aspsirna0307 details

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ASPsiRNA information siRNA Id:aspsirna0307
siRNA Name: siCOL7A1 delta 87mut13
Mismatch information Wild siRNA (As strand 3'->5'):CCUCGGGACCACACGGUCCCAGUGGUCCG
ASP-siRNA (As strand 3'->5'):CCUCGGGACCACACGGU---CG
Mismatch position in siRNA: NA
Gene Information Gene Name Collagen type VII alpha 1 (COL7A1)
Target Sequence (5'->3'):GGGAGCCCUGGUGUGCCAGGGUCACCAG
Wild allele (5'->3'):GGAGCCCUGGUGUGCCAGGGUCACCAGGC
Mutant allele (5'->3'):GGAGCCCUGGUGUGCCA---GC
Position of siRNA on target gene: 6833-6842
Respective Gene/Protein Resources GenBank Accession:NM_000094.3
Cytogenic location:3p21.31
Chromosomal coordinates:3:48,601,505-48,632,592
UniProt ID:Q02388
HUGO ID:2214
Reference SNp(RefSNP): rs12191283
Disease/Mutation information Target Mutation: c.6752G>A,p.Gly2251Glu
Matation type/variant: Single nucleotide variant/Missense variant
Mutation at gene level: NG_007065.1:g.27312G>A
Pathogenic status of mutation: Pathogenic
Disease:Dominant dystrophic epidermolysis bullosa(DDEB)
Clinical Resources ClinVar ID:17436
KEGG disease ID:H00584
OMIM ID: 131750
COSMIC: COL7A1
DECIPHER: COL7A1
GeneTests: COL7A1
ASP siRNA details Mutant allele (5'->3'): GGAGCCCUGGUGUGCCA---GC
ASP-siRNA (As strand 3'->5'):CCUCGGGACCACACGGU---CG
Percentage efficacy of ASP-siRNA for mutant allele:30
Wild allele (5'->3'): GGAGCCCUGGUGUGCCAGGGUCACCAGGC
ASP-siRNA (As strand 3'->5'):CCUCGGGACCACACGGU---CG
Percentage efficacy of ASP-siRNA for wild allele:18
Relative difference:12
Wild siRNA details Wild allele (5'->3'): GGAGCCCUGGUGUGCCAGGGUCACCAGGC
Wild siRNA (As strand 3'->5'):CCUCGGGACCACACGGUCCCAGUGGUCCG
Percentage efficacy of wild siRNA for wild allele:Moderate efficacy
Wild allele (5'->3'): GGAGCCCUGGUGUGCCAGGGUCACCAGGC
ASP-siRNA (As strand 3'->5'):CCUCGGGACCACACGGU---CG
Percentage efficacy of Wild sirna for mutant allele:Moderate efficacy
Relative difference :Poor discrimination
General information Mismatch incorporated in siRNA/Target:nil
Cell-line used: 293T
Experimental technique used: RT-PCR
Transfection method: Lipofectamine 2000
siRNA expression method: Invitrogen,Sigma
Post-transfection duration: 48 hours
Concentration used:10nM
Reference:22336946
Delivery method:Transfection
Article title:siRNA-mediated allele-specific inhibition of mutant type VII collagen in dominant dystrophic epidermolysis bullosa.
Authors:Pendaries V, Gasc G, Titeux M, Tonasso L, Mejía JE, Hovnanian A.
Journal Reference:J Invest Dermatol. 2012 Jun;132(6):1741-3. doi: 10.1038/jid.2012.11. Epub 2012 Feb 16.