Detailed information for CEP164
Basic information
| Official symbol | CEP290 |
|---|---|
| Official full name | centrosomal protein 290kDa |
| Location | 12q21.32 |
| Gene type | protein-coding |
| Synonyms | 3H11Ag|BBS14|CT87|JBTS5|LCA10|MKS4|NPHP6|POC3|SLSN6|rd16 |
| Quick links | Entrez ID:80184; HGNC:29021; MIM:610142; Ensembl:ENSG00000198707; HPRD:08585; Vega:10856 |
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:0060041 | retina development in camera-type eye | 105 | 31 | 1.31 | 23.73 | 1.13e-34 | 1.90e-32 |
| GO:0007423 | sensory organ development | 436 | 48 | 5.42 | 8.85 | 3.27e-32 | 3.84e-30 |
| GO:0001654 | eye development | 276 | 39 | 3.43 | 11.36 | 3.01e-30 | 2.94e-28 |
| 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:0046530 | photoreceptor cell differentiation | 41 | 20 | 0.51 | 39.21 | 5.82e-28 | 4.27e-26 |
| GO:0042461 | photoreceptor cell development | 30 | 18 | 0.37 | 48.23 | 1.64e-27 | 1.13e-25 |
| GO:0060271 | cilium morphogenesis | 97 | 25 | 1.21 | 20.72 | 2.04e-26 | 1.26e-24 |
| GO:0043010 | camera-type eye development | 237 | 33 | 2.95 | 11.19 | 2.13e-25 | 1.25e-23 |
| GO:0042384 | cilium assembly | 75 | 21 | 0.93 | 22.51 | 3.56e-23 | 1.90e-21 |
| GO:0001754 | eye photoreceptor cell differentiation | 34 | 16 | 0.42 | 37.83 | 3.06e-22 | 1.50e-20 |
| GO:0048592 | eye morphogenesis | 126 | 24 | 1.57 | 15.31 | 5.38e-22 | 2.53e-20 |
| GO:0042462 | eye photoreceptor cell development | 25 | 14 | 0.31 | 45.02 | 5.07e-21 | 2.29e-19 |
| 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:0044441 | cilium part | 110 | 29 | 1.20 | 24.17 | 1.90e-32 | 9.31e-31 |
| 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:0032391 | photoreceptor connecting cilium | 23 | 12 | 0.25 | 47.83 | 2.41e-18 | 4.72e-17 |
| 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 |
| GO:0035869 | ciliary transition zone | 16 | 5 | 0.17 | 28.65 | 5.80e-07 | 4.55e-06 |
| GO:0044450 | microtubule organizing center part | 94 | 9 | 1.03 | 8.78 | 8.63e-07 | 6.51e-06 |
| GO:0036038 | TCTN-B9D complex | 12 | 4 | 0.13 | 30.56 | 6.33e-06 | 4.00e-05 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|---|---|---|---|---|---|---|
| Loss of Nlp from mitotic centrosomes | Pathway commons | 61 | 6 | 0.27 | 21.87 | 3.47e-07 | 6.56e-06 |
| Golgi Cisternae Pericentriolar Stack Reorganization | Pathway commons | 62 | 6 | 0.28 | 21.51 | 3.82e-07 | 6.56e-06 |
| Loss of proteins required for interphase microtubule organizationà from the centrosome | Pathway commons | 61 | 6 | 0.27 | 21.87 | 3.47e-07 | 6.56e-06 |
| Mitotic Prophase | Pathway commons | 62 | 6 | 0.28 | 21.51 | 3.82e-07 | 6.56e-06 |
| Centrosome maturation | Pathway commons | 70 | 6 | 0.31 | 19.05 | 7.91e-07 | 1.02e-05 |
| Recruitment of mitotic centrosome proteins and complexes | Pathway commons | 70 | 6 | 0.31 | 19.05 | 7.91e-07 | 1.02e-05 |
| G2/M Transition | Pathway commons | 96 | 6 | 0.43 | 13.89 | 5.08e-06 | 5.23e-05 |
| Mitotic G2-G2/M phases | Pathway commons | 99 | 6 | 0.45 | 13.47 | 6.07e-06 | 5.68e-05 |
| M Phase | Pathway commons | 158 | 6 | 0.71 | 8.44 | 8.54e-05 | 0.0007 |
| DNA Replication | Pathway commons | 261 | 7 | 1.17 | 5.96 | 0.0002 | 0.0015 |
| Cell Cycle, Mitotic | Pathway commons | 318 | 7 | 1.43 | 4.89 | 0.0006 | 0.0041 |
| Mitotic M-M/G1 phases | Pathway commons | 242 | 6 | 1.09 | 5.51 | 0.0008 | 0.0052 |
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 |
|---|---|---|---|---|---|---|---|
| chr12 | 88441789 | 88536993 | 209900 | Bardet-Biedl syndrome 14 | 3 | 610142 | 12q21.32 |
| chr12 | 88441789 | 88536993 | 610188 | Joubert syndrome 5 | 3 | 610142 | 12q21.32 |
| chr12 | 88441789 | 88536993 | 611755 | Leber congenital amaurosis 10 | 3 | 610142 | 12q21.32 |
| chr12 | 88441789 | 88536993 | 611134 | Meckel syndrome 4 | 3 | 610142 | 12q21.32 |
| chr12 | 88441789 | 88536993 | 610189 | Senior-Loken syndrome 6 | 3 | 610142 | 12q21.32 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr12 | 88441789 | 88536993 | 80184 | Cep290 | MGI:2384917 | MP:0001186 | pigmentation phenotype |
| chr12 | 88441789 | 88536993 | 80184 | Cep290 | MGI:2384917 | MP:0003631 | nervous system phenotype |
| chr12 | 88441789 | 88536993 | 80184 | Cep290 | MGI:2384917 | MP:0005367 | renal/urinary system phenotype |
| chr12 | 88441789 | 88536993 | 80184 | Cep290 | MGI:2384917 | MP:0005378 | growth/size phenotype |
| chr12 | 88441789 | 88536993 | 80184 | Cep290 | MGI:2384917 | MP:0005382 | craniofacial phenotype |
| chr12 | 88441789 | 88536993 | 80184 | Cep290 | MGI:2384917 | MP:0005385 | cardiovascular system phenotype |
| chr12 | 88441789 | 88536993 | 80184 | Cep290 | MGI:2384917 | MP:0005387 | immune system phenotype |
| chr12 | 88441789 | 88536993 | 80184 | Cep290 | MGI:2384917 | MP:0005389 | reproductive system phenotype |
| chr12 | 88441789 | 88536993 | 80184 | Cep290 | MGI:2384917 | MP:0005390 | skeleton phenotype |
| chr12 | 88441789 | 88536993 | 80184 | Cep290 | MGI:2384917 | MP:0005391 | vision/eye phenotype |
| chr12 | 88441789 | 88536993 | 80184 | Cep290 | MGI:2384917 | MP:0005397 | hematopoietic system phenotype |
Mutation spectrum
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Gene-disease network
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