| | |
ASPsiRNA information |
siRNA Id: | aspsirna0400
|
siRNA Name: | siG356D_A10(C14)_3++
|
Mismatch information |
Wild siRNA (As strand 3'->5'): | GUCUAAACCCGGACCGUCA
|
ASP-siRNA (As strand 3'->5'): | GUCUAAACCUGGAGCGUCA
|
Mismatch position in siRNA: | G6C,U10C |
Gene Information |
Gene Name | Activin A receptor type I (ACVR1) |
Target Sequence (5'->3'): | GCATAGCAGATTTGGGCCTGGCAGTCATG
|
Wild allele (5'->3'): | CAGAUUUGGGCCUGGCAGU
|
Mutant allele (5'->3'): | CAGAUUUGGACCUCGCAGUCAU
|
Position of siRNA on target gene: | 1488-1506
|
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.1067G>A,p.Gly356Asp
|
Matation type/variant: | Single nucleotide variant/Missense variant
|
Mutation at gene level: | NG_008004.1:g.119035G>A
|
Pathogenic status of mutation: | Pathogenic
|
Disease: | Fibrodysplasia Ossificans Progressiva (FOP) |
Clinical Resources |
ClinVar ID: | 18310 |
KEGG disease ID: | H00430 |
OMIM ID: | 135100 |
COSMIC: | ACVR1 |
DECIPHER: | ACVR1 |
GeneTests: | ACVR1 |
ASP siRNA details |
Mutant allele (5'->3'): | CAGAUUUGGACCUCGCAGUCAU
|
ASP-siRNA (As strand 3'->5'): | GUCUAAACCUGGAGCGUCA
|
Percentage efficacy of ASP-siRNA for mutant allele: | 50
|
Wild allele (5'->3'): | CAGAUUUGGGCCUGGCAGU
|
ASP-siRNA (As strand 3'->5'): | GUCUAAACCUGGAGCGUCA
|
Percentage efficacy of ASP-siRNA for wild allele: | 32
|
Relative difference: | 18
|
Wild siRNA details |
Wild allele (5'->3'): | CAGAUUUGGGCCUGGCAGU
|
Wild siRNA (As strand 3'->5'): | GUCUAAACCCGGACCGUCA
|
Percentage efficacy of wild siRNA for wild allele: | 69
|
Wild allele (5'->3'): | CAGAUUUGGGCCUGGCAGU
|
ASP-siRNA (As strand 3'->5'): | GUCUAAACCUGGAGCGUCA
|
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. |
'