Detailed information for MKS1
Basic information
| Official symbol | MKS1 |
|---|---|
| Official full name | Meckel syndrome, type 1 |
| Location | 17q22 |
| Gene type | protein-coding |
| Synonyms | BBS13|MES|MKS|POC12 |
| Quick links | Entrez ID:54903; HGNC:7121; MIM:609883; Ensembl:ENSG00000011143; HPRD:07900; Vega:OTTHUMG00000133714 |
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: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: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: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 |
|---|
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr17 | 56281796 | 56297666 | 209900 | Bardet-Biedl syndrome 13 | 3 | 609883 | 17q22 |
| chr17 | 56281796 | 56297666 | 249000 | Meckel syndrome 1 | 3 | 609883 | 17q22 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0003631 | nervous system phenotype |
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0005367 | renal/urinary system phenotype |
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0005370 | liver/biliary system phenotype |
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0005371 | limbs/digits/tail phenotype |
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0005376 | homeostasis/metabolism phenotype |
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0005377 | hearing/vestibular/ear phenotype |
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0005378 | growth/size phenotype |
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0005379 | endocrine/exocrine gland phenotype |
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0005380 | embryogenesis phenotype |
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0005381 | digestive/alimentary phenotype |
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0005382 | craniofacial phenotype |
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0005384 | cellular phenotype |
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0005385 | cardiovascular system phenotype |
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0005387 | immune system phenotype |
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0005388 | respiratory system phenotype |
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0005389 | reproductive system phenotype |
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0005390 | skeleton phenotype |
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0005391 | vision/eye phenotype |
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0005397 | hematopoietic system phenotype |
| chr17 | 56281796 | 56297666 | 54903 | Mks1 | MGI:3584243 | MP:0010768 | mortality/aging |
Mutation spectrum
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Gene-disease network
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