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| ASPsiRNA information |
siRNA Id: | aspsirna1894
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siRNA Name: | eMut
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | GACCACUUCGACCAGCAGG
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ASP-siRNA (As strand 3'->5'): | GACCACUUCGAACAGCAGG
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|
Mismatch position in siRNA: | A8C |
| Gene Information |
Gene Name | Collagen type I alpha 1 (COL1A1) |
|
Target Sequence (5'->3'): | TCTCCTGGTGAAGCTGGTCGTCCCGGTGAAGCTGGTCTGCCTGGTGC
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Wild allele (5'->3'): | CUGGUGAAGCUGGUCGUCC
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Mutant allele (5'->3'): | CUGGUGAAGCUUGUCGUCC
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|
Position of siRNA on target gene: | 1694-1712
|
| 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
|
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Matation type/variant: | single nucleotide variant/missense variant
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Mutation at gene level: | NG_007400.1:g.18527G>T
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Pathogenic status of mutation: | Pathogenic
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Disease: | Osteogenesis Imperfecta (OI) |
| Clinical Resources |
ClinVar ID: | 17299 |
|
KEGG disease ID: | H00506 |
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OMIM ID: | 615220 |
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COSMIC: | COL1A1 |
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DECIPHER: | COL1A1 |
|
GeneTests: | COL1A1 |
| ASP siRNA details |
Mutant allele (5'->3'): | CUGGUGAAGCUUGUCGUCC
|
|
ASP-siRNA (As strand 3'->5'): | GACCACUUCGAACAGCAGG
|
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Percentage efficacy of ASP-siRNA for mutant allele: | 60
|
|
Wild allele (5'->3'): | CUGGUGAAGCUGGUCGUCC
|
|
ASP-siRNA (As strand 3'->5'): | GACCACUUCGAACAGCAGG
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 15
|
|
Relative difference: | 45
|
| Wild siRNA details |
Wild allele (5'->3'): | CUGGUGAAGCUGGUCGUCC
|
|
Wild siRNA (As strand 3'->5'): | GACCACUUCGACCAGCAGG
|
|
Percentage efficacy of wild siRNA for wild allele: | 80
|
|
Wild allele (5'->3'): | CUGGUGAAGCUGGUCGUCC
|
|
ASP-siRNA (As strand 3'->5'): | GACCACUUCGAACAGCAGG
|
|
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: | Western blot |
| 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. |
'
