| | |
ASPsiRNA information |
siRNA Id: | aspsirna3248
|
siRNA Name: | siY167delinsWL-9
|
Mismatch information |
Wild siRNA (As strand 3'->5'): | CGGAGAAUGAACCUAU
|
ASP-siRNA (As strand 3'->5'): | CGGAGAACCGAGAACCUAU
|
Mismatch position in siRNA: | delAinsGGCT |
Gene Information |
Gene Name | keratin 9 (KRT9) |
Target Sequence (5'->3'): | CTCGGCTGGCCTCTTACTTGGATAAGGTGCAGGCT
|
Wild allele (5'->3'): | GCCUCUUACUUGGAUA
|
Mutant allele (5'->3'): | GCCUCUUGGCUCUUGGAUA
|
Position of siRNA on target gene: | 559-574
|
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): | rs59317143 |
Disease/Mutation information |
Target Mutation: | c.500delAinsGGCT,p.Tyr167delinsTrpLeu
|
Matation type/variant: | InDel/inframe_variant
|
Mutation at gene level: | NG_008300.1:g.5566delAinsGGCT
|
Pathogenic status of mutation: | Pathogenic
|
Disease: | Epidermolytic palmoplantar keratoderma (EPPK) |
Clinical Resources |
ClinVar ID: | 66157 |
KEGG disease ID: | H00722 |
OMIM ID: | 144200 |
COSMIC: | KRT9 |
DECIPHER: | KRT9 |
GeneTests: | KRT9 |
ASP siRNA details |
Mutant allele (5'->3'): | GCCUCUUGGCUCUUGGAUA
|
ASP-siRNA (As strand 3'->5'): | CGGAGAACCGAGAACCUAU
|
Percentage efficacy of ASP-siRNA for mutant allele: | 30
|
Wild allele (5'->3'): | GCCUCUUACUUGGAUA
|
ASP-siRNA (As strand 3'->5'): | CGGAGAACCGAGAACCUAU
|
Percentage efficacy of ASP-siRNA for wild allele: | 15
|
Relative difference: | 15
|
Wild siRNA details |
Wild allele (5'->3'): | GCCUCUUACUUGGAUA
|
Wild siRNA (As strand 3'->5'): | CGGAGAAUGAACCUAU
|
Percentage efficacy of wild siRNA for wild allele: | 30
|
Wild allele (5'->3'): | GCCUCUUACUUGGAUA
|
ASP-siRNA (As strand 3'->5'): | CGGAGAACCGAGAACCUAU
|
Percentage efficacy of Wild sirna for mutant allele: | 30
|
Relative difference : | 0
|
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: | Genechem |
Post-transfection duration: | 48 hours |
Concentration used: | 0 - 6.25 nM |
Reference: | 27003758 |
Delivery method: | Transfection |
'Article title: | A Small Indel Mutant Mouse Model of Epidermolytic Palmoplantar Keratoderma and Its Application to Mutant-specific shRNA Therapy |
'Authors: | Ya-Su Lyu, Pei-liang Shi, Xiao-Ling Chen, Yue-Xiao Tang, Yan-Fang Wang, Rong-Rong Liu, Xiao-Rui Luan, Yu Fang4, Ru-Huan Mei4 Zhen-Fang Du, Hai-Ping Ke5, Erik Matro6, Ling-En Li, Zhao-Yu Lin, Jing Zhao, Xiang Gao and Xian-Ning Zhang |
'Journal Reference: | Mol Ther Nucleic Acids. 2016 Mar 22;5:e299. doi: 10.1038/mtna.2016.17 |
'