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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 PCDH15






    Basic information
    Official symbolPCDH15
    Official full nameprotocadherin-related 15
    Location10q21.1
    Gene typeprotein-coding
    SynonymsCDHR15|DFNB23|USH1F
    Quick linksEntrez ID:65217; HGNC:14674; MIM:605514; Ensembl:ENSG00000150275; HPRD:05698; Vega:OTTHUMG00000018259
    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:0045494photoreceptor cell maintenance25220.3170.747.36e-401.44e-37
    GO:0043954cellular component maintenance38220.4746.546.20e-338.09e-31
    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:0005488binding11955150132.971.130.00050.0090
    GO:0005509calcium ion binding668177.432.290.00130.0157
    GO:0005929cilium239552.6121.102.59e-585.08e-56
    GO:0031513nonmotile primary cilium80320.8736.671.40e-421.37e-40
    GO:0072372primary cilium96331.0531.522.93e-411.91e-39
    GO:0042995cell projection12306713.424.995.15e-302.02e-28
    GO:0001750photoreceptor outer segment37190.4047.083.03e-289.90e-27
    GO:0032420stereocilium2380.2531.897.34e-119.59e-10
    GO:0032421stereocilium bundle2780.2927.173.20e-103.48e-09
    GO:0005902microvillus68100.7413.483.14e-093.24e-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
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr105557985956562051609533"Deafness, autosomal recessive 23"360551410q21.1
    chr105557985956562051601067"Usher syndrome, type 1D/F digenic"360551410q21.1
    chr105557985956562051602083"Usher syndrome, type 1F"360551410q21.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr10555798595656205165217Pcdh15MGI:1891428MP:0003631nervous system phenotype
    chr10555798595656205165217Pcdh15MGI:1891428MP:0005377hearing/vestibular/ear phenotype
    chr10555798595656205165217Pcdh15MGI:1891428MP:0005378growth/size phenotype
    chr10555798595656205165217Pcdh15MGI:1891428MP:0005386behavior/neurological phenotype
    chr10555798595656205165217Pcdh15MGI:1891428MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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