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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 CDHR1






    Basic information
    Official symbolCEP164
    Official full namecentrosomal protein 164kDa
    Location11q23.3
    Gene typeprotein-coding
    SynonymsNPHP15
    Quick linksEntrez ID:22897; HGNC:29182; MIM:614848; Ensembl:ENSG00000110274; HPRD:10854; Vega:OTTHUMG00000167070
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0060271cilium morphogenesis97251.2120.722.04e-261.26e-24
    GO:0042384cilium assembly75210.9322.513.56e-231.90e-21
    GO:0010927cellular component assembly involved in morphogenesis137221.7012.911.49e-186.03e-17
    GO:0048646anatomical structure formation involved in morphogenesis15946219.833.134.32e-171.64e-15
    GO:0030031cell projection assembly204242.549.466.34e-172.33e-15
    GO:0009653anatomical structure morphogenesis20557025.562.741.99e-167.08e-15
    GO:0030030cell projection organization9344611.623.962.85e-169.84e-15
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0000902cell morphogenesis9454211.763.572.49e-137.69e-12
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005515protein binding733710281.611.250.00110.0149
    GO:0005815microtubule organizing center486315.305.851.61e-152.87e-14
    GO:0015630microtubule cytoskeleton863379.413.935.76e-138.68e-12
    GO:0005813centrosome376224.105.361.49e-101.83e-09
    GO:0044430cytoskeletal part12873914.042.783.99e-093.91e-08
    GO:0005856cytoskeleton17904719.522.417.23e-096.16e-08
    GO:0044450microtubule organizing center part9491.038.788.63e-076.51e-06
    GO:0005814centriole5970.6410.883.47e-062.52e-05
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    Loss of Nlp from mitotic centrosomesPathway commons6160.2721.873.47e-076.56e-06
    Golgi Cisternae Pericentriolar Stack ReorganizationPathway commons6260.2821.513.82e-076.56e-06
    Loss of proteins required for interphase microtubule organizationàfrom the centrosomePathway commons6160.2721.873.47e-076.56e-06
    Mitotic ProphasePathway commons6260.2821.513.82e-076.56e-06
    Centrosome maturationPathway commons7060.3119.057.91e-071.02e-05
    Recruitment of mitotic centrosome proteins and complexesPathway commons7060.3119.057.91e-071.02e-05
    G2/M TransitionPathway commons9660.4313.895.08e-065.23e-05
    Mitotic G2-G2/M phasesPathway commons9960.4513.476.07e-065.68e-05
    M PhasePathway commons15860.718.448.54e-050.0007
    DNA ReplicationPathway commons26171.175.960.00020.0015
    Cell Cycle, MitoticPathway commons31871.434.890.00060.0041
    Mitotic M-M/G1 phasesPathway commons24261.095.510.00080.0052
    PPI related
    IDNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    Hsapiens_Module_2405560.5610.622.05e-050.0004
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr11117197570117284982614845Nephronophthisis 15361484811q23.3
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr1111719757011728498222897Cep164MGI:2384878--
    Mutation spectrum

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    Gene-disease network

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