aspsirna0349 details

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ASPsiRNA information siRNA Id:aspsirna0349
siRNA Name: Si2
Mismatch information Wild siRNA (As strand 3'->5'):CCAGGUCGACCCUAUGGAC
ASP-siRNA (As strand 3'->5'):CAAGGUCGACCCUAUGGAC
Mismatch position in siRNA: A18C
Gene Information Gene Name Collagen, type III, alpha 1 (COL3A1)
Target Sequence (5'->3'):CCUGGACCUCCAGGUAUCAAAGGUCCAGCUGGGAUACCUGGAU
Wild allele (5'->3'):GGUCCAGCUGGGAUACCUG
Mutant allele (5'->3'):GUUCCAGCUGGGAUACCUG
Position of siRNA on target gene: 871-889
Respective Gene/Protein Resources GenBank Accession:NM_000090.3
Cytogenic location:2q32.2
Chromosomal coordinates:2:189,839,098-189,877,471
UniProt ID:P02461
HUGO ID:2201
Reference SNp(RefSNP): rs58777960
Disease/Mutation information Target Mutation: c.764G>T,p.Gly255Val
Matation type/variant: Single nucleotide variant/Missense variant
Mutation at gene level: NG_007404.1:g.20954G>T
Pathogenic status of mutation: Pathogenic
Disease:Vascular Ehlers-Danlos Syndrome (vEDs)
Clinical Resources ClinVar ID:101322
KEGG disease ID:H00802
OMIM ID: 130050
COSMIC: COL3A1
DECIPHER: COL3A1
GeneTests: COL3A1
ASP siRNA details Mutant allele (5'->3'): GUUCCAGCUGGGAUACCUG
ASP-siRNA (As strand 3'->5'):CAAGGUCGACCCUAUGGAC
Percentage efficacy of ASP-siRNA for mutant allele:50
Wild allele (5'->3'): GGUCCAGCUGGGAUACCUG
ASP-siRNA (As strand 3'->5'):CAAGGUCGACCCUAUGGAC
Percentage efficacy of ASP-siRNA for wild allele:58
Relative difference:-8
Wild siRNA details Wild allele (5'->3'): GGUCCAGCUGGGAUACCUG
Wild siRNA (As strand 3'->5'):CCAGGUCGACCCUAUGGAC
Percentage efficacy of wild siRNA for wild allele:47
Wild allele (5'->3'): GGUCCAGCUGGGAUACCUG
ASP-siRNA (As strand 3'->5'):CAAGGUCGACCCUAUGGAC
Percentage efficacy of Wild sirna for mutant allele:20
Relative difference :27
General information Mismatch incorporated in siRNA/Target:siRNA
Cell-line used: Fibroblast
Experimental technique used: Dual luciferase reporter assay
Transfection method: Dharmafect 1
siRNA expression method: Invitrogen
Post-transfection duration: 48 hours
Concentration used:100nM
Reference:22038052
Delivery method:Transfection
Article title:Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts.
Authors:Müller GA, Hansen U, Xu Z, Griswold B, Talan MI, McDonnell NB, Briest W.
Journal Reference:FASEB J. 2012 Feb;26(2):668-77. doi: 10.1096/fj.11-182162. Epub 2011 Oct 28.