Detailed information for RetinalMD_04576
Basic information
| location | chr4:6303484-6303484 (hg19) |
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| gene symbol | WFS1 (Reference) |
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| band | 4p16.1 |
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| reference | G |
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| observed | A |
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| disease | Wolfram syndrome |
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| PubMed ID | 20972738 | |
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| ethnicity | Chinese |
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| description | WFS1,NM_006005,exon8,c.1962A>A,p.S654S;WFS1,NM_001145853,exon8,c.1962A>A,p.S654S (Reference) |
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MGI
| MGI ID | 1328355 |
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| MGI phenotype | integument phenotype |
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OMIM
| OMIM ID | 606201 |
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| OMIM phenotype | Diabetes mellitus, noninsulin-dependent, association with |
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Genome feature annotation
| segmental duplication | conserved TFBS | Encode TFBS | DNase I hypersensitivity sites |
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| - | 11_Weak_Txn | |
wgEncodeBroadHmm feature annotation
| Gm12878 | H1hesc | Hepg2 | Hmec | Hsmm | Huvec | K562 | Nhek | Nhlf |
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| | | | | | | | |
ESP and CG annotation
| ESP5400 | ESP5400_aa | ESP5400_ea | ESP6500 | ESP6500_aa | ESP6500_ea | ESP6500si | ESP6500si_aa | ESP6500si_ea | CG46 | CG69 |
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| | | | | | | | | | |
dbSNP annotation
| snp137 | snp135 | snp132 | snp131 | snp130 | snp129 | snp137_NonFlagged | snp135_NonFlagged | snp132_NonFlagged | snp131_NonFlagged | snp130_NonFlagged |
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| | | | | | | | | | |
1000 genomes annotation
| 2012apr | 2012apr_eur | 2012apr_amr | 2012apr_asn | 2012apr_afr | 2012feb | 2011may | 2010nov |
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| | | | | | | |
Functional prediction
| SIFT | SIFT predict | PolyPhen2 | PolyPhen2 predict | phyloP | phyloP predict | LRT | LRT predict | MT | MT predict | GERP++ | GERP++ predict | GERP++elem | GERP++gt2 |
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| - | - | - | - | - | - | - | - | - | - | | | 5351.2 | - |
Conserved and constrained region annotation
| multiz46way | |
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| phastcons46way | Score=1;Name=chr4.1694497 |
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| phylop46way | |
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RNA function annotation