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| ASPsiRNA information |
siRNA Id: | aspsirna3121
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|
siRNA Name: | K6a_513a.4
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | CUAGUUCUGGGAGUUGUUG
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ASP-siRNA (As strand 3'->5'): | CUAGUUCUGGGAGUUUUUG
|
|
Mismatch position in siRNA: | U4C |
| Gene Information |
Gene Name | Keratin 6a (KRT6a) |
|
Target Sequence (5'->3'): | AACAGATCAAGACCCTCAACAACAAGTTTGCCTC
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Wild allele (5'->3'): | GAUCAAGACCCUCAACAAC
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Mutant allele (5'->3'): | GAUCAAGACCCUCAAAAAC
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Position of siRNA on target gene: | 717-735
|
| 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: | Pathogenic
|
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Disease: | Pachyonychia congenita (PC) |
| Clinical Resources |
ClinVar ID: | 66589 |
|
KEGG disease ID: | H00684 |
|
OMIM ID: | 167200 |
|
COSMIC: | KRT6A |
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DECIPHER: | KRT6A |
|
GeneTests: | KRT6A |
| ASP siRNA details |
Mutant allele (5'->3'): | GAUCAAGACCCUCAAAAAC
|
|
ASP-siRNA (As strand 3'->5'): | CUAGUUCUGGGAGUUUUUG
|
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Percentage efficacy of ASP-siRNA for mutant allele: | 56
|
|
Wild allele (5'->3'): | GAUCAAGACCCUCAACAAC
|
|
ASP-siRNA (As strand 3'->5'): | CUAGUUCUGGGAGUUUUUG
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 42
|
|
Relative difference: | 14
|
| Wild siRNA details |
Wild allele (5'->3'): | GAUCAAGACCCUCAACAAC
|
|
Wild siRNA (As strand 3'->5'): | CUAGUUCUGGGAGUUGUUG
|
|
Percentage efficacy of wild siRNA for wild allele: | 46
|
|
Wild allele (5'->3'): | GAUCAAGACCCUCAACAAC
|
|
ASP-siRNA (As strand 3'->5'): | CUAGUUCUGGGAGUUUUUG
|
|
Percentage efficacy of Wild sirna for mutant allele: | 12
|
|
Relative difference : | 34
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | Transgenic mouse model |
| Experimental technique used: | Dual luciferase reporter assay |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Dharmacon |
| Post-transfection duration: | 48 hours |
| Concentration used: | 10 nM |
| Reference: | 19935778 |
| Delivery method: | intradermal injection |
'| Article title: | First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder |
'| Authors: | Leachman SA, Hickerson RP, Schwartz ME, Bullough EE, Hutcherson SL, Boucher KM, Hansen CD, Eliason MJ, Srivatsa GS,Kornbrust DJ, Smith FJ, McLean WI, Milstone LM, Kaspar RL |
'| Journal Reference: | Mol Ther. 2010 Feb;18(2):442-6. doi: 10.1038/mt.2009.273. Epub 2009 Nov 24 |
'
