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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 RIMS1






    Basic information
    Official symbolRIMS1
    Official full nameregulating synaptic membrane exocytosis 1
    Location6q12-q13
    Gene typeprotein-coding
    SynonymsCORD7|RAB3IP2|RIM|RIM1
    Quick linksEntrez ID:22999; HGNC:17282; MIM:606629; Ensembl:ENSG00000079841; HPRD:09435; Vega:OTTHUMG00000015009
    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: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:0005515protein binding733710281.611.250.00110.0149
    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
    chr67292151373113845603649Cone-rod dystrophy 736066296q13
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr6729215137311384522999Rims1MGI:2152971MP:0002873normal phenotype
    chr6729215137311384522999Rims1MGI:2152971MP:0003631nervous system phenotype
    chr6729215137311384522999Rims1MGI:2152971MP:0005376homeostasis/metabolism phenotype
    chr6729215137311384522999Rims1MGI:2152971MP:0005386behavior/neurological phenotype
    chr6729215137311384522999Rims1MGI:2152971MP:0005390skeleton phenotype
    chr6729215137311384522999Rims1MGI:2152971MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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