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| ASPsiRNA information |
siRNA Id: | aspsirna3134
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siRNA Name: | siRNA-T1
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | GCCUAGACACGAACGGGUC
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ASP-siRNA (As strand 3'->5'): | ACCUAGACACGAACGGGUC
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|
Mismatch position in siRNA: | A19G |
| Gene Information |
Gene Name | tumor protein p63 (TP63) |
|
Target Sequence (5'->3'): | TCCTGGGCCGACGCTGCTTTGAGGCCCGGATCTGTGCTTGCCC
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Wild allele (5'->3'): | CGGAUCUGUGCUUGCCCAG
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Mutant allele (5'->3'): | UGGAUCUGUGCUUGCCCAG
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Position of siRNA on target gene: | 886-904
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_001114980 |
| Cytogenic location: | 3q28 |
| Chromosomal coordinates: | 3:189,566,860-189,897,278 |
| UniProt ID: | Q9H3D4 |
| HUGO ID: | 15979 |
|
Reference SNp(RefSNP): | rs12190883 |
| Disease/Mutation information |
Target Mutation: | c.727C>T, p.Arg243Trp
|
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Matation type/variant: | Single nucleotide variant/Missense variant
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Mutation at gene level: | NG_007550.1:g.237953C>T
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Pathogenic status of mutation: | Pathogenic
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Disease: | Ectrodactily-ectodermal dysplasia and cleft lip/palate (EEC) |
| Clinical Resources |
ClinVar ID: | 6527 |
|
KEGG disease ID: | NA |
|
OMIM ID: | 604292 |
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COSMIC: | TP63 |
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DECIPHER: | TP63 |
|
GeneTests: | TP63 |
| ASP siRNA details |
Mutant allele (5'->3'): | UGGAUCUGUGCUUGCCCAG
|
|
ASP-siRNA (As strand 3'->5'): | ACCUAGACACGAACGGGUC
|
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Percentage efficacy of ASP-siRNA for mutant allele: | 35
|
|
Wild allele (5'->3'): | CGGAUCUGUGCUUGCCCAG
|
|
ASP-siRNA (As strand 3'->5'): | ACCUAGACACGAACGGGUC
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 72
|
|
Relative difference: | -37
|
| Wild siRNA details |
Wild allele (5'->3'): | CGGAUCUGUGCUUGCCCAG
|
|
Wild siRNA (As strand 3'->5'): | GCCUAGACACGAACGGGUC
|
|
Percentage efficacy of wild siRNA for wild allele: | 60
|
|
Wild allele (5'->3'): | CGGAUCUGUGCUUGCCCAG
|
|
ASP-siRNA (As strand 3'->5'): | ACCUAGACACGAACGGGUC
|
|
Percentage efficacy of Wild sirna for mutant allele: | 70
|
|
Relative difference : | -10
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | HEK-293E |
| Experimental technique used: | Dual luciferase reporter assay |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Chemically synthesized |
| Post-transfection duration: | 48 hours |
| Concentration used: | 40 nM |
| Reference: | 27195674 |
| Delivery method: | Transfection |
'| Article title: | Allele-specific silencing of EEC p63 mutant R304W restores p63 transcriptional activity |
'| Authors: | Novelli F, Lena AM, Panatta E, Nasser W, Shalom-Feuerstein R, Candi E, Melino G. |
'| Journal Reference: | Cell Death Dis. 2016 May 19;7:e2227. doi: 10.1038/cddis.2016.118 |
'
