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| ASPsiRNA information |
siRNA Id: | aspsirna0448
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|
siRNA Name: | K5_541.c2
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | AGUUGUUAUUCAAACGGAG
|
|
ASP-siRNA (As strand 3'->5'): | AGUUGUUAUUCAAACGGGG
|
|
Mismatch position in siRNA: | G2A |
| Gene Information |
Gene Name | Keratin 5 (KRT5) |
|
Target Sequence (5'->3'): | GACCCUCAACAAUAAGUUUGCCUCCUUCAUCGACAAGGUGCGG
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|
Wild allele (5'->3'): | UCAACAAUAAGUUUGCCUC
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Mutant allele (5'->3'): | UCAACAAUAAGUUUGCCCC
|
|
Position of siRNA on target gene: | 687-705
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_000424.3 |
| Cytogenic location: | 12q13.13 |
| Chromosomal coordinates: | 12:52,908,358-52,914,327 |
| UniProt ID: | P13647 |
| HUGO ID: | 6442 |
|
Reference SNp(RefSNP): | rs60715293 |
| Disease/Mutation information |
Target Mutation: | c.541T>C ,p.Ser181Pro
|
|
Matation type/variant: | Single nucleotide variant/Missense variant
|
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Mutation at gene level: | NG_008297.1:g.5704T>C
|
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Pathogenic status of mutation: | Pathogenic
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|
Disease: | Epidermolysis bullosa simplex (EBS) |
| Clinical Resources |
ClinVar ID: | 14650 |
|
KEGG disease ID: | H00584 |
|
OMIM ID: | 131760 |
|
COSMIC: | KRT5 |
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DECIPHER: | KRT5 |
|
GeneTests: | KRT5 |
| ASP siRNA details |
Mutant allele (5'->3'): | UCAACAAUAAGUUUGCCCC
|
|
ASP-siRNA (As strand 3'->5'): | AGUUGUUAUUCAAACGGGG
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 0
|
|
Wild allele (5'->3'): | UCAACAAUAAGUUUGCCUC
|
|
ASP-siRNA (As strand 3'->5'): | AGUUGUUAUUCAAACGGGG
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 40
|
|
Relative difference: | -40
|
| Wild siRNA details |
Wild allele (5'->3'): | UCAACAAUAAGUUUGCCUC
|
|
Wild siRNA (As strand 3'->5'): | AGUUGUUAUUCAAACGGAG
|
|
Percentage efficacy of wild siRNA for wild allele: | NA
|
|
Wild allele (5'->3'): | UCAACAAUAAGUUUGCCUC
|
|
ASP-siRNA (As strand 3'->5'): | AGUUGUUAUUCAAACGGGG
|
|
Percentage efficacy of Wild sirna for mutant allele: | NA
|
|
Relative difference : | NA
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | AD293 |
| Experimental technique used: | Dual luciferase reporter assay |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Eurofins MWG Operon |
| Post-transfection duration: | 24 hours |
| Concentration used: | 10 pM -6.25microM |
| Reference: | 21716320 |
| Delivery method: | Transfection |
'| Article title: | Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex. |
'| Authors: | Atkinson SD, McGilligan VE, Liao H, Szeverenyi I, Smith FJ, Moore CB, McLean WH. |
'| Journal Reference: | J Invest Dermatol. 2011 Oct;131(10):2079-86. doi: 10.1038/jid.2011.169. Epub 2011 Jun 30. |
'
