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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4583
    • SNVs : 3411
    • InDels : 1172
    • Last Update : 05/11/2017

    Detailed information for EFEMP1






    Basic information
    Official symbolEFEMP1
    Official full nameEGF containing fibulin-like extracellular matrix protein 1
    Location2p16
    Gene typeprotein-coding
    SynonymsDHRD|DRAD|FBLN3|FBNL|FIBL-3|MLVT|MTLV|S1-5
    Quick linksEntrez ID:2202; HGNC:3218; MIM:601548; Ensembl:ENSG00000115380; HPRD:03331; Vega:OTTHUMG00000129343
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0050953sensory perception of light stimulus2051002.5539.218.72e-1461.02e-142
    GO:0007601visual perception204992.5439.017.39e-1444.34e-141
    GO:0007600sensory perception4951036.1616.734.54e-1051.78e-102
    GO:0050877neurological system process123710615.396.891.82e-665.34e-64
    GO:0003008system process169510821.095.121.12e-542.63e-52
    GO:0044707single-multicellular organism process561214369.812.059.21e-297.72e-27
    GO:0032501multicellular organismal process564414370.212.041.83e-281.43e-26
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005515protein binding733710281.611.250.00110.0149
    GO:0005509calcium ion binding668177.432.290.00130.0157
    GO:0005578proteinaceous extracellular matrix360143.933.574.22e-050.0002
    GO:0031012extracellular matrix426154.653.236.94e-050.0004
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    PPI related
    IDNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr25609209656152298126600Doyne honeycomb degeneration of retina36015482p16.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr256092096561522982202Efemp1MGI:1339998MP:0001186pigmentation phenotype
    chr256092096561522982202Efemp1MGI:1339998MP:0002873normal phenotype
    chr256092096561522982202Efemp1MGI:1339998MP:0005367renal/urinary system phenotype
    chr256092096561522982202Efemp1MGI:1339998MP:0005369muscle phenotype
    chr256092096561522982202Efemp1MGI:1339998MP:0005370liver/biliary system phenotype
    chr256092096561522982202Efemp1MGI:1339998MP:0005375adipose tissue phenotype
    chr256092096561522982202Efemp1MGI:1339998MP:0005376homeostasis/metabolism phenotype
    chr256092096561522982202Efemp1MGI:1339998MP:0005378growth/size phenotype
    chr256092096561522982202Efemp1MGI:1339998MP:0005379endocrine/exocrine gland phenotype
    chr256092096561522982202Efemp1MGI:1339998MP:0005381digestive/alimentary phenotype
    chr256092096561522982202Efemp1MGI:1339998MP:0005385cardiovascular system phenotype
    chr256092096561522982202Efemp1MGI:1339998MP:0005387immune system phenotype
    chr256092096561522982202Efemp1MGI:1339998MP:0005389reproductive system phenotype
    chr256092096561522982202Efemp1MGI:1339998MP:0005390skeleton phenotype
    chr256092096561522982202Efemp1MGI:1339998MP:0005391vision/eye phenotype
    chr256092096561522982202Efemp1MGI:1339998MP:0005395other phenotype
    chr256092096561522982202Efemp1MGI:1339998MP:0005397hematopoietic system phenotype
    chr256092096561522982202Efemp1MGI:1339998MP:0010768mortality/aging
    chr256092096561522982202Efemp1MGI:1339998MP:0010771integument phenotype
    Mutation spectrum

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    Gene-disease network

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