| | |
ASPsiRNA information |
siRNA Id: | aspsirna2190
|
siRNA Name: | 11A–17G
|
Mismatch information |
Wild siRNA (As strand 3'->5'): | CCCUCUUCGGCCUCUAGGA
|
ASP-siRNA (As strand 3'->5'): | CCCUCUUCGGUCUCUACGA
|
Mismatch position in siRNA: | U9C,C3G |
Gene Information |
Gene Name | Collagen type VI alpha 1 (COL6A1) |
Target Sequence (5'->3'): | AGGGAGAAGCCGGAGAUCCUGGAA
|
Wild allele (5'->3'): | GGGAGAAGCCGGAGAUCCU
|
Mutant allele (5'->3'): | GGGAGAAGCCAGAGAUGCU
|
Position of siRNA on target gene: | 942-960
|
Respective Gene/Protein Resources |
GenBank Accession: | NM_001848.2 |
Cytogenic location: | 21q22.3 |
Chromosomal coordinates: | 21:47,401,662-47,424,962 |
UniProt ID: | P12109 |
HUGO ID: | 2211 |
Reference SNp(RefSNP): | rs1219 |
Disease/Mutation information |
Target Mutation: | c.850G>A, p.G284R
|
Matation type/variant: | single nucleotide variant/missense variant
|
Mutation at gene level: | NG_008674.1:g.12381G>A
|
Pathogenic status of mutation: | Pathogenic
|
Disease: | Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
Clinical Resources |
ClinVar ID: | 17180 |
KEGG disease ID: | H01341 |
OMIM ID: | 254090 |
COSMIC: | COL6A1 |
DECIPHER: | COL6A1 |
GeneTests: | COL6A1 |
ASP siRNA details |
Mutant allele (5'->3'): | GGGAGAAGCCAGAGAUGCU
|
ASP-siRNA (As strand 3'->5'): | CCCUCUUCGGUCUCUACGA
|
Percentage efficacy of ASP-siRNA for mutant allele: | 60
|
Wild allele (5'->3'): | GGGAGAAGCCGGAGAUCCU
|
ASP-siRNA (As strand 3'->5'): | CCCUCUUCGGUCUCUACGA
|
Percentage efficacy of ASP-siRNA for wild allele: | 50
|
Relative difference: | 10
|
Wild siRNA details |
Wild allele (5'->3'): | GGGAGAAGCCGGAGAUCCU
|
Wild siRNA (As strand 3'->5'): | CCCUCUUCGGCCUCUAGGA
|
Percentage efficacy of wild siRNA for wild allele: | 80
|
Wild allele (5'->3'): | GGGAGAAGCCGGAGAUCCU
|
ASP-siRNA (As strand 3'->5'): | CCCUCUUCGGUCUCUACGA
|
Percentage efficacy of Wild sirna for mutant allele: | 70
|
Relative difference : | 10
|
General information |
Mismatch incorporated in siRNA/Target: | siRNA |
Cell-line used: | NIH3T3 |
Experimental technique used: | RT-PCR |
Transfection method: | Lipofectamine 2000 |
siRNA expression method: | Invitrogen |
Post-transfection duration: | 24 hours |
Concentration used: | 80nM |
Reference: | 24959844 |
Delivery method: | Transfection |
'Article title: | Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts. |
'Authors: | Noguchi S, Ogawa M, Kawahara G, Malicdan MC, Nishino I. |
'Journal Reference: | Mol Ther Nucleic Acids. 2014 Jun 24;3:e171. doi: 10.1038/mtna.2014.22 |
'