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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4571
    • SNVs : 3402
    • InDels : 1169
    • Last Update : 26/10/2017

    Detailed information for INPP5E






    Basic information
    Official symbolINPP5E
    Official full nameinositol polyphosphate-5-phosphatase, 72 kDa
    Location9q34.3
    Gene typeprotein-coding
    SynonymsCORS1|CPD4|JBTS1|MORMS|PPI5PIV
    Quick linksEntrez ID:56623; HGNC:21474; MIM:613037; Ensembl:ENSG00000148384; HPRD:17151; Vega:OTTHUMG00000020927
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    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:0030030cell projection organization9344611.623.962.85e-169.84e-15
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0005929cilium239552.6121.102.59e-585.08e-56
    GO:0044441cilium part110291.2024.171.90e-329.31e-31
    GO:0042995cell projection12306713.424.995.15e-302.02e-28
    GO:0044463cell projection part639426.976.032.11e-215.17e-20
    GO:0005930axoneme70100.7613.104.21e-093.93e-08
    GO:0035085cilium axoneme5290.5715.874.42e-093.94e-08
    GO:0005856cytoskeleton17904719.522.417.23e-096.16e-08
    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
    Hsapiens_Module_26697167.162.240.00220.0114
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr9139322066139335256213300Joubert syndrome 136130379q34.3
    chr9139322066139335256610156"Mental retardation, truncal obesity, retinal dystrophy, and micropenis"36130379q34.3
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr913932206613933525656623Inpp5eMGI:1927753MP:0003012no phenotypic analysis
    chr913932206613933525656623Inpp5eMGI:1927753MP:0003631nervous system phenotype
    chr913932206613933525656623Inpp5eMGI:1927753MP:0005367renal/urinary system phenotype
    chr913932206613933525656623Inpp5eMGI:1927753MP:0005371limbs/digits/tail phenotype
    chr913932206613933525656623Inpp5eMGI:1927753MP:0005378growth/size phenotype
    chr913932206613933525656623Inpp5eMGI:1927753MP:0005380embryogenesis phenotype
    chr913932206613933525656623Inpp5eMGI:1927753MP:0005381digestive/alimentary phenotype
    chr913932206613933525656623Inpp5eMGI:1927753MP:0005382craniofacial phenotype
    chr913932206613933525656623Inpp5eMGI:1927753MP:0005384cellular phenotype
    chr913932206613933525656623Inpp5eMGI:1927753MP:0005390skeleton phenotype
    chr913932206613933525656623Inpp5eMGI:1927753MP:0005391vision/eye phenotype
    chr913932206613933525656623Inpp5eMGI:1927753MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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