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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 PROM1






    Basic information
    Official symbolPROM1
    Official full nameprominin 1
    Location4p15.32
    Gene typeprotein-coding
    SynonymsAC133|CD133|CORD12|MCDR2|PROML1|RP41|STGD4
    Quick linksEntrez ID:8842; HGNC:9454; MIM:604365; Ensembl:ENSG00000007062; HPRD:05079; Vega:OTTHUMG00000160180
    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:0060041retina development in camera-type eye105311.3123.731.13e-341.90e-32
    GO:0043954cellular component maintenance38220.4746.546.20e-338.09e-31
    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:0046530photoreceptor cell differentiation41200.5139.215.82e-284.27e-26
    GO:0043010camera-type eye development237332.9511.192.13e-251.25e-23
    GO:0001754eye photoreceptor cell differentiation34160.4237.833.06e-221.50e-20
    GO:0048592eye morphogenesis126241.5715.315.38e-222.53e-20
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0048646anatomical structure formation involved in morphogenesis15946219.833.134.32e-171.64e-15
    GO:0009653anatomical structure morphogenesis20557025.562.741.99e-167.08e-15
    GO:0060042retina morphogenesis in camera-type eye37130.4628.243.05e-161.02e-14
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0048593camera-type eye morphogenesis90151.1213.403.00e-139.03e-12
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005515protein binding733710281.611.250.00110.0149
    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:0044441cilium part110291.2024.171.90e-329.31e-31
    GO:0042995cell projection12306713.424.995.15e-302.02e-28
    GO:0001750photoreceptor outer segment37190.4047.083.03e-289.90e-27
    GO:0044463cell projection part639426.976.032.11e-215.17e-20
    GO:0042622photoreceptor outer segment membrane860.0968.764.27e-115.98e-10
    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
    GO:0031253cell projection membrane187112.045.396.65e-064.07e-05
    GO:0044459plasma membrane part19184120.921.961.68e-059.98e-05
    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_2131730.1717.180.00070.0046
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr41596884816078741612657Cone-rod dystrophy 1236043654p15.32
    chr41596884816078741608051"Macular dystrophy, retinal, 2"36043654p15.32
    chr41596884816078741612095Retinitis pigmentosa 4136043654p15.32
    chr41596884816078741603786Stargardt disease 436043654p15.32
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr415968848160787418842Prom1MGI:1100886MP:0001186pigmentation phenotype
    chr415968848160787418842Prom1MGI:1100886MP:0002006tumorigenesis
    chr415968848160787418842Prom1MGI:1100886MP:0002873normal phenotype
    chr415968848160787418842Prom1MGI:1100886MP:0003012no phenotypic analysis
    chr415968848160787418842Prom1MGI:1100886MP:0003631nervous system phenotype
    chr415968848160787418842Prom1MGI:1100886MP:0005378growth/size phenotype
    chr415968848160787418842Prom1MGI:1100886MP:0005384cellular phenotype
    chr415968848160787418842Prom1MGI:1100886MP:0005385cardiovascular system phenotype
    chr415968848160787418842Prom1MGI:1100886MP:0005386behavior/neurological phenotype
    chr415968848160787418842Prom1MGI:1100886MP:0005391vision/eye phenotype
    chr415968848160787418842Prom1MGI:1100886MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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