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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 RP1L1






    Basic information
    Official symbolRP1L1
    Official full nameretinitis pigmentosa 1-like 1
    Location8p23.1
    Gene typeprotein-coding
    SynonymsDCDC4B
    Quick linksEntrez ID:94137; HGNC:15946; MIM:608581; Ensembl:ENSG00000183638; HPRD:10546; Vega:OTTHUMG00000163806
    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:0046530photoreceptor cell differentiation41200.5139.215.82e-284.27e-26
    GO:0042461photoreceptor cell development30180.3748.231.64e-271.13e-25
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0030030cell projection organization9344611.623.962.85e-169.84e-15
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    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:0031513nonmotile primary cilium80320.8736.671.40e-421.37e-40
    GO:0072372primary cilium96331.0531.522.93e-411.91e-39
    GO:0044441cilium part110291.2024.171.90e-329.31e-31
    GO:0042995cell projection12306713.424.995.15e-302.02e-28
    GO:0001750photoreceptor outer segment37190.4047.083.03e-289.90e-27
    GO:0044463cell projection part639426.976.032.11e-215.17e-20
    GO:0032391photoreceptor connecting cilium23120.2547.832.41e-184.72e-17
    GO:0015630microtubule cytoskeleton863379.413.935.76e-138.68e-12
    GO:0044430cytoskeletal part12873914.042.783.99e-093.91e-08
    GO:0005930axoneme70100.7613.104.21e-093.93e-08
    GO:0035085cilium axoneme5290.5715.874.42e-093.94e-08
    GO:0005856cytoskeleton17904719.522.417.23e-096.16e-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
    chr81046285910513617613587Occult macular dystrophy36085818p23.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr8104628591051361794137Rp1l1MGI:2384303MP:0003631nervous system phenotype
    chr8104628591051361794137Rp1l1MGI:2384303MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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