aspsirna3571 details

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ASPsiRNA information siRNA Id:aspsirna3571
siRNA Name: A9
Mismatch information Wild siRNA (As strand 3'->5'):UCACCGAGCGGUCUAAUGU
ASP-siRNA (As strand 3'->5'):UCACCGAGUGGUCUAAUGU
Mismatch position in siRNA: U11C
Gene Information Gene Name Activin A type I receptor proteins (ACVR1)
Target Sequence (5'->3'):AACAGTGGCTCGCCAGATTACACTGTTGGAGT
Wild allele (5'->3'):AGUGGCUCGCCAGAUUACA
Mutant allele (5'->3'):AGUGGCUCACCAGAUUACA
Position of siRNA on target gene: 1039-1057
Respective Gene/Protein Resources GenBank Accession:
Cytogenic location:2q24.1
Chromosomal coordinates:2:158,592,957-158,732,373
UniProt ID:
HUGO ID:171
Reference SNp(RefSNP): rs12191267
Disease/Mutation information Target Mutation: c.617G>A,p.Arg206His
Matation type/variant: Single nucleotide variant/Missense variant
Mutation at gene level: NG_008004.1:g.105998G>A
Pathogenic status of mutation: Pathogenic
Disease:Fibrodysplasia Ossificans Progressiva (FOP)
Clinical Resources ClinVar ID:18309
KEGG disease ID:H00430
OMIM ID: 135100
COSMIC: ACVR1
DECIPHER: ACVR1
GeneTests: ACVR1
ASP siRNA details Mutant allele (5'->3'): AGUGGCUCACCAGAUUACA
ASP-siRNA (As strand 3'->5'):UCACCGAGUGGUCUAAUGU
Percentage efficacy of ASP-siRNA for mutant allele:60
Wild allele (5'->3'): AGUGGCUCGCCAGAUUACA
ASP-siRNA (As strand 3'->5'):UCACCGAGUGGUCUAAUGU
Percentage efficacy of ASP-siRNA for wild allele:20
Relative difference:40
Wild siRNA details Wild allele (5'->3'): AGUGGCUCGCCAGAUUACA
Wild siRNA (As strand 3'->5'):UCACCGAGCGGUCUAAUGU
Percentage efficacy of wild siRNA for wild allele:45
Wild allele (5'->3'): AGUGGCUCGCCAGAUUACA
ASP-siRNA (As strand 3'->5'):UCACCGAGUGGUCUAAUGU
Percentage efficacy of Wild sirna for mutant allele:40
Relative difference :5
General information Mismatch incorporated in siRNA/Target:siRNA
Cell-line used: FOP SHED cells
Experimental technique used: Immunopblotting
Transfection method: Lipofectamine 2000
siRNA expression method: Invitrogen
Post-transfection duration: 48 hours
Concentration used:10nM
Reference:US8859752B2
Delivery method:Transfection
Article title:Sirna-based Therapy Of Fibrodyplasia Ossificans Progressiva (fop)
Authors:Kaplan Frederick S, Shore Eileen M
Journal Reference:US8859752B2