Detailed information for DMD
Basic information
| Official symbol | COL9A1 |
|---|---|
| Official full name | collagen, type IX, alpha 1 |
| Location | 6q13 |
| Gene type | protein-coding |
| Synonyms | DJ149L1.1.2|EDM6|MED|STL4 |
| Quick links | Entrez ID:1297; HGNC:2217; MIM:120210; Ensembl:ENSG00000112280; HPRD:00367; Vega:OTTHUMG00000014988 |
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: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: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:0030020 | extracellular matrix structural constituent conferring tensile strength | 6 | 2 | 0.07 | 29.97 | 0.0018 | 0.0170 |
| 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 |
|---|---|---|---|---|---|---|
| Hsapiens_Module_582 | 9 | 2 | 0.09 | 21.64 | 0.0036 | 0.0156 |
| Hsapiens_Module_263 | 18 | 2 | 0.18 | 10.82 | 0.0144 | 0.0440 |
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr6 | 70924742 | 70993911 | 614135 | "Epiphyseal dysplasia, multiple, 6" | 3 | 120210 | 6q13 |
| chr6 | 70924742 | 70993911 | 614134 | "Stickler syndrome, type IV" | 3 | 120210 | 6q13 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr6 | 70924742 | 70993911 | 1297 | Col9a1 | MGI:88465 | MP:0005371 | limbs/digits/tail phenotype |
| chr6 | 70924742 | 70993911 | 1297 | Col9a1 | MGI:88465 | MP:0005376 | homeostasis/metabolism phenotype |
| chr6 | 70924742 | 70993911 | 1297 | Col9a1 | MGI:88465 | MP:0005377 | hearing/vestibular/ear phenotype |
| chr6 | 70924742 | 70993911 | 1297 | Col9a1 | MGI:88465 | MP:0005387 | immune system phenotype |
| chr6 | 70924742 | 70993911 | 1297 | Col9a1 | MGI:88465 | MP:0005390 | skeleton phenotype |
| chr6 | 70924742 | 70993911 | 1297 | Col9a1 | MGI:88465 | MP:0005391 | vision/eye phenotype |
Mutation spectrum
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Gene-disease network
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