aspsirna0393 details

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ASPsiRNA information siRNA Id:aspsirna0393
siRNA Name: siR206H_A9(U14)_3+
Mismatch information Wild siRNA (As strand 3'->5'):UCACCGAGUGGUCUAAUGU
ASP-siRNA (As strand 3'->5'):UCACCGAGUGGUCAAAUGU
Mismatch position in siRNA: U11C,A6U
Gene Information Gene Name Activin A receptor type I (ACVR1)
Target Sequence (5'->3'):AAGAACAGTGGCTCGCCAGATTACACTGT
Wild allele (5'->3'):AGUGGCUCACCAGAUUACA
Mutant allele (5'->3'):AGUGGCUCACCAGUUUACAC
Position of siRNA on target gene: 1039-1057
Respective Gene/Protein Resources GenBank Accession:NM_001105.4
Cytogenic location:2q24.1
Chromosomal coordinates:2:158,592,957-158,732,373
UniProt ID:Q06900
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'): AGUGGCUCACCAGUUUACAC
ASP-siRNA (As strand 3'->5'):UCACCGAGUGGUCAAAUGU
Percentage efficacy of ASP-siRNA for mutant allele:NA
Wild allele (5'->3'): AGUGGCUCACCAGAUUACA
ASP-siRNA (As strand 3'->5'):UCACCGAGUGGUCAAAUGU
Percentage efficacy of ASP-siRNA for wild allele:13
Relative difference:NA
Wild siRNA details Wild allele (5'->3'): AGUGGCUCACCAGAUUACA
Wild siRNA (As strand 3'->5'):UCACCGAGUGGUCUAAUGU
Percentage efficacy of wild siRNA for wild allele:69
Wild allele (5'->3'): AGUGGCUCACCAGAUUACA
ASP-siRNA (As strand 3'->5'):UCACCGAGUGGUCAAAUGU
Percentage efficacy of Wild sirna for mutant allele:38
Relative difference :31
General information Mismatch incorporated in siRNA/Target:siRNA
Cell-line used: HeLa
Experimental technique used: Dual luciferase reporter assay
Transfection method: Lipofectamine 2000
siRNA expression method: Sigma-aldrich
Post-transfection duration: 24 hours
Concentration used:20nM
Reference:22130450
Delivery method:Transfection
Article title:Disease-causing allele-specific silencing against the ALK2 mutants, R206H and G356D, in fibrodysplasia ossificans progressiva.
Authors:Takahashi M, Katagiri T, Furuya H, Hohjoh H.
Journal Reference:Gene Ther. 2012 Jul;19(7):781-5. doi: 10.1038/gt.2011.193. Epub 2011 Dec 1.