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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 OPA1






    Basic information
    Official symbolOPA1
    Official full nameoptic atrophy 1 (autosomal dominant)
    Location3q28-q29
    Gene typeprotein-coding
    SynonymsMGM1|NPG|NTG|largeG
    Quick linksEntrez ID:4976; HGNC:8140; MIM:605290; Ensembl:ENSG00000198836; HPRD:05596; Vega:OTTHUMG00000149897
    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:0048646anatomical structure formation involved in morphogenesis15946219.833.134.32e-171.64e-15
    GO:0009653anatomical structure morphogenesis20557025.562.741.99e-167.08e-15
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0032561guanyl ribonucleotide binding392134.362.980.00040.0079
    GO:0019001guanyl nucleotide binding392134.362.980.00040.0079
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005515protein binding733710281.611.250.00110.0149
    GO:0043168anion binding24024026.721.500.00480.0336
    GO:0042995cell projection12306713.424.995.15e-302.02e-28
    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
    chr3193309932193416600165500Optic atrophy 136052903q29
    chr3193309932193416600125250"Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy"36052903q29
    chr3193309932193416600606657"{Glaucoma, normal tension, susceptibility to}"36052903q29
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr31933099321934166004976Opa1MGI:1921393MP:0003631nervous system phenotype
    chr31933099321934166004976Opa1MGI:1921393MP:0005369muscle phenotype
    chr31933099321934166004976Opa1MGI:1921393MP:0005375adipose tissue phenotype
    chr31933099321934166004976Opa1MGI:1921393MP:0005376homeostasis/metabolism phenotype
    chr31933099321934166004976Opa1MGI:1921393MP:0005377hearing/vestibular/ear phenotype
    chr31933099321934166004976Opa1MGI:1921393MP:0005378growth/size phenotype
    chr31933099321934166004976Opa1MGI:1921393MP:0005379endocrine/exocrine gland phenotype
    chr31933099321934166004976Opa1MGI:1921393MP:0005380embryogenesis phenotype
    chr31933099321934166004976Opa1MGI:1921393MP:0005382craniofacial phenotype
    chr31933099321934166004976Opa1MGI:1921393MP:0005384cellular phenotype
    chr31933099321934166004976Opa1MGI:1921393MP:0005385cardiovascular system phenotype
    chr31933099321934166004976Opa1MGI:1921393MP:0005386behavior/neurological phenotype
    chr31933099321934166004976Opa1MGI:1921393MP:0005389reproductive system phenotype
    chr31933099321934166004976Opa1MGI:1921393MP:0005391vision/eye phenotype
    chr31933099321934166004976Opa1MGI:1921393MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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