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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 OFD1






    Basic information
    Official symbolOFD1
    Official full nameoral-facial-digital syndrome 1
    LocationXp22
    Gene typeprotein-coding
    Synonyms71-7A|CXorf5|JBTS10|RP23|SGBS2
    Quick linksEntrez ID:8481; HGNC:2567; MIM:300170; Ensembl:ENSG00000046651; HPRD:02162; Vega:OTTHUMG00000021159
    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:0060271cilium morphogenesis97251.2120.722.04e-261.26e-24
    GO:0042384cilium assembly75210.9322.513.56e-231.90e-21
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0010927cellular component assembly involved in morphogenesis137221.7012.911.49e-186.03e-17
    GO:0048646anatomical structure formation involved in morphogenesis15946219.833.134.32e-171.64e-15
    GO:0030031cell projection assembly204242.549.466.34e-172.33e-15
    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:0005929cilium239552.6121.102.59e-585.08e-56
    GO:0042995cell projection12306713.424.995.15e-302.02e-28
    GO:0005932microtubule basal body66200.7227.785.27e-241.48e-22
    GO:0044463cell projection part639426.976.032.11e-215.17e-20
    GO:0005815microtubule organizing center486315.305.851.61e-152.87e-14
    GO:0015630microtubule cytoskeleton863379.413.935.76e-138.68e-12
    GO:0005813centrosome376224.105.361.49e-101.83e-09
    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
    Loss of Nlp from mitotic centrosomesPathway commons6160.2721.873.47e-076.56e-06
    Golgi Cisternae Pericentriolar Stack ReorganizationPathway commons6260.2821.513.82e-076.56e-06
    Loss of proteins required for interphase microtubule organizationàfrom the centrosomePathway commons6160.2721.873.47e-076.56e-06
    Mitotic ProphasePathway commons6260.2821.513.82e-076.56e-06
    Centrosome maturationPathway commons7060.3119.057.91e-071.02e-05
    Recruitment of mitotic centrosome proteins and complexesPathway commons7060.3119.057.91e-071.02e-05
    G2/M TransitionPathway commons9660.4313.895.08e-065.23e-05
    Mitotic G2-G2/M phasesPathway commons9960.4513.476.07e-065.68e-05
    M PhasePathway commons15860.718.448.54e-050.0007
    DNA ReplicationPathway commons26171.175.960.00020.0015
    Cell Cycle, MitoticPathway commons31871.434.890.00060.0041
    Mitotic M-M/G1 phasesPathway commons24261.095.510.00080.0052
    PPI related
    IDNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    Hsapiens_Module_2405560.5610.622.05e-050.0004
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chrX1375183113788480300804Joubert syndrome 103300170Xp22.2
    chrX1375183113788480311200Oral-facial-digital syndrome 13300170Xp22.2
    chrX1375183113788480300209"Simpson-Golabi-Behmel syndrome, type 2"3300170Xp22.2
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chrX13751831137884808481Ofd1MGI:1350328MP:0003631nervous system phenotype
    chrX13751831137884808481Ofd1MGI:1350328MP:0005367renal/urinary system phenotype
    chrX13751831137884808481Ofd1MGI:1350328MP:0005371limbs/digits/tail phenotype
    chrX13751831137884808481Ofd1MGI:1350328MP:0005378growth/size phenotype
    chrX13751831137884808481Ofd1MGI:1350328MP:0005380embryogenesis phenotype
    chrX13751831137884808481Ofd1MGI:1350328MP:0005381digestive/alimentary phenotype
    chrX13751831137884808481Ofd1MGI:1350328MP:0005382craniofacial phenotype
    chrX13751831137884808481Ofd1MGI:1350328MP:0005384cellular phenotype
    chrX13751831137884808481Ofd1MGI:1350328MP:0005385cardiovascular system phenotype
    chrX13751831137884808481Ofd1MGI:1350328MP:0005388respiratory system phenotype
    chrX13751831137884808481Ofd1MGI:1350328MP:0005390skeleton phenotype
    chrX13751831137884808481Ofd1MGI:1350328MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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