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| ASPsiRNA information |
siRNA Id: | aspsirna0880
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siRNA Name: | K6a_513a.5
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| Mismatch information |
Wild siRNA (As strand 3'->5'): | UAGUUCUGGGAGUUGUUGU
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ASP-siRNA (As strand 3'->5'): | UAGUUCUGGGAGUUUUUGU
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Mismatch position in siRNA: | U5C |
| Gene Information |
Gene Name | Keratin 6a (KRT6a) |
|
Target Sequence (5'->3'): | AACAGATCAAGACCCTCAACAACAAGTTTGCCTC
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Wild allele (5'->3'): | AUCAAGACCCUCAACAACA
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Mutant allele (5'->3'): | AUCAAGACCCUCAAAAACA
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Position of siRNA on target gene: | 718-736
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_005554.3 |
| Cytogenic location: | 12q13.13 |
| Chromosomal coordinates: | 12:52,880,957-52,887,180 |
| UniProt ID: | P02538 |
| HUGO ID: | 6443 |
|
Reference SNp(RefSNP): | rs59685571 |
| Disease/Mutation information |
Target Mutation: | c.513C>A,p.Asn171Lys
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Matation type/variant: | Single nucleotide variant/Missense variant
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Mutation at gene level: | NG_008298.1:g.5722C>A
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Pathogenic status of mutation: | Disease causing N171K mutation in K6a gene
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Disease: | Pachyonychia congenita (PC) |
| Clinical Resources |
ClinVar ID: | 66589 |
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KEGG disease ID: | H00684 |
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OMIM ID: | 167200 |
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COSMIC: | KRT6a |
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DECIPHER: | KRT6a |
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GeneTests: | KRT6a |
| ASP siRNA details |
Mutant allele (5'->3'): | AUCAAGACCCUCAAAAACA
|
|
ASP-siRNA (As strand 3'->5'): | UAGUUCUGGGAGUUUUUGU
|
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Percentage efficacy of ASP-siRNA for mutant allele: | 67
|
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Wild allele (5'->3'): | AUCAAGACCCUCAACAACA
|
|
ASP-siRNA (As strand 3'->5'): | UAGUUCUGGGAGUUUUUGU
|
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Percentage efficacy of ASP-siRNA for wild allele: | 39
|
|
Relative difference: | 28
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| Wild siRNA details |
Wild allele (5'->3'): | AUCAAGACCCUCAACAACA
|
|
Wild siRNA (As strand 3'->5'): | UAGUUCUGGGAGUUGUUGU
|
|
Percentage efficacy of wild siRNA for wild allele: | 46
|
|
Wild allele (5'->3'): | AUCAAGACCCUCAACAACA
|
|
ASP-siRNA (As strand 3'->5'): | UAGUUCUGGGAGUUUUUGU
|
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Percentage efficacy of Wild sirna for mutant allele: | 12
|
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Relative difference : | 34
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA
|
| Cell-line used: | 293T |
| Experimental technique used: | Dual luciferase reporter assay |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Dharmacon |
| Post-transfection duration: | 48 hours |
| Concentration used: | 150ng |
| Reference: | 17914454 |
| Delivery method: | Transfection |
| Article title: | Single-nucleotide-specific siRNA targeting in a dominant-negative skin model. |
| Authors: | Hickerson RP, Smith FJ, Reeves RE, Contag CH, Leake D, Leachman SA, Milstone LM, McLean WH, Kaspar RL. |
| Journal Reference: | J Invest Dermatol. 2008 Mar;128(3):594-605. Epub 2007 Oct 11. |
