Detailed information for CNNM4
Basic information
| Official symbol | COL11A1 |
|---|---|
| Official full name | collagen, type XI, alpha 1 |
| Location | 1p21 |
| Gene type | protein-coding |
| Synonyms | CO11A1|COLL6|STL2 |
| Quick links | Entrez ID:1301; HGNC:2186; MIM:120280; Ensembl:ENSG00000060718; HPRD:00375; Vega:OTTHUMG00000010872 |
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:0007423 | sensory organ development | 436 | 48 | 5.42 | 8.85 | 3.27e-32 | 3.84e-30 |
| 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: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:0048646 | anatomical structure formation involved in morphogenesis | 1594 | 62 | 19.83 | 3.13 | 4.32e-17 | 1.64e-15 |
| GO:0009653 | anatomical structure morphogenesis | 2055 | 70 | 25.56 | 2.74 | 1.99e-16 | 7.08e-15 |
| GO:0048856 | anatomical structure development | 4030 | 102 | 50.13 | 2.03 | 4.19e-16 | 1.33e-14 |
| 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:0005201 | extracellular matrix structural constituent | 78 | 5 | 0.87 | 5.76 | 0.0018 | 0.0170 |
| GO:0005578 | proteinaceous extracellular matrix | 360 | 14 | 3.93 | 3.57 | 4.22e-05 | 0.0002 |
| GO:0031012 | extracellular matrix | 426 | 15 | 4.65 | 3.23 | 6.94e-05 | 0.0004 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|---|---|---|---|---|---|---|
| Protein digestion and absorption | KEGG | 81 | 3 | 0.36 | 8.23 | 0.0059 | 0.0168 |
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 |
|---|---|---|---|---|---|---|---|
| chr1 | 103341022 | 103575052 | 228520 | Fibrochondrogenesis | 3 | 120280 | 1p21.1 |
| chr1 | 103341022 | 103575052 | 154780 | Marshall syndrome | 3 | 120280 | 1p21.1 |
| chr1 | 103341022 | 103575052 | 604841 | "Stickler syndrome, type II" | 3 | 120280 | 1p21.1 |
| chr1 | 103341022 | 103575052 | 603932 | "{Lumbar disc herniation, susceptibility to}" | 3 | 120280 | 1p21.1 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr1 | 103341022 | 103575052 | 1301 | Col11a1 | MGI:88446 | MP:0003631 | nervous system phenotype |
| chr1 | 103341022 | 103575052 | 1301 | Col11a1 | MGI:88446 | MP:0005371 | limbs/digits/tail phenotype |
| chr1 | 103341022 | 103575052 | 1301 | Col11a1 | MGI:88446 | MP:0005377 | hearing/vestibular/ear phenotype |
| chr1 | 103341022 | 103575052 | 1301 | Col11a1 | MGI:88446 | MP:0005381 | digestive/alimentary phenotype |
| chr1 | 103341022 | 103575052 | 1301 | Col11a1 | MGI:88446 | MP:0005382 | craniofacial phenotype |
| chr1 | 103341022 | 103575052 | 1301 | Col11a1 | MGI:88446 | MP:0005387 | immune system phenotype |
| chr1 | 103341022 | 103575052 | 1301 | Col11a1 | MGI:88446 | MP:0005388 | respiratory system phenotype |
| chr1 | 103341022 | 103575052 | 1301 | Col11a1 | MGI:88446 | MP:0005390 | skeleton phenotype |
| chr1 | 103341022 | 103575052 | 1301 | Col11a1 | MGI:88446 | MP:0010768 | mortality/aging |
Mutation spectrum
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Gene-disease network
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