Detailed information for RetinalMD_04583
Basic information
| location | chr4:6303573-6303573 (hg19) |
|---|
| gene symbol | WFS1 (Reference) |
|---|
| band | 4p16.1 |
|---|
| reference | C |
|---|
| observed | T |
|---|
| disease | Wolfram syndrome |
|---|
| PubMed ID | 21538838 | |
|---|
| ethnicity | Italian |
|---|
| description | WFS1,NM_006005,exon8,c.2051C>T,p.A684V;WFS1,NM_001145853,exon8,c.2051C>T,p.A684V (Reference) |
|---|
MGI
| MGI ID | 1328355 |
|---|
| MGI phenotype | integument phenotype |
|---|
OMIM
| OMIM ID | 606201 |
|---|
| OMIM phenotype | Diabetes mellitus, noninsulin-dependent, association with |
|---|
Genome feature annotation
| segmental duplication | conserved TFBS | Encode TFBS | DNase I hypersensitivity sites |
|---|
| Score=1.78;Name=V$NF1_Q6 | | |
wgEncodeBroadHmm feature annotation
| Gm12878 | H1hesc | Hepg2 | Hmec | Hsmm | Huvec | K562 | Nhek | Nhlf |
|---|
| 11_Weak_Txn | | | | | | | | |
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 | 0.991 | P | 0.998561 | C | 1 | D | 0.84653 | D | | | 5351.2 | 5.49 |
Conserved and constrained region annotation
| multiz46way | |
|---|
| phastcons46way | Score=1;Name=chr4.1694497 |
|---|
| phylop46way | |
|---|
RNA function annotation