Detailed information for RetinalMD_04322
Basic information
| location | chr1:94528146-94528146 (hg19) | |
|---|---|---|
| gene symbol | ABCA4 (Reference) | |
| band | 1p22.1 | |
| reference | A | |
| observed | G | |
| disease | cone and cone-rod dystrophy | |
| PubMed ID | 26103963 | |
| ethnicity | French | |
| description | ABCA4:NM_000350:exon13:c.T1924C:p.F642L (Reference) |
MGI
| MGI ID | 109424 |
|---|---|
| MGI phenotype | vision/eye phenotype |
OMIM
| OMIM ID | 601691 |
|---|---|
| OMIM phenotype | Stargardt disease 1 |
Genome feature annotation
| segmental duplication | conserved TFBS | Encode TFBS | DNase I hypersensitivity sites |
|---|---|---|---|
wgEncodeBroadHmm feature annotation
| Gm12878 | H1hesc | Hepg2 | Hmec | Hsmm | Huvec | K562 | Nhek | Nhlf |
|---|---|---|---|---|---|---|---|---|
| Name=12_Repressed |
ESP and CG annotation
| ESP5400 | ESP5400_aa | ESP5400_ea | ESP6500 | ESP6500_aa | ESP6500_ea | ESP6500si | ESP6500si_aa | ESP6500si_ea | CG46 | CG69 |
|---|---|---|---|---|---|---|---|---|---|---|
| - | - | - | - | - | - |
dbSNP annotation
| snp137 | snp135 | snp132 | snp131 | snp130 | snp129 | snp137_NonFlagged | snp135_NonFlagged | snp132_NonFlagged | snp131_NonFlagged | snp130_NonFlagged |
|---|---|---|---|---|---|---|---|---|---|---|
1000 genomes annotation
| 2012apr | 2012apr_eur | 2012apr_amr | 2012apr_asn | 2012apr_afr | 2012feb | 2011may | 2010nov |
|---|---|---|---|---|---|---|---|
Functional prediction
| SIFT | SIFT predict | PolyPhen2 | PolyPhen2 predict | phyloP | phyloP predict | LRT | LRT predict | MT | MT predict | GERP++ | GERP++ predict | GERP++elem | GERP++gt2 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 0 | D | 0.845 | P | 0.644 | P | 0 | D | 1 | D | - | 3.83 |
Conserved and constrained region annotation
| multiz46way | |
|---|---|
| phastcons46way | |
| phylop46way |
RNA function annotation
| human_predictions_S_C_aug2010 | human_predictions_S_0_aug2010 | human_predictions_0_C_aug2010 | human_predictions_0_0_aug2010 | circRNAs sebastian memczak | conserved functional RNA |
|---|---|---|---|---|---|