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| ASPsiRNA information |
siRNA Id: | aspsirna0307
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siRNA Name: | siCOL7A1 delta 87mut13
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| Mismatch information |
Wild siRNA (As strand 3'->5'): | CCUCGGGACCACACGGUCCCAGUGGUCCG
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ASP-siRNA (As strand 3'->5'): | CCUCGGGACCACACGGU---CG
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Mismatch position in siRNA: | NA |
| Gene Information |
Gene Name | Collagen type VII alpha 1 (COL7A1) |
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Target Sequence (5'->3'): | GGGAGCCCUGGUGUGCCAGGGUCACCAG
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Wild allele (5'->3'): | GGAGCCCUGGUGUGCCAGGGUCACCAGGC
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Mutant allele (5'->3'): | GGAGCCCUGGUGUGCCA---GC
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Position of siRNA on target gene: | 6833-6842
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| Respective Gene/Protein Resources |
GenBank Accession: | NM_000094.3 |
| Cytogenic location: | 3p21.31 |
| Chromosomal coordinates: | 3:48,601,505-48,632,592 |
| UniProt ID: | Q02388 |
| HUGO ID: | 2214 |
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Reference SNp(RefSNP): | rs12191283 |
| Disease/Mutation information |
Target Mutation: | c.6752G>A,p.Gly2251Glu
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Matation type/variant: | Single nucleotide variant/Missense variant
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Mutation at gene level: | NG_007065.1:g.27312G>A
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Pathogenic status of mutation: | Pathogenic
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Disease: | Dominant dystrophic epidermolysis bullosa(DDEB) |
| Clinical Resources |
ClinVar ID: | 17436 |
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KEGG disease ID: | H00584 |
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OMIM ID: | 131750 |
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COSMIC: | COL7A1 |
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DECIPHER: | COL7A1 |
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GeneTests: | COL7A1 |
| ASP siRNA details |
Mutant allele (5'->3'): | GGAGCCCUGGUGUGCCA---GC
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ASP-siRNA (As strand 3'->5'): | CCUCGGGACCACACGGU---CG
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Percentage efficacy of ASP-siRNA for mutant allele: | 30
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Wild allele (5'->3'): | GGAGCCCUGGUGUGCCAGGGUCACCAGGC
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ASP-siRNA (As strand 3'->5'): | CCUCGGGACCACACGGU---CG
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Percentage efficacy of ASP-siRNA for wild allele: | 18
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Relative difference: | 12
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| Wild siRNA details |
Wild allele (5'->3'): | GGAGCCCUGGUGUGCCAGGGUCACCAGGC
|
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Wild siRNA (As strand 3'->5'): | CCUCGGGACCACACGGUCCCAGUGGUCCG
|
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Percentage efficacy of wild siRNA for wild allele: | Moderate efficacy
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Wild allele (5'->3'): | GGAGCCCUGGUGUGCCAGGGUCACCAGGC
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ASP-siRNA (As strand 3'->5'): | CCUCGGGACCACACGGU---CG
|
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Percentage efficacy of Wild sirna for mutant allele: | Moderate efficacy
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Relative difference : | Poor discrimination
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| General information |
Mismatch incorporated in siRNA/Target: | nil |
| Cell-line used: | 293T |
| Experimental technique used: | RT-PCR |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Invitrogen,Sigma |
| Post-transfection duration: | 48 hours |
| Concentration used: | 10nM |
| Reference: | 22336946 |
| Delivery method: | Transfection |
'| Article title: | siRNA-mediated allele-specific inhibition of mutant type VII collagen in dominant dystrophic epidermolysis bullosa. |
'| Authors: | Pendaries V, Gasc G, Titeux M, Tonasso L, Mejía JE, Hovnanian A. |
'| Journal Reference: | J Invest Dermatol. 2012 Jun;132(6):1741-3. doi: 10.1038/jid.2012.11. Epub 2012 Feb 16. |
'
