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| ASPsiRNA information |
siRNA Id: | aspsirna3254
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|
siRNA Name: | siY167delinsWL-15
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | AUGAACCUAUUCCACG
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ASP-siRNA (As strand 3'->5'): | ACCGAGAACCUAUUCCACG
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|
Mismatch position in siRNA: | delAinsGGCT |
| Gene Information |
Gene Name | keratin 9 (KRT9) |
|
Target Sequence (5'->3'): | CTCGGCTGGCCTCTTACTTGGATAAGGTGCAGGCT
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Wild allele (5'->3'): | UACUUGGAUAAGGUGC
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Mutant allele (5'->3'): | UGGCUCUUGGAUAAGGUGC
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|
Position of siRNA on target gene: | 565-580
|
| 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
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Matation type/variant: | InDel/inframe_variant
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Mutation at gene level: | NG_008300.1:g.5566delAinsGGCT
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Pathogenic status of mutation: | Pathogenic
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Disease: | Epidermolytic palmoplantar keratoderma (EPPK) |
| Clinical Resources |
ClinVar ID: | 66157 |
|
KEGG disease ID: | H00722 |
|
OMIM ID: | 144200 |
|
COSMIC: | KRT9 |
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DECIPHER: | KRT9 |
|
GeneTests: | KRT9 |
| ASP siRNA details |
Mutant allele (5'->3'): | UGGCUCUUGGAUAAGGUGC
|
|
ASP-siRNA (As strand 3'->5'): | ACCGAGAACCUAUUCCACG
|
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Percentage efficacy of ASP-siRNA for mutant allele: | 0
|
|
Wild allele (5'->3'): | UACUUGGAUAAGGUGC
|
|
ASP-siRNA (As strand 3'->5'): | ACCGAGAACCUAUUCCACG
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 20
|
|
Relative difference: | -20
|
| Wild siRNA details |
Wild allele (5'->3'): | UACUUGGAUAAGGUGC
|
|
Wild siRNA (As strand 3'->5'): | AUGAACCUAUUCCACG
|
|
Percentage efficacy of wild siRNA for wild allele: | 30
|
|
Wild allele (5'->3'): | UACUUGGAUAAGGUGC
|
|
ASP-siRNA (As strand 3'->5'): | ACCGAGAACCUAUUCCACG
|
|
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 |
'
