Detailed information for COL9A1
Basic information
| Official symbol | CRB1 |
|---|---|
| Official full name | crumbs homolog 1 (Drosophila) |
| Location | 1q31-q32.1 |
| Gene type | protein-coding |
| Synonyms | LCA8|RP12 |
| Quick links | Entrez ID:23418; HGNC:2343; MIM:604210; Ensembl:ENSG00000134376; HPRD:05019; Vega:OTTHUMG00000035663 |
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:0007423 | sensory organ development | 436 | 48 | 5.42 | 8.85 | 3.27e-32 | 3.84e-30 |
| GO:0001654 | eye development | 276 | 39 | 3.43 | 11.36 | 3.01e-30 | 2.94e-28 |
| 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:0046530 | photoreceptor cell differentiation | 41 | 20 | 0.51 | 39.21 | 5.82e-28 | 4.27e-26 |
| GO:0042461 | photoreceptor cell development | 30 | 18 | 0.37 | 48.23 | 1.64e-27 | 1.13e-25 |
| GO:0001754 | eye photoreceptor cell differentiation | 34 | 16 | 0.42 | 37.83 | 3.06e-22 | 1.50e-20 |
| GO:0048592 | eye morphogenesis | 126 | 24 | 1.57 | 15.31 | 5.38e-22 | 2.53e-20 |
| GO:0042462 | eye photoreceptor cell development | 25 | 14 | 0.31 | 45.02 | 5.07e-21 | 2.29e-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:0005509 | calcium ion binding | 668 | 17 | 7.43 | 2.29 | 0.0013 | 0.0157 |
| GO:0042995 | cell projection | 1230 | 67 | 13.42 | 4.99 | 5.15e-30 | 2.02e-28 |
| GO:0005902 | microvillus | 68 | 10 | 0.74 | 13.48 | 3.14e-09 | 3.24e-08 |
| GO:0044459 | plasma membrane part | 1918 | 41 | 20.92 | 1.96 | 1.68e-05 | 9.98e-05 |
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 |
|---|---|---|---|---|---|---|---|
| chr1 | 197236333 | 197448585 | 613835 | Leber congenital amaurosis 8 | 3 | 604210 | 1q31.3 |
| chr1 | 197236333 | 197448585 | 172870 | Pigmented paravenous chorioretinal atrophy | 3 | 604210 | 1q31.3 |
| chr1 | 197236333 | 197448585 | 600105 | "Retinitis pigmentosa-12, autosomal recessive" | 3 | 604210 | 1q31.3 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr1 | 197236333 | 197448585 | 23418 | Crb1 | MGI:2136343 | MP:0001186 | pigmentation phenotype |
| chr1 | 197236333 | 197448585 | 23418 | Crb1 | MGI:2136343 | MP:0003631 | nervous system phenotype |
| chr1 | 197236333 | 197448585 | 23418 | Crb1 | MGI:2136343 | MP:0005376 | homeostasis/metabolism phenotype |
| chr1 | 197236333 | 197448585 | 23418 | Crb1 | MGI:2136343 | MP:0005391 | vision/eye phenotype |
| chr1 | 197236333 | 197448585 | 23418 | Crb1 | MGI:2136343 | MP:0010768 | mortality/aging |
Mutation spectrum
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Gene-disease network
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