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| ASPsiRNA information |
siRNA Id: | aspsirna0340
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siRNA Name: | SiRNA-mut
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| Mismatch information |
Wild siRNA (As strand 3'->5'): | CUCACUACGCCUUCUUCCC
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ASP-siRNA (As strand 3'->5'): | CUCACUACGUCUUCUUCCC
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|
Mismatch position in siRNA: | U10C |
| Gene Information |
Gene Name | Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) |
|
Target Sequence (5'->3'): | GATGGTTCGAGUGAUGCGGAAGAAGGG
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Wild allele (5'->3'): | GAGUGAUGCGGAAGAAGGG
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Mutant allele (5'->3'): | GAGUGAUGCAGAAGAAGGG
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Position of siRNA on target gene: | 993-1011
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_001128227.2 |
| Cytogenic location: | 9p13.3 |
| Chromosomal coordinates: | 9:36,214,437-36,277,052 |
| UniProt ID: | Q9Y223 |
| HUGO ID: | 23657 |
|
Reference SNp(RefSNP): | rs12190862 |
| Disease/Mutation information |
Target Mutation: | c.830G>A,p.Arg277Gln
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Matation type/variant: | Single nucleotide variant/Missense variant
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Mutation at gene level: | NG_008246.1:g.45181G>A
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Pathogenic status of mutation: | Pathogenic
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Disease: | Sialuria |
| Clinical Resources |
ClinVar ID: | 6030 |
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KEGG disease ID: | H00147 |
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OMIM ID: | 269921 |
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COSMIC: | GNE |
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DECIPHER: | GNE |
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GeneTests: | GNE |
| ASP siRNA details |
Mutant allele (5'->3'): | GAGUGAUGCAGAAGAAGGG
|
|
ASP-siRNA (As strand 3'->5'): | CUCACUACGUCUUCUUCCC
|
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Percentage efficacy of ASP-siRNA for mutant allele: | 85
|
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Wild allele (5'->3'): | GAGUGAUGCGGAAGAAGGG
|
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ASP-siRNA (As strand 3'->5'): | CUCACUACGUCUUCUUCCC
|
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Percentage efficacy of ASP-siRNA for wild allele: | 10
|
|
Relative difference: | 75
|
| Wild siRNA details |
Wild allele (5'->3'): | GAGUGAUGCGGAAGAAGGG
|
|
Wild siRNA (As strand 3'->5'): | CUCACUACGCCUUCUUCCC
|
|
Percentage efficacy of wild siRNA for wild allele: | 33
|
|
Wild allele (5'->3'): | GAGUGAUGCGGAAGAAGGG
|
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ASP-siRNA (As strand 3'->5'): | CUCACUACGUCUUCUUCCC
|
|
Percentage efficacy of Wild sirna for mutant allele: | 18
|
|
Relative difference : | 15
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | Fibroblast |
| Experimental technique used: | GNE enzyme assay |
| Transfection method: | Nucleofector solution |
| siRNA expression method: | Qiagen |
| Post-transfection duration: | 48 hours |
| Concentration used: | 1.5mg |
| Reference: | 18653764 |
| Delivery method: | Lentivirus expressing siRNA |
'| Article title: | Allele-specific silencing of the dominant disease allele in sialuria by RNA interference |
'| Authors: | Klootwijk RD, Savelkoul PJ, Ciccone C, Manoli I, Caplen NJ, Krasnewich DM, Gahl WA, Huizing M |
'| Journal Reference: | FASEB J. 2008 Nov;22(11):3846-52. doi: 10.1096/fj.08-110890. Epub 2008 Jul 24 |
'
