Detailed information for RetinalMD_04278
Basic information
| location | chr12:48369769-48369769 (hg19) | |
|---|---|---|
| gene symbol | COL2A1 (Reference) | |
| band | 12q13.11 | |
| reference | G | |
| observed | A | |
| disease | Stickler syndrome | |
| PubMed ID | 25240749 | |
| ethnicity | Brazilian | |
| description | COL2A1:NM_033150:exon49:c.C3367T:p.R1123X,COL2A1:NM_001844:exon50:c.C3574T:p.R1192X (Reference) |
MGI
OMIM
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=13_Heterochrom/lo |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 0.49 | T | . | . | . | . | 0 | D | 1 | A | - | 4.21 |
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 |
|---|---|---|---|---|---|