| | |
ASPsiRNA information |
siRNA Id: | aspsirna0362
|
siRNA Name: | Si15
|
Mismatch information |
Wild siRNA (As strand 3'->5'): | AGGUCCAUAGUUUCCAGGU
|
ASP-siRNA (As strand 3'->5'): | AGGUCCAUAGUUUCAAGGU
|
Mismatch position in siRNA: | A5C |
Gene Information |
Gene Name | Collagen, type III, alpha 1 (COL3A1) |
Target Sequence (5'->3'): | CCUGGACCUCCAGGUAUCAAAGGUCCAGCUGGGAUACCUGGAU
|
Wild allele (5'->3'): | UCCAGGUAUCAAAGGUCCA
|
Mutant allele (5'->3'): | UCCAGGUAUCAAAGUUCCA
|
Position of siRNA on target gene: | 858-876
|
Respective Gene/Protein Resources |
GenBank Accession: | NM_000090.3 |
Cytogenic location: | 2q32.2 |
Chromosomal coordinates: | 2:189,839,098-189,877,471 |
UniProt ID: | P02461 |
HUGO ID: | 2201 |
Reference SNp(RefSNP): | rs58777960 |
Disease/Mutation information |
Target Mutation: | c.764G>T,p.Gly255Val
|
Matation type/variant: | Single nucleotide variant/Missense variant
|
Mutation at gene level: | NG_007404.1:g.20954G>T
|
Pathogenic status of mutation: | Pathogenic
|
Disease: | Vascular Ehlers-Danlos Syndrome (vEDs) |
Clinical Resources |
ClinVar ID: | 101322 |
KEGG disease ID: | H00802 |
OMIM ID: | 130050 |
COSMIC: | COL3A1 |
DECIPHER: | COL3A1 |
GeneTests: | COL3A1 |
ASP siRNA details |
Mutant allele (5'->3'): | UCCAGGUAUCAAAGUUCCA
|
ASP-siRNA (As strand 3'->5'): | AGGUCCAUAGUUUCAAGGU
|
Percentage efficacy of ASP-siRNA for mutant allele: | 22
|
Wild allele (5'->3'): | UCCAGGUAUCAAAGGUCCA
|
ASP-siRNA (As strand 3'->5'): | AGGUCCAUAGUUUCAAGGU
|
Percentage efficacy of ASP-siRNA for wild allele: | 0
|
Relative difference: | 22
|
Wild siRNA details |
Wild allele (5'->3'): | UCCAGGUAUCAAAGGUCCA
|
Wild siRNA (As strand 3'->5'): | AGGUCCAUAGUUUCCAGGU
|
Percentage efficacy of wild siRNA for wild allele: | 47
|
Wild allele (5'->3'): | UCCAGGUAUCAAAGGUCCA
|
ASP-siRNA (As strand 3'->5'): | AGGUCCAUAGUUUCAAGGU
|
Percentage efficacy of Wild sirna for mutant allele: | 20
|
Relative difference : | 27
|
General information |
Mismatch incorporated in siRNA/Target: | siRNA |
Cell-line used: | Fibroblast |
Experimental technique used: | Dual luciferase reporter assay |
Transfection method: | Dharmafect 1 |
siRNA expression method: | Invitrogen |
Post-transfection duration: | 48 hours |
Concentration used: | 100nM |
Reference: | 22038052 |
Delivery method: | Transfection |
'Article title: | Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts. |
'Authors: | Müller GA, Hansen U, Xu Z, Griswold B, Talan MI, McDonnell NB, Briest W. |
'Journal Reference: | FASEB J. 2012 Feb;26(2):668-77. doi: 10.1096/fj.11-182162. Epub 2011 Oct 28. |
'