GGGGAAGUAGCUGUUCCAC
Mismatch position in siRNA: G18A
Gene Information Gene Name Keratin 5 (KRT5)
Target Sequence (5'->3'):GACCCUCAACAAUAAGUUUGCCUCCUUCAUCGACAAGGUGCGG
Wild allele (5'->3'):CUCCUUCAUCGACAAGGUG
Mutant allele (5'->3'):CCCCUUCAUCGACAAGGUG
Position of siRNA on target gene: 703-721
Respective Gene/Protein Resources GenBank Accession:NM_000424.3
Cytogenic location:12q13.13
Chromosomal coordinates:12:52,908,358-52,914,327
UniProt ID:P13647
HUGO ID:6442
Reference SNp(RefSNP): rs60715293
Disease/Mutation information Target Mutation: c.541T>C ,p.Ser181Pro
Matation type/variant: Single nucleotide variant/Missense variant
Mutation at gene level: NG_008297.1:g.5704T>C
Pathogenic status of mutation: Pathogenic
Disease:Epidermolysis bullosa simplex (EBS)
Clinical Resources ClinVar ID:14650
KEGG disease ID:H00584
OMIM ID: 131760
COSMIC: KRT5
DECIPHER: KRT5
GeneTests: KRT5
ASP siRNA details Mutant allele (5'->3'): CCCCUUCAUCGACAAGGUG
ASP-siRNA (As strand 3'->5'):GGGGAAGUAGCUGUUCCAC
Percentage efficacy of ASP-siRNA for mutant allele:62
Wild allele (5'->3'): CUCCUUCAUCGACAAGGUG
ASP-siRNA (As strand 3'->5'):GGGGAAGUAGCUGUUCCAC
Percentage efficacy of ASP-siRNA for wild allele:35
Relative difference:27
Wild siRNA details Wild allele (5'->3'): CUCCUUCAUCGACAAGGUG
Wild siRNA (As strand 3'->5'):GAGGAAGUAGCUGUUCCAC
Percentage efficacy of wild siRNA for wild allele:NA
Wild allele (5'->3'): CUCCUUCAUCGACAAGGUG
ASP-siRNA (As strand 3'->5'):GGGGAAGUAGCUGUUCCAC
Percentage efficacy of Wild sirna for mutant allele:NA
Relative difference :NA
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: Eurofins MWG Operon
Post-transfection duration: 24 hours
Concentration used:10 pM -6.25microM
Reference:21716320
Delivery method:Transfection
Article title:Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex.
Authors:Atkinson SD, McGilligan VE, Liao H, Szeverenyi I, Smith FJ, Moore CB, McLean WH.
Journal Reference:J Invest Dermatol. 2011 Oct;131(10):2079-86. doi: 10.1038/jid.2011.169. Epub 2011 Jun 30.