aspsirna1888 details

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ASPsiRNA information siRNA Id:aspsirna1888
siRNA Name: c-Mut
Mismatch information Wild siRNA (As strand 3'->5'):AGGACCACUUCGACCAGCA
ASP-siRNA (As strand 3'->5'):AGGACCACUUCGAACAGCA
Mismatch position in siRNA: A6C
Gene Information Gene Name Collagen type I alpha 1 (COL1A1)
Target Sequence (5'->3'):TCTCCTGGTGAAGCTGGTCGTCCCGGTGAAGCTGGTCTGCCTGGTGC
Wild allele (5'->3'):UCCUGGUGAAGCUGGUCGU
Mutant allele (5'->3'):UCCUGGUGAAGCUUGUCGU
Position of siRNA on target gene: 1692-1710
Respective Gene/Protein Resources GenBank Accession:NM_000088.3
Cytogenic location:17q21.3
Chromosomal coordinates:17:48,261,456-48,279,002
UniProt ID:P02452
HUGO ID:2197
Reference SNp(RefSNP): rs72656303
Disease/Mutation information Target Mutation: c.3244G>T,p.Gly1082Cys
Matation type/variant: single nucleotide variant/missense variant
Mutation at gene level: NG_007400.1:g.18527G>T
Pathogenic status of mutation: Pathogenic
Disease:Osteogenesis Imperfecta (OI)
Clinical Resources ClinVar ID:17299
KEGG disease ID:H00506
OMIM ID: 615220
COSMIC: COL1A1
DECIPHER: COL1A1
GeneTests: COL1A1
ASP siRNA details Mutant allele (5'->3'): UCCUGGUGAAGCUUGUCGU
ASP-siRNA (As strand 3'->5'):AGGACCACUUCGAACAGCA
Percentage efficacy of ASP-siRNA for mutant allele:52
Wild allele (5'->3'): UCCUGGUGAAGCUGGUCGU
ASP-siRNA (As strand 3'->5'):AGGACCACUUCGAACAGCA
Percentage efficacy of ASP-siRNA for wild allele:40
Relative difference:12
Wild siRNA details Wild allele (5'->3'): UCCUGGUGAAGCUGGUCGU
Wild siRNA (As strand 3'->5'):AGGACCACUUCGACCAGCA
Percentage efficacy of wild siRNA for wild allele:80
Wild allele (5'->3'): UCCUGGUGAAGCUGGUCGU
ASP-siRNA (As strand 3'->5'):AGGACCACUUCGAACAGCA
Percentage efficacy of Wild sirna for mutant allele:35
Relative difference :45
General information Mismatch incorporated in siRNA/Target:siRNA
Cell-line used: HEK293
Experimental technique used: Dual luciferase reporter assay
Transfection method: Lipofectamine 2000
siRNA expression method: Eurogentec
Post-transfection duration: 24 hours
Concentration used:10nM
Reference:24022296
Delivery method:Transfection
Article title:Allele-specific Col1a1 silencing reduces mutant collagen in fibroblasts from Brtl mouse, a model for classical osteogenesis imperfecta.
Authors:Rousseau J, Gioia R, Layrolle P, Lieubeau B, Heymann D, Rossi A, Marini JC, Trichet V, Forlino A.
Journal Reference:Eur J Hum Genet. 2014 May;22(5):667-74. doi: 10.1038/ejhg.2013.198. Epub 2013 Sep 11.