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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 PDE6A






    Basic information
    Official symbolPDE6A
    Official full namephosphodiesterase 6A, cGMP-specific, rod, alpha
    Location5q31.2-q34
    Gene typeprotein-coding
    SynonymsCGPR-A|PDEA|RP43
    Quick linksEntrez ID:5145; HGNC:8785; MIM:180071; Ensembl:ENSG00000132915; HPRD:01570; Vega:OTTHUMG00000130047
    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:0060041retina development in camera-type eye105311.3123.731.13e-341.90e-32
    GO:0007423sensory organ development436485.428.853.27e-323.84e-30
    GO:0001654eye development276393.4311.363.01e-302.94e-28
    GO:0044707single-multicellular organism process561214369.812.059.21e-297.72e-27
    GO:0032501multicellular organismal process564414370.212.041.83e-281.43e-26
    GO:0043010camera-type eye development237332.9511.192.13e-251.25e-23
    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:00475553',5'-cyclic-GMP phosphodiesterase activity1050.1144.953.87e-082.80e-06
    GO:00041143',5'-cyclic-nucleotide phosphodiesterase activity2450.2718.735.75e-060.0002
    GO:0004112cyclic-nucleotide phosphodiesterase activity2550.2817.987.12e-060.0003
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0008081phosphoric diester hydrolase activity9551.064.730.00420.0304
    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
    PhototransductionKEGG29120.1391.992.36e-215.66e-20
    Purine metabolismKEGG16270.739.619.46e-060.0001
    PPI related
    IDNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    Hsapiens_Module_1421230.1224.340.00020.0021
    Hsapiens_Module_26697167.162.240.00220.0114
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr5149236518149325356613810Retinitis pigmentosa 4331800715q32
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr51492365181493253565145Pde6aMGI:97524MP:0003631nervous system phenotype
    chr51492365181493253565145Pde6aMGI:97524MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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