| | |
|---|
| ASPsiRNA information |
siRNA Id: | aspsirna0892
|
|
siRNA Name: | K6a_513a.17
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | UUGUUGUUCAAACGGAGGA
|
|
ASP-siRNA (As strand 3'->5'): | UUUUUGUUCAAACGGAGGA
|
|
Mismatch position in siRNA: | U17C |
| Gene Information |
Gene Name | Keratin 6a (KRT6a) |
|
Target Sequence (5'->3'): | AACAGATCAAGACCCTCAACAACAAGTTTGCCTC
|
|
Wild allele (5'->3'): | AACAACAAGUUUGCCUCCU
|
|
Mutant allele (5'->3'): | AAAAACAAGUUUGCCUCCU
|
|
Position of siRNA on target gene: | 730-748
|
| 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
|
|
Matation type/variant: | Deletion/inframe variant
|
|
Mutation at gene level: | NG_008298.1:g.5722C>A
|
|
Pathogenic status of mutation: | Disease causing N171K mutation in K6a gene
|
|
Disease: | Pachyonychia congenita (PC) |
| Clinical Resources |
ClinVar ID: | 66589 |
|
KEGG disease ID: | H00684 |
|
OMIM ID: | 167200 |
|
COSMIC: | KRT6a |
|
DECIPHER: | KRT6a |
|
GeneTests: | KRT6a |
| ASP siRNA details |
Mutant allele (5'->3'): | AAAAACAAGUUUGCCUCCU
|
|
ASP-siRNA (As strand 3'->5'): | UUUUUGUUCAAACGGAGGA
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 53
|
|
Wild allele (5'->3'): | AACAACAAGUUUGCCUCCU
|
|
ASP-siRNA (As strand 3'->5'): | UUUUUGUUCAAACGGAGGA
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 34
|
|
Relative difference: | 19
|
| Wild siRNA details |
Wild allele (5'->3'): | AACAACAAGUUUGCCUCCU
|
|
Wild siRNA (As strand 3'->5'): | UUGUUGUUCAAACGGAGGA
|
|
Percentage efficacy of wild siRNA for wild allele: | 46
|
|
Wild allele (5'->3'): | AACAACAAGUUUGCCUCCU
|
|
ASP-siRNA (As strand 3'->5'): | UUUUUGUUCAAACGGAGGA
|
|
Percentage efficacy of Wild sirna for mutant allele: | 12
|
|
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: | Lentiviral vector delivery |
'| 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. |
'
