| | |
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| ASPsiRNA information |
siRNA Id: | aspsirna3192
|
|
siRNA Name: | siRNA-l
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | AAAGCUGCACAGGAAGGUC
|
|
ASP-siRNA (As strand 3'->5'): | AAAGCUGUACAGGAAGGUC
|
|
Mismatch position in siRNA: | U12C |
| Gene Information |
Gene Name | tumor protein p63 (TP63) |
|
Target Sequence (5'->3'): | CATCCCCTCCAACACCGACTACCCAGGCCCGCACAGTTTCGACG
|
|
Wild allele (5'->3'): | UUUCGACGUGUCCUUCCAG
|
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Mutant allele (5'->3'): | UUUCGACAUGUCCUUCCAG
|
|
Position of siRNA on target gene: | 387-405
|
| 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
|
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Matation type/variant: | Single nucleotide variant/Missense variant
|
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Mutation at gene level: | NG_007550.1:g.237903G>A
|
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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'): | UUUCGACAUGUCCUUCCAG
|
|
ASP-siRNA (As strand 3'->5'): | AAAGCUGUACAGGAAGGUC
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 88
|
|
Wild allele (5'->3'): | UUUCGACGUGUCCUUCCAG
|
|
ASP-siRNA (As strand 3'->5'): | AAAGCUGUACAGGAAGGUC
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 40
|
|
Relative difference: | 48
|
| Wild siRNA details |
Wild allele (5'->3'): | UUUCGACGUGUCCUUCCAG
|
|
Wild siRNA (As strand 3'->5'): | AAAGCUGCACAGGAAGGUC
|
|
Percentage efficacy of wild siRNA for wild allele: | 45
|
|
Wild allele (5'->3'): | UUUCGACGUGUCCUUCCAG
|
|
ASP-siRNA (As strand 3'->5'): | AAAGCUGUACAGGAAGGUC
|
|
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 |
'
