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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 RB1






    Basic information
    Official symbolRB1
    Official full nameretinoblastoma 1
    Location13q14.2
    Gene typeprotein-coding
    SynonymsOSRC|RB|p105-Rb|pRb|pp110
    Quick linksEntrez ID:5925; HGNC:9884; MIM:614041; Ensembl:ENSG00000139687; HPRD:01574; Vega:OTTHUMG00000016900
    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: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:0015630microtubule cytoskeleton863379.413.935.76e-138.68e-12
    GO:0044430cytoskeletal part12873914.042.783.99e-093.91e-08
    GO:0005856cytoskeleton17904719.522.417.23e-096.16e-08
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    DNA ReplicationPathway commons26171.175.960.00020.0015
    Cell Cycle, MitoticPathway commons31871.434.890.00060.0041
    ID signaling pathwayWIKI1520.0729.640.00200.0110
    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
    chr134887688249057026109800"Bladder cancer, somatic"361404113q14.2
    chr134887688249057026259500"Osteosarcoma, somatic"361404113q14.2
    chr134887688249057026180200Retinoblastoma361404113q14.2
    chr134887688249057026180200"Retinoblastoma, trilateral"361404113q14.2
    chr134887688249057026182280"Small cell cancer of the lung, somatic"361404113q14.2
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr1348876882490570265925Rb1MGI:97874MP:0001186pigmentation phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0002006tumorigenesis
    chr1348876882490570265925Rb1MGI:97874MP:0002873normal phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0003012no phenotypic analysis
    chr1348876882490570265925Rb1MGI:97874MP:0003631nervous system phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005369muscle phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005370liver/biliary system phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005371limbs/digits/tail phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005375adipose tissue phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005376homeostasis/metabolism phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005377hearing/vestibular/ear phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005378growth/size phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005379endocrine/exocrine gland phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005380embryogenesis phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005381digestive/alimentary phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005382craniofacial phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005384cellular phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005385cardiovascular system phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005386behavior/neurological phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005387immune system phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005388respiratory system phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005389reproductive system phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005390skeleton phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005391vision/eye phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0005397hematopoietic system phenotype
    chr1348876882490570265925Rb1MGI:97874MP:0010768mortality/aging
    chr1348876882490570265925Rb1MGI:97874MP:0010771integument phenotype
    Mutation spectrum

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    Gene-disease network

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