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    Data summary

    • Publications : 992
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4588
    • SNVs : 3415
    • InDels : 1173
    • Last Update : 21/12/2018

    Detailed information for RetinalMD_04577






    Basic information
    locationchr4:6303955-6303955 (hg19)
    gene symbolWFS1 (Reference) 
    band4p16.1
    referenceA
    observedG
    diseaseWolfram syndrome
    PubMed ID20972738
    ethnicityChinese
    descriptionWFS1,NM_006005,exon8,c.2433G>G,p.K811K;WFS1,NM_001145853,exon8,c.2433G>G,p.K811K (Reference) 
    MGI
    MGI ID1328355
    MGI phenotypeintegument phenotype
    OMIM
    OMIM ID606201
    OMIM phenotypeDiabetes mellitus, noninsulin-dependent, association with
    Genome feature annotation
    segmental duplicationconserved TFBSEncode TFBSDNase I hypersensitivity sites
    Score=2.24;Name=V$HMX1_01
    wgEncodeBroadHmm feature annotation
    Gm12878H1hescHepg2HmecHsmmHuvecK562NhekNhlf
    11_Weak_Txn
    ESP and CG annotation
    ESP5400ESP5400_aaESP5400_eaESP6500ESP6500_aaESP6500_eaESP6500siESP6500si_aaESP6500si_eaCG46CG69
    dbSNP annotation
    snp137snp135snp132snp131snp130snp129snp137_NonFlaggedsnp135_NonFlaggedsnp132_NonFlaggedsnp131_NonFlaggedsnp130_NonFlagged
    1000 genomes annotation
    2012apr2012apr_eur2012apr_amr2012apr_asn2012apr_afr2012feb2011may2010nov
    Functional prediction
    SIFTSIFT predictPolyPhen2PolyPhen2 predictphyloPphyloP predictLRTLRT predictMTMT predictGERP++GERP++ predictGERP++elemGERP++gt2
    ----------5351.2-
    Conserved and constrained region annotation
    multiz46way
    phastcons46wayScore=1;Name=chr4.1694497
    phylop46way
    RNA function annotation
    human_predictions_S_C_aug2010human_predictions_S_0_aug2010human_predictions_0_C_aug2010human_predictions_0_0_aug2010circRNAs sebastian memczakconserved functional RNA