| | |
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| ASPsiRNA information |
siRNA Id: | aspsirna0367
|
|
siRNA Name: | siR206H_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 receptor type I (ACVR1) |
|
Target Sequence (5'->3'): | AAGAACAGTGGCTCGCCAGATTACACTGT
|
|
Wild allele (5'->3'): | AGUGGCUCGCCAGAUUACA
|
|
Mutant allele (5'->3'): | AGUGGCUCACCAGAUUACA
|
|
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
|
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Mutation at gene level: | NG_008004.1:g.105998G>A
|
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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: | 30
|
|
Relative difference: | 30
|
| Wild siRNA details |
Wild allele (5'->3'): | AGUGGCUCGCCAGAUUACA
|
|
Wild siRNA (As strand 3'->5'): | UCACCGAGCGGUCUAAUGU
|
|
Percentage efficacy of wild siRNA for wild allele: | 30
|
|
Wild allele (5'->3'): | AGUGGCUCGCCAGAUUACA
|
|
ASP-siRNA (As strand 3'->5'): | UCACCGAGUGGUCUAAUGU
|
|
Percentage efficacy of Wild sirna for mutant allele: | 20
|
|
Relative difference : | 10
|
| 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. |
'
