| | |
ASPsiRNA information |
siRNA Id: | aspsirna3057
|
siRNA Name: | TGFBI-Arg124Cys-11
|
Mismatch information |
Wild siRNA (As strand 3'->5'): | UGUGCCUGGCGUGCCUCUU
|
ASP-siRNA (As strand 3'->5'): | UGUGCCUGACGUGCCUCUU
|
Mismatch position in siRNA: | A11G |
Gene Information |
Gene Name | Transforming growth factor beta induced (TGFBI) |
Target Sequence (5'->3'): | ACUCAGCUGUACACGGACC
|
Wild allele (5'->3'): | ACACGGACCGCACGGAGAA
|
Mutant allele (5'->3'): | ACACGGACUGCACGGAGAA
|
Position of siRNA on target gene: | 513-531
|
Respective Gene/Protein Resources |
GenBank Accession: | NM_000358.2 |
Cytogenic location: | 5q31.1 |
Chromosomal coordinates: | 5:136,028,894-136,063,817 |
UniProt ID: | Q15582 |
HUGO ID: | 11771 |
Reference SNp(RefSNP): | rs12190921 |
Disease/Mutation information |
Target Mutation: | c.370C>T,p.Arg124Cys
|
Matation type/variant: | Single nucleotide variant/Missense variant
|
Mutation at gene level: | NG_012646.1:g.22512C>T
|
Pathogenic status of mutation: | Pathogenic
|
Disease: | Lattice corneal dystrophy type I (LCDI) |
Clinical Resources |
ClinVar ID: | 7868 |
KEGG disease ID: | H00956 |
OMIM ID: | 122200 |
COSMIC: | TGFBI |
DECIPHER: | TGFBI |
GeneTests: | TGFBI |
ASP siRNA details |
Mutant allele (5'->3'): | ACACGGACUGCACGGAGAA
|
ASP-siRNA (As strand 3'->5'): | UGUGCCUGACGUGCCUCUU
|
Percentage efficacy of ASP-siRNA for mutant allele: | 65
|
Wild allele (5'->3'): | ACACGGACCGCACGGAGAA
|
ASP-siRNA (As strand 3'->5'): | UGUGCCUGACGUGCCUCUU
|
Percentage efficacy of ASP-siRNA for wild allele: | 35
|
Relative difference: | 30
|
Wild siRNA details |
Wild allele (5'->3'): | ACACGGACCGCACGGAGAA
|
Wild siRNA (As strand 3'->5'): | UGUGCCUGGCGUGCCUCUU
|
Percentage efficacy of wild siRNA for wild allele: | 50
|
Wild allele (5'->3'): | ACACGGACCGCACGGAGAA
|
ASP-siRNA (As strand 3'->5'): | UGUGCCUGACGUGCCUCUU
|
Percentage efficacy of Wild sirna for mutant allele: | 45
|
Relative difference : | 5
|
General information |
Mismatch incorporated in siRNA/Target: | siRNA |
Cell-line used: | AD293 |
Experimental technique used: | Dual luciferase reporter assay |
Transfection method: | Lipofectamine 2000 |
siRNA expression method: | MWG Biotech |
Post-transfection duration: | 24 hours |
Concentration used: | 6.25 nM |
Reference: | 24425855 |
Delivery method: | Transfection |
'Article title: | Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I |
'Authors: | Courtney DG, Atkinson SD, Moore JE, Maurizi E, Serafini C, Pellegrini G, Black GC, Manson FD, Yam GH, Macewen CJ, Allen EH, McLean WH, Moore CB |
'Journal Reference: | Invest Ophthalmol Vis Sci. 2014 Feb 18;55(2):977-85. doi: 10.1167/iovs.13-13279 |
'