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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 CLN3






    Basic information
    Official symbolCLRN1
    Official full nameclarin 1
    Location3q25
    Gene typeprotein-coding
    SynonymsRP61|USH3|USH3A
    Quick linksEntrez ID:7401; HGNC:12605; MIM:606397; Ensembl:ENSG00000163646; HPRD:05905; Vega:OTTHUMG00000140368
    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:0043954cellular component maintenance38220.4746.546.20e-338.09e-31
    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:0030031cell projection assembly204242.549.466.34e-172.33e-15
    GO:0030030cell projection organization9344611.623.962.85e-169.84e-15
    GO:0042995cell projection12306713.424.995.15e-302.02e-28
    GO:0005902microvillus68100.7413.483.14e-093.24e-08
    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
    chr3150643353150691786614180Retinitis pigmentosa 6136063973q25.1
    chr3150643353150691786276902"Usher syndrome, type 3A"36063973q25.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr31506433531506917867401Clrn1MGI:2388124MP:0003012no phenotypic analysis
    chr31506433531506917867401Clrn1MGI:2388124MP:0003631nervous system phenotype
    chr31506433531506917867401Clrn1MGI:2388124MP:0005377hearing/vestibular/ear phenotype
    chr31506433531506917867401Clrn1MGI:2388124MP:0005386behavior/neurological phenotype
    chr31506433531506917867401Clrn1MGI:2388124MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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