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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 RPGR






    Basic information
    Official symbol RPGR
    Official full name retinitis pigmentosa GTPase regulator
    Location Xp21.1
    Gene type protein-coding
    Synonyms COD1|CORDX1|CRD|PCDX|RP15|RP3|XLRP3|orf15
    Quick links Entrez ID:6103; HGNC:10295; MIM:312610; Ensembl:ENSG00000156313; HPRD:02425; Vega:OTTHUMG00000021361
    GO related
    GO term accession GO term name Number of reference genes Number of genes Expected number Ratio of enrichment P-value Adjusted P-Value
    GO:0050953 sensory perception of light stimulus 205 100 2.55 39.21 8.72e-146 1.02e-142
    GO:0007601 visual perception 204 99 2.54 39.01 7.39e-144 4.34e-141
    GO:0007600 sensory perception 495 103 6.16 16.73 4.54e-105 1.78e-102
    GO:0050877 neurological system process 1237 106 15.39 6.89 1.82e-66 5.34e-64
    GO:0003008 system process 1695 108 21.09 5.12 1.12e-54 2.63e-52
    GO:0044707 single-multicellular organism process 5612 143 69.81 2.05 9.21e-29 7.72e-27
    GO:0032501 multicellular organismal process 5644 143 70.21 2.04 1.83e-28 1.43e-26
    GO:0060271 cilium morphogenesis 97 25 1.21 20.72 2.04e-26 1.26e-24
    GO:0042384 cilium assembly 75 21 0.93 22.51 3.56e-23 1.90e-21
    GO:0044699 single-organism process 7682 152 95.57 1.59 9.26e-19 3.88e-17
    GO:0010927 cellular component assembly involved in morphogenesis 137 22 1.70 12.91 1.49e-18 6.03e-17
    GO:0048646 anatomical structure formation involved in morphogenesis 1594 62 19.83 3.13 4.32e-17 1.64e-15
    GO:0030031 cell projection assembly 204 24 2.54 9.46 6.34e-17 2.33e-15
    GO:0009653 anatomical structure morphogenesis 2055 70 25.56 2.74 1.99e-16 7.08e-15
    GO:0030030 cell projection organization 934 46 11.62 3.96 2.85e-16 9.84e-15
    GO:0048856 anatomical structure development 4030 102 50.13 2.03 4.19e-16 1.33e-14
    GO:0000902 cell morphogenesis 945 42 11.76 3.57 2.49e-13 7.69e-12
    GO:0032502 developmental process 4572 104 56.88 1.83 3.53e-13 1.04e-11
    GO:0005488 binding 11955 150 132.97 1.13 0.0005 0.0090
    GO:0005515 protein binding 7337 102 81.61 1.25 0.0011 0.0149
    GO:0005929 cilium 239 55 2.61 21.10 2.59e-58 5.08e-56
    GO:0031513 nonmotile primary cilium 80 32 0.87 36.67 1.40e-42 1.37e-40
    GO:0072372 primary cilium 96 33 1.05 31.52 2.93e-41 1.91e-39
    GO:0042995 cell projection 1230 67 13.42 4.99 5.15e-30 2.02e-28
    GO:0005932 microtubule basal body 66 20 0.72 27.78 5.27e-24 1.48e-22
    GO:0044463 cell projection part 639 42 6.97 6.03 2.11e-21 5.17e-20
    GO:0005815 microtubule organizing center 486 31 5.30 5.85 1.61e-15 2.87e-14
    GO:0015630 microtubule cytoskeleton 863 37 9.41 3.93 5.76e-13 8.68e-12
    GO:0005813 centrosome 376 22 4.10 5.36 1.49e-10 1.83e-09
    GO:0044430 cytoskeletal part 1287 39 14.04 2.78 3.99e-09 3.91e-08
    GO:0005856 cytoskeleton 1790 47 19.52 2.41 7.23e-09 6.16e-08
    Pathway related
    Term Surce Number of reference genes Number of genes Expected number Ratio of enrichment P-value Adjusted P-value
    PPI related
    ID Number of reference genes Number of genes Expected number Ratio of enrichment P-value Adjusted P-value
    Hsapiens_Module_240 55 6 0.56 10.62 2.05e-05 0.0004
    OMIM related
    chromosome begin end disorder MIM number disorder phene mapping key gene/locus MIM number cytogenetic loaction
    chrX 38142701 38187788 304020 Cone-rod dystrophy-1 3 312610 Xp11.4
    chrX 38142701 38187788 300834 "Macular degeneration, X-linked atrophic" 3 312610 Xp11.4
    chrX 38142701 38187788 300029 Retinitis pigmentosa 3 3 312610 Xp11.4
    chrX 38142701 38187788 300455 "Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness" 3 312610 Xp11.4
    MGI related
    chromosome begin end gene ID gene symbol of mouse MGI MP phenotype description
    chrX 38142701 38187788 6103 Rpgr MGI:1344037 MP:0003631 nervous system phenotype
    chrX 38142701 38187788 6103 Rpgr MGI:1344037 MP:0005391 vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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