Detailed information for LCA5
Basic information
| Official symbol | LCA5 |
|---|---|
| Official full name | Leber congenital amaurosis 5 |
| Location | 6q14.1 |
| Gene type | protein-coding |
| Synonyms | C6orf152 |
| Quick links | Entrez ID:167691; HGNC:31923; MIM:611408; Ensembl:ENSG00000135338; HPRD:10791; Vega:OTTHUMG00000015080 |
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: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: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:0044430 | cytoskeletal part | 1287 | 39 | 14.04 | 2.78 | 3.99e-09 | 3.91e-08 |
| GO:0005930 | axoneme | 70 | 10 | 0.76 | 13.10 | 4.21e-09 | 3.93e-08 |
| GO:0035085 | cilium axoneme | 52 | 9 | 0.57 | 15.87 | 4.42e-09 | 3.94e-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 |
|---|---|---|---|---|---|---|---|
| chr6 | 80193707 | 80248147 | 604537 | Leber congenital amaurosis 5 | 3 | 611408 | 6q14.1 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr6 | 80193707 | 80248147 | 167691 | Lca5 | MGI:1923032 | MP:0001186 | pigmentation phenotype |
| chr6 | 80193707 | 80248147 | 167691 | Lca5 | MGI:1923032 | MP:0003631 | nervous system phenotype |
| chr6 | 80193707 | 80248147 | 167691 | Lca5 | MGI:1923032 | MP:0005391 | vision/eye phenotype |
Mutation spectrum
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Gene-disease network
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