| | |
|---|
| ASPsiRNA information |
siRNA Id: | aspsirna0598
|
|
siRNA Name: | siK9-p.R163Q-4
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | UCCUUGAGUUAAGAGCCGA
|
|
ASP-siRNA (As strand 3'->5'): | UCCUUGAGUUAAGAGUCGA
|
|
Mismatch position in siRNA: | U4C |
| Gene Information |
Gene Name | Keratin 9 (KRT9) |
|
Target Sequence (5'->3'): | CCATGCAGGAACTCAATTCTCGGCTGGCCTCTTACTTGGATA
|
|
Wild allele (5'->3'): | AGGAACUCAAUUCUCGGCU
|
|
Mutant allele (5'->3'): | AGGAACUCAAUUCUCAGCU
|
|
Position of siRNA on target gene: | 539-557
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_000226.3 |
| Cytogenic location: | 17q21.2 |
| Chromosomal coordinates: | 17:39,722,092-39,728,309 |
| UniProt ID: | P35527 |
| HUGO ID: | 6447 |
|
Reference SNp(RefSNP): | rs57758262 |
| Disease/Mutation information |
Target Mutation: | c.488G>A,p.Arg163Gln
|
|
Matation type/variant: | Single nucleotide variant/Missense variant
|
|
Mutation at gene level: | NG_008300.1:g.5554G>A
|
|
Pathogenic status of mutation: | Pathogenic
|
|
Disease: | Epidermolytic palmoplantar keratoderma (EPPK) |
| Clinical Resources |
ClinVar ID: | 3001 |
|
KEGG disease ID: | H00722 |
|
OMIM ID: | 144200 |
|
COSMIC: | KRT9 |
|
DECIPHER: | KRT9 |
|
GeneTests: | KRT9 |
| ASP siRNA details |
Mutant allele (5'->3'): | AGGAACUCAAUUCUCAGCU
|
|
ASP-siRNA (As strand 3'->5'): | UCCUUGAGUUAAGAGUCGA
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 82
|
|
Wild allele (5'->3'): | AGGAACUCAAUUCUCGGCU
|
|
ASP-siRNA (As strand 3'->5'): | UCCUUGAGUUAAGAGUCGA
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 50
|
|
Relative difference: | 32
|
| Wild siRNA details |
Wild allele (5'->3'): | AGGAACUCAAUUCUCGGCU
|
|
Wild siRNA (As strand 3'->5'): | UCCUUGAGUUAAGAGCCGA
|
|
Percentage efficacy of wild siRNA for wild allele: | 67
|
|
Wild allele (5'->3'): | AGGAACUCAAUUCUCGGCU
|
|
ASP-siRNA (As strand 3'->5'): | UCCUUGAGUUAAGAGUCGA
|
|
Percentage efficacy of Wild sirna for mutant allele: | 30
|
|
Relative difference : | 37
|
| 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: | Dharmacon |
| Post-transfection duration: | 24 hours |
| Concentration used: | 0-6.25nM |
| Reference: | 22402445 |
| Delivery method: | Transfection |
'| Article title: | Generic and personalized RNAi-based therapeutics for a dominant-negative epidermal fragility disorder. |
'| Authors: | Leslie Pedrioli DM, Fu DJ, Gonzalez-Gonzalez E, Contag CH, Kaspar RL, Smith FJ, McLean WH. |
'| Journal Reference: | J Invest Dermatol. 2012 Jun;132(6):1627-35. doi: 10.1038/jid.2012.28. Epub 2012 Mar 8. |
'
