| | |
ASPsiRNA information |
siRNA Id: | aspsirna0653
|
siRNA Name: | SiRNA-A13
|
Mismatch information |
Wild siRNA (As strand 3'->5'): | UGGGAUGAGCCGACGGAAG
|
ASP-siRNA (As strand 3'->5'): | UGGGAUAAGCCGACGGAAG
|
Mismatch position in siRNA: | A13G |
Gene Information |
Gene Name | Potasium channel voltage-gated subfamily h member 2(KCNH2) |
Target Sequence (5'->3'): | ACTCGGCTGCCTTCCTGCTGAAGGAGACGG
|
Wild allele (5'->3'): | ACCCUACUCGGCUGCCUUC
|
Mutant allele (5'->3'): | ACCCUAUUCGGCUGCCUUC
|
Position of siRNA on target gene: | NA
|
Respective Gene/Protein Resources |
GenBank Accession: | NM_001204798.1 |
Cytogenic location: | 7q36.1 |
Chromosomal coordinates: | 7:150,642,043-150,675,401 |
UniProt ID: | Q12809 |
HUGO ID: | 6251 |
Reference SNp(RefSNP): | rs12191250 |
Disease/Mutation information |
Target Mutation: | c.1682C>T ,p.Ala561Val
|
Matation type/variant: | Single nucleotide variant/Missense variant
|
Mutation at gene level: | NG_008916.1:g.31216C>T
|
Pathogenic status of mutation: | Pathogenic
|
Disease: | Long QT Syndrome (LQTS) |
Clinical Resources |
ClinVar ID: | 14420 |
KEGG disease ID: | H00720 |
OMIM ID: | 152427 |
COSMIC: | KCNH2 |
DECIPHER: | KCNH2 |
GeneTests: | KCNH2 |
ASP siRNA details |
Mutant allele (5'->3'): | ACCCUAUUCGGCUGCCUUC
|
ASP-siRNA (As strand 3'->5'): | UGGGAUAAGCCGACGGAAG
|
Percentage efficacy of ASP-siRNA for mutant allele: | 48
|
Wild allele (5'->3'): | ACCCUACUCGGCUGCCUUC
|
ASP-siRNA (As strand 3'->5'): | UGGGAUAAGCCGACGGAAG
|
Percentage efficacy of ASP-siRNA for wild allele: | 10
|
Relative difference: | 38
|
Wild siRNA details |
Wild allele (5'->3'): | ACCCUACUCGGCUGCCUUC
|
Wild siRNA (As strand 3'->5'): | UGGGAUGAGCCGACGGAAG
|
Percentage efficacy of wild siRNA for wild allele: | NA
|
Wild allele (5'->3'): | ACCCUACUCGGCUGCCUUC
|
ASP-siRNA (As strand 3'->5'): | UGGGAUAAGCCGACGGAAG
|
Percentage efficacy of Wild sirna for mutant allele: | NA
|
Relative difference : | NA
|
General information |
Mismatch incorporated in siRNA/Target: | siRNA |
Cell-line used: | cardiomyocytes |
Experimental technique used: | RT-PCR, Flourescence microscopy |
Transfection method: | Lipofectamine 2000 |
siRNA expression method: | Invitrogen |
Post-transfection duration: | 72 hours |
Concentration used: | 20microM |
Reference: | 23470493 |
Delivery method: | Transfection |
'Article title: | Allele-specific RNA interference rescues the long-QT syndrome phenotype in human-induced pluripotency stem cell cardiomyocytes |
'Authors: | Matsa E, Dixon JE, Medway C, Georgiou O, Patel MJ, Morgan K, Kemp PJ, Staniforth A, Mellor I, Denning C |
'Journal Reference: | Eur Heart J. 2014 Apr;35(16):1078-87. doi: 10.1093/eurheartj/eht067. Epub 2013 Mar 6 |
'