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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 LRAT






    Basic information
    Official symbolLRAT
    Official full namelecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
    Location4q32.1
    Gene typeprotein-coding
    SynonymsLCA14
    Quick linksEntrez ID:9227; HGNC:6685; MIM:604863; Ensembl:ENSG00000121207; HPRD:05332; Vega:OTTHUMG00000161418
    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:0019841retinol binding1230.1322.480.00030.0072
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005501retinoid binding3540.3910.270.00060.0100
    GO:0019840isoprenoid binding3740.419.720.00070.0109
    GO:0019842vitamin binding13771.524.590.00090.0130
    GO:0043168anion binding24024026.721.500.00480.0336
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    Visual signal transduction: RodsPathway commons24170.11157.472.08e-352.14e-33
    Visual signal transduction: ConesPathway commons23150.10144.981.71e-308.81e-29
    Retinol metabolismKEGG6440.2913.890.00020.0010
    Vitamin A and carotenoid metabolismWIKI4960.2227.229.13e-081.00e-06
    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
    chr4155664162155675270613341Leber congenital amaurosis 1436048634q32.1
    chr4155664162155675270613341"Retinal dystrophy, early-onset severe"36048634q32.1
    chr4155664162155675270613341"Retinitis pigmentosa, juvenile"36048634q32.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr41556641621556752709227LratMGI:1891259MP:0003631nervous system phenotype
    chr41556641621556752709227LratMGI:1891259MP:0005376homeostasis/metabolism phenotype
    chr41556641621556752709227LratMGI:1891259MP:0005379endocrine/exocrine gland phenotype
    chr41556641621556752709227LratMGI:1891259MP:0005389reproductive system phenotype
    chr41556641621556752709227LratMGI:1891259MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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