| | |
|---|
| ASPsiRNA information |
siRNA Id: | aspsirna3113
|
|
siRNA Name: | K6a siRNA 2
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | GAUCAGGAUACUACAUGUU
|
| Gene Information |
Gene Name | Keratin 6a (KRT6a) |
|
Target Sequence (5'->3'): | CCCTCAACCTGCAAATCGATCCCACCATCC
|
|
Wild allele (5'->3'): | NA
|
|
Mutant allele (5'->3'): | CUAGUCCUAUGAUGUACAA
|
|
Position of siRNA on target gene: | NA
|
| 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): | NA |
| Disease/Mutation information |
Target Mutation: | NA
|
|
Matation type/variant: | NA
|
|
Mutation at gene level: | NA
|
|
Pathogenic status of mutation: | Pathogenic
|
|
Disease: | Pachyonychia congenita (PC) |
| Clinical Resources |
ClinVar ID: | NA |
|
KEGG disease ID: | H00684 |
|
OMIM ID: | 167200 |
|
COSMIC: | KRT6A |
|
DECIPHER: | KRT6A |
|
GeneTests: | KRT6A |
| ASP siRNA details |
Mutant allele (5'->3'): | CUAGUCCUAUGAUGUACAA
|
|
ASP-siRNA (As strand 3'->5'): | GAUCAGGAUACUACAUGUU
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 75
|
|
Wild allele (5'->3'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | GAUCAGGAUACUACAUGUU
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 30
|
|
Relative difference: | 45
|
| Wild siRNA details |
Wild allele (5'->3'): | NA
|
|
Wild siRNA (As strand 3'->5'): | NA
|
|
Percentage efficacy of wild siRNA for wild allele: | 50
|
|
Wild allele (5'->3'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | GAUCAGGAUACUACAUGUU
|
|
Percentage efficacy of Wild sirna for mutant allele: | 35
|
|
Relative difference : | 15
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | 293FT |
| Experimental technique used: | Dual luciferase reporter assay |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Dharmacon |
| Post-transfection duration: | 48 hours |
| Concentration used: | 1 nM |
| Reference: | 17762855 |
| Delivery method: | shRNA-encoding vector mediated delivery |
'| Article title: | Development of Therapeutic siRNAs for Pachyonychia Congenita |
'| Authors: | Smith FJ, Hickerson RP, Sayers JM, Reeves RE, Contag CH, Leake D, Kaspar RL, McLean WH |
'| Journal Reference: | J Invest Dermatol. 2008 Jan;128(1):50-8. Epub 2007 Aug 30 |
'
