Detailed information for COL2A1
Basic information
| Official symbol | CHM |
|---|---|
| Official full name | choroideremia (Rab escort protein 1) |
| Location | Xq21.2 |
| Gene type | protein-coding |
| Synonyms | DXS540|GGTA|HSD-32|REP-1|TCD |
| Quick links | Entrez ID:1121; HGNC:1940; MIM:300390; Ensembl:ENSG00000188419; HPRD:02312; Vega:06563 |
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: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: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 |
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 |
|---|---|---|---|---|---|---|---|
| chrX | 85115184 | 85303566 | 607791 | "Charcot-Marie-Tooth disease, dominant intermediate D" | 3 | 159440 | 1q23.3 |
| chrX | 85115184 | 85303566 | 118200 | "Charcot-Marie-Tooth disease, type 1B" | 3 | 159440 | 1q23.3 |
| chrX | 85115184 | 85303566 | 607677 | "Charcot-Marie-Tooth disease, type 2I" | 3 | 159440 | 1q23.3 |
| chrX | 85115184 | 85303566 | 607736 | "Charcot-Marie-Tooth disease, type 2J" | 3 | 159440 | 1q23.3 |
| chrX | 85115184 | 85303566 | 303100 | Choroideremia | 3 | 300390 | Xq21.2 |
| chrX | 85115184 | 85303566 | 145900 | Dejerine-Sottas disease | 3 | 159440 | 1q23.3 |
| chrX | 85115184 | 85303566 | 605253 | "Neuropathy, congenital hypomyelinating" | 3 | 159440 | 1q23.3 |
| chrX | 85115184 | 85303566 | 180800 | Roussy-Levy syndrome | 3 | 159440 | 1q23.3 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chrX | 85115184 | 85303566 | 1121 | Chm | MGI:892979 | MP:0001186 | pigmentation phenotype |
| chrX | 85115184 | 85303566 | 1121 | Chm | MGI:892979 | MP:0002873 | normal phenotype |
| chrX | 85115184 | 85303566 | 1121 | Chm | MGI:892979 | MP:0003631 | nervous system phenotype |
| chrX | 85115184 | 85303566 | 1121 | Chm | MGI:892979 | MP:0005376 | homeostasis/metabolism phenotype |
| chrX | 85115184 | 85303566 | 1121 | Chm | MGI:892979 | MP:0005378 | growth/size phenotype |
| chrX | 85115184 | 85303566 | 1121 | Chm | MGI:892979 | MP:0005380 | embryogenesis phenotype |
| chrX | 85115184 | 85303566 | 1121 | Chm | MGI:892979 | MP:0005385 | cardiovascular system phenotype |
| chrX | 85115184 | 85303566 | 1121 | Chm | MGI:892979 | MP:0005391 | vision/eye phenotype |
| chrX | 85115184 | 85303566 | 1121 | Chm | MGI:892979 | MP:0010768 | mortality/aging |
Mutation spectrum
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Gene-disease network
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