aspsirna3198 details

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ASPsiRNA information siRNA Id:aspsirna3198
siRNA Name: siRNA-r
Mismatch information Wild siRNA (As strand 3'->5'):GCACAGGAAGGUCGUCAGC
ASP-siRNA (As strand 3'->5'):GUACAGGAAGGUCGUCAGC
Mismatch position in siRNA: U18C
Gene Information Gene Name tumor protein p63 (TP63)
Target Sequence (5'->3'):CATCCCCTCCAACACCGACTACCCAGGCCCGCACAGTTTCGACG
Wild allele (5'->3'):CGUGUCCUUCCAGCAGUCG
Mutant allele (5'->3'):CAUGUCCUUCCAGCAGUCG
Position of siRNA on target gene: 393-411
Respective Gene/Protein Resources GenBank Accession:NM_001114980.1
Cytogenic location:3q28 
Chromosomal coordinates:3:189,566,860-189,897,278 
UniProt ID:Q9H3D4
HUGO ID:15979
Reference SNp(RefSNP): rs19392114
Disease/Mutation information Target Mutation: p.Arg132His,c.394G>A
Matation type/variant: Single nucleotide variant/Missense variant
Mutation at gene level: NG_007550.1:g.237903G>A
Pathogenic status of mutation: Pathogenic
Disease:Ectrodactyly-Ectodermal Dysplasia-Clefting syndrome 3 (EEC3)
Clinical Resources ClinVar ID:161514
KEGG disease ID:NA
OMIM ID: 604292
COSMIC: TP63
DECIPHER: TP63
GeneTests: TP63
ASP siRNA details Mutant allele (5'->3'): CAUGUCCUUCCAGCAGUCG
ASP-siRNA (As strand 3'->5'):GUACAGGAAGGUCGUCAGC
Percentage efficacy of ASP-siRNA for mutant allele:60
Wild allele (5'->3'): CGUGUCCUUCCAGCAGUCG
ASP-siRNA (As strand 3'->5'):GUACAGGAAGGUCGUCAGC
Percentage efficacy of ASP-siRNA for wild allele:30
Relative difference:30
Wild siRNA details Wild allele (5'->3'): CGUGUCCUUCCAGCAGUCG
Wild siRNA (As strand 3'->5'):GCACAGGAAGGUCGUCAGC
Percentage efficacy of wild siRNA for wild allele:45
Wild allele (5'->3'): CGUGUCCUUCCAGCAGUCG
ASP-siRNA (As strand 3'->5'):GUACAGGAAGGUCGUCAGC
Percentage efficacy of Wild sirna for mutant allele:65
Relative difference :-20
General information Mismatch incorporated in siRNA/Target:siRNA
Cell-line used: HEK293T
Experimental technique used: Western blot
Transfection method: Lipofectamine 2000
siRNA expression method: Exiqon
Post-transfection duration: 72 hours
Concentration used:100 microM
Reference:26891374
Delivery method:Transfection
Article title:Correction of mutant p63 in EEC syndrome using siRNA mediated allele specific silencing restores defective stem cell function
Authors:Barbaro V, Nasti AA, Del Vecchio C, Ferrari S, Migliorati A, Raffa P, Lariccia V, Nespeca P, Biasolo M, Willoughby CE4, Ponzin D, Palù G, Parolin C, Di Iorio E,.
Journal Reference:Stem Cells. 2016 Feb 17. doi: 10.1002/stem.2343