| | |
|---|
| ASPsiRNA information |
siRNA Id: | aspsirna0468
|
|
siRNA Name: | K5_579.g3
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | AGGACCUCGUCGUCUUGUU
|
|
ASP-siRNA (As strand 3'->5'): | AGGACCUCGUCGUCUUCUU
|
|
Mismatch position in siRNA: | C3G |
| Gene Information |
Gene Name | Keratin 5 (KRT5) |
|
Target Sequence (5'->3'): | GUGCGGUUCCUGGAGCAGCAGAACAAGGUUCUGGACACCAAGU
|
|
Wild allele (5'->3'): | UCCUGGAGCAGCAGAACAA
|
|
Mutant allele (5'->3'): | UCCUGGAGCAGCAGAAGAA
|
|
Position of siRNA on target gene: | 726-744
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_000424.3 |
| Cytogenic location: | 12q13.13 |
| Chromosomal coordinates: | 12:52,908,358-52,914,327 |
| UniProt ID: | P13647 |
| HUGO ID: | 6442 |
|
Reference SNp(RefSNP): | rs60586163 |
| Disease/Mutation information |
Target Mutation: | c.579C>G, p.Asn193Lys
|
|
Matation type/variant: | Single nucleotide variant/Missense variant
|
|
Mutation at gene level: | NG_008297.1:g.6323C>G
|
|
Pathogenic status of mutation: | Disease causing
|
|
Disease: | Epidermolysis bullosa simplex (EBS) |
| Clinical Resources |
ClinVar ID: | 66273 |
|
KEGG disease ID: | H00584 |
|
OMIM ID: | 131760 |
|
COSMIC: | KRT5 |
|
DECIPHER: | KRT5 |
|
GeneTests: | KRT5 |
| ASP siRNA details |
Mutant allele (5'->3'): | UCCUGGAGCAGCAGAAGAA
|
|
ASP-siRNA (As strand 3'->5'): | AGGACCUCGUCGUCUUCUU
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 40
|
|
Wild allele (5'->3'): | UCCUGGAGCAGCAGAACAA
|
|
ASP-siRNA (As strand 3'->5'): | AGGACCUCGUCGUCUUCUU
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 0
|
|
Relative difference: | 40
|
| Wild siRNA details |
Wild allele (5'->3'): | UCCUGGAGCAGCAGAACAA
|
|
Wild siRNA (As strand 3'->5'): | AGGACCUCGUCGUCUUGUU
|
|
Percentage efficacy of wild siRNA for wild allele: | NA
|
|
Wild allele (5'->3'): | UCCUGGAGCAGCAGAACAA
|
|
ASP-siRNA (As strand 3'->5'): | AGGACCUCGUCGUCUUCUU
|
|
Percentage efficacy of Wild sirna for mutant allele: | NA
|
|
Relative difference : | NA
|
| 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: | Eurofins MWG Operon |
| Post-transfection duration: | 24 hours |
| Concentration used: | 10 pM -6.25microM |
| Reference: | 21716320 |
| Delivery method: | Transfection |
'| Article title: | Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex. |
'| Authors: | Atkinson SD, McGilligan VE, Liao H, Szeverenyi I, Smith FJ, Moore CB, McLean WH. |
'| Journal Reference: | J Invest Dermatol. 2011 Oct;131(10):2079-86. doi: 10.1038/jid.2011.169. Epub 2011 Jun 30. |
'
