| | |
ASPsiRNA information |
siRNA Id: | aspsirna0452
|
siRNA Name: | K5_541.c6
|
Mismatch information |
Wild siRNA (As strand 3'->5'): | GUUAUUCAAACGGAGGAAG
|
ASP-siRNA (As strand 3'->5'): | GUUAUUCAAACGGGGGAAG
|
Mismatch position in siRNA: | G6A |
Gene Information |
Gene Name | Keratin 5 (KRT5) |
Target Sequence (5'->3'): | GACCCUCAACAAUAAGUUUGCCUCCUUCAUCGACAAGGUGCGG
|
Wild allele (5'->3'): | CAAUAAGUUUGCCUCCUUC
|
Mutant allele (5'->3'): | CAAUAAGUUUGCCCCCUUC
|
Position of siRNA on target gene: | 691-709
|
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): | rs60715293 |
Disease/Mutation information |
Target Mutation: | c.541T>C ,p.Ser181Pro
|
Matation type/variant: | Single nucleotide variant/Missense variant
|
Mutation at gene level: | NG_008297.1:g.5704T>C
|
Pathogenic status of mutation: | Pathogenic
|
Disease: | Epidermolysis bullosa simplex (EBS) |
Clinical Resources |
ClinVar ID: | 14650 |
KEGG disease ID: | H00584 |
OMIM ID: | 131760 |
COSMIC: | KRT5 |
DECIPHER: | KRT5 |
GeneTests: | KRT5 |
ASP siRNA details |
Mutant allele (5'->3'): | CAAUAAGUUUGCCCCCUUC
|
ASP-siRNA (As strand 3'->5'): | GUUAUUCAAACGGGGGAAG
|
Percentage efficacy of ASP-siRNA for mutant allele: | 70
|
Wild allele (5'->3'): | CAAUAAGUUUGCCUCCUUC
|
ASP-siRNA (As strand 3'->5'): | GUUAUUCAAACGGGGGAAG
|
Percentage efficacy of ASP-siRNA for wild allele: | 42
|
Relative difference: | 28
|
Wild siRNA details |
Wild allele (5'->3'): | CAAUAAGUUUGCCUCCUUC
|
Wild siRNA (As strand 3'->5'): | GUUAUUCAAACGGAGGAAG
|
Percentage efficacy of wild siRNA for wild allele: | NA
|
Wild allele (5'->3'): | CAAUAAGUUUGCCUCCUUC
|
ASP-siRNA (As strand 3'->5'): | GUUAUUCAAACGGGGGAAG
|
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. |
'