| | |
ASPsiRNA information |
siRNA Id: | aspsirna1893
|
siRNA Name: | f-Mut
|
Mismatch information |
Wild siRNA (As strand 3'->5'): | ACCACUUCGACCAGCAGGG
|
ASP-siRNA (As strand 3'->5'): | ACCACUUCGAACAGCAGGG
|
Mismatch position in siRNA: | A9C |
Gene Information |
Gene Name | Collagen type I alpha 1 (COL1A1) |
Target Sequence (5'->3'): | TCTCCTGGTGAAGCTGGTCGTCCCGGTGAAGCTGGTCTGCCTGGTGC
|
Wild allele (5'->3'): | UGGUGAAGCUGGUCGUCCC
|
Mutant allele (5'->3'): | UGGUGAAGCUUGUCGUCCC
|
Position of siRNA on target gene: | 1695-1713
|
Respective Gene/Protein Resources |
GenBank Accession: | NM_000088.3 |
Cytogenic location: | 17q21.3 |
Chromosomal coordinates: | 17:48,261,456-48,279,002 |
UniProt ID: | P02452 |
HUGO ID: | 2197 |
Reference SNp(RefSNP): | rs72656303 |
Disease/Mutation information |
Target Mutation: | c.3244G>T,p.Gly1082Cys
|
Matation type/variant: | single nucleotide variant/missense variant
|
Mutation at gene level: | NG_007400.1:g.18527G>T
|
Pathogenic status of mutation: | Pathogenic
|
Disease: | Osteogenesis Imperfecta (OI) |
Clinical Resources |
ClinVar ID: | 17299 |
KEGG disease ID: | H00506 |
OMIM ID: | 615220 |
COSMIC: | COL1A1 |
DECIPHER: | COL1A1 |
GeneTests: | COL1A1 |
ASP siRNA details |
Mutant allele (5'->3'): | UGGUGAAGCUUGUCGUCCC
|
ASP-siRNA (As strand 3'->5'): | ACCACUUCGAACAGCAGGG
|
Percentage efficacy of ASP-siRNA for mutant allele: | 58
|
Wild allele (5'->3'): | UGGUGAAGCUGGUCGUCCC
|
ASP-siRNA (As strand 3'->5'): | ACCACUUCGAACAGCAGGG
|
Percentage efficacy of ASP-siRNA for wild allele: | 1
|
Relative difference: | 57
|
Wild siRNA details |
Wild allele (5'->3'): | UGGUGAAGCUGGUCGUCCC
|
Wild siRNA (As strand 3'->5'): | ACCACUUCGACCAGCAGGG
|
Percentage efficacy of wild siRNA for wild allele: | 80
|
Wild allele (5'->3'): | UGGUGAAGCUGGUCGUCCC
|
ASP-siRNA (As strand 3'->5'): | ACCACUUCGAACAGCAGGG
|
Percentage efficacy of Wild sirna for mutant allele: | 35
|
Relative difference : | 45
|
General information |
Mismatch incorporated in siRNA/Target: | siRNA |
Cell-line used: | Fibroblast |
Experimental technique used: | RT-PCR |
Transfection method: | Lipofectamine 2000 |
siRNA expression method: | Eurogentec |
Post-transfection duration: | 24 hours |
Concentration used: | 10nM |
Reference: | 24022296 |
Delivery method: | Transfection |
'Article title: | Allele-specific Col1a1 silencing reduces mutant collagen in fibroblasts from Brtl mouse, a model for classical osteogenesis imperfecta. |
'Authors: | Rousseau J, Gioia R, Layrolle P, Lieubeau B, Heymann D, Rossi A, Marini JC, Trichet V, Forlino A. |
'Journal Reference: | Eur J Hum Genet. 2014 May;22(5):667-74. doi: 10.1038/ejhg.2013.198. Epub 2013 Sep 11. |
'