Detailed information for MKKS
Basic information
| Official symbol | MKKS |
|---|---|
| Official full name | McKusick-Kaufman syndrome |
| Location | 20p12 |
| Gene type | protein-coding |
| Synonyms | BBS6|HMCS|KMS|MKS |
| Quick links | Entrez ID:8195; HGNC:7108; MIM:604896; Ensembl:ENSG00000125863; HPRD:05356; Vega:OTTHUMG00000031868 |
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:0045494 | photoreceptor cell maintenance | 25 | 22 | 0.31 | 70.74 | 7.36e-40 | 1.44e-37 |
| GO:0043954 | cellular component maintenance | 38 | 22 | 0.47 | 46.54 | 6.20e-33 | 8.09e-31 |
| GO:0009582 | detection of abiotic stimulus | 83 | 27 | 1.03 | 26.15 | 1.40e-31 | 1.49e-29 |
| GO:0009581 | detection of external stimulus | 100 | 27 | 1.24 | 21.70 | 4.42e-29 | 3.99e-27 |
| 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:0051606 | detection of stimulus | 202 | 27 | 2.51 | 10.74 | 2.10e-20 | 9.13e-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:0043168 | anion binding | 2402 | 40 | 26.72 | 1.50 | 0.0048 | 0.0336 |
| GO:0005929 | cilium | 239 | 55 | 2.61 | 21.10 | 2.59e-58 | 5.08e-56 |
| GO:0042995 | cell projection | 1230 | 67 | 13.42 | 4.99 | 5.15e-30 | 2.02e-28 |
| 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:0031514 | motile cilium | 12 | 5 | 0.13 | 38.20 | 1.09e-07 | 8.90e-07 |
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 |
|---|---|---|---|---|---|---|---|
| chr20 | 10384427 | 10415887 | 209900 | Bardet-Biedl syndrome 6 | 3 | 604896 | 20p12.2 |
| chr20 | 10384427 | 10415887 | 236700 | McKusick-Kaufman syndrome | 3 | 604896 | 20p12.2 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr20 | 10384427 | 10415887 | 8195 | Mkks | MGI:1891836 | MP:0003631 | nervous system phenotype |
| chr20 | 10384427 | 10415887 | 8195 | Mkks | MGI:1891836 | MP:0005371 | limbs/digits/tail phenotype |
| chr20 | 10384427 | 10415887 | 8195 | Mkks | MGI:1891836 | MP:0005376 | homeostasis/metabolism phenotype |
| chr20 | 10384427 | 10415887 | 8195 | Mkks | MGI:1891836 | MP:0005377 | hearing/vestibular/ear phenotype |
| chr20 | 10384427 | 10415887 | 8195 | Mkks | MGI:1891836 | MP:0005378 | growth/size phenotype |
| chr20 | 10384427 | 10415887 | 8195 | Mkks | MGI:1891836 | MP:0005382 | craniofacial phenotype |
| chr20 | 10384427 | 10415887 | 8195 | Mkks | MGI:1891836 | MP:0005385 | cardiovascular system phenotype |
| chr20 | 10384427 | 10415887 | 8195 | Mkks | MGI:1891836 | MP:0005386 | behavior/neurological phenotype |
| chr20 | 10384427 | 10415887 | 8195 | Mkks | MGI:1891836 | MP:0005388 | respiratory system phenotype |
| chr20 | 10384427 | 10415887 | 8195 | Mkks | MGI:1891836 | MP:0005389 | reproductive system phenotype |
| chr20 | 10384427 | 10415887 | 8195 | Mkks | MGI:1891836 | MP:0005391 | vision/eye phenotype |
| chr20 | 10384427 | 10415887 | 8195 | Mkks | MGI:1891836 | MP:0005394 | taste/olfaction phenotype |
| chr20 | 10384427 | 10415887 | 8195 | Mkks | MGI:1891836 | MP:0010768 | mortality/aging |
Mutation spectrum
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Gene-disease network
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