Detailed information for RB1
Basic information
| Official symbol | RB1 |
|---|---|
| Official full name | retinoblastoma 1 |
| Location | 13q14.2 |
| Gene type | protein-coding |
| Synonyms | OSRC|RB|p105-Rb|pRb|pp110 |
| Quick links | Entrez ID:5925; HGNC:9884; MIM:614041; Ensembl:ENSG00000139687; HPRD:01574; Vega:OTTHUMG00000016900 |
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: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:0005515 | protein binding | 7337 | 102 | 81.61 | 1.25 | 0.0011 | 0.0149 |
| 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: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 |
|---|---|---|---|---|---|---|---|
| DNA Replication | Pathway commons | 261 | 7 | 1.17 | 5.96 | 0.0002 | 0.0015 |
| Cell Cycle, Mitotic | Pathway commons | 318 | 7 | 1.43 | 4.89 | 0.0006 | 0.0041 |
| ID signaling pathway | WIKI | 15 | 2 | 0.07 | 29.64 | 0.0020 | 0.0110 |
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 |
|---|---|---|---|---|---|---|---|
| chr13 | 48876882 | 49057026 | 109800 | "Bladder cancer, somatic" | 3 | 614041 | 13q14.2 |
| chr13 | 48876882 | 49057026 | 259500 | "Osteosarcoma, somatic" | 3 | 614041 | 13q14.2 |
| chr13 | 48876882 | 49057026 | 180200 | Retinoblastoma | 3 | 614041 | 13q14.2 |
| chr13 | 48876882 | 49057026 | 180200 | "Retinoblastoma, trilateral" | 3 | 614041 | 13q14.2 |
| chr13 | 48876882 | 49057026 | 182280 | "Small cell cancer of the lung, somatic" | 3 | 614041 | 13q14.2 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0001186 | pigmentation phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0002006 | tumorigenesis |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0002873 | normal phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0003012 | no phenotypic analysis |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0003631 | nervous system phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005369 | muscle phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005370 | liver/biliary system phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005371 | limbs/digits/tail phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005375 | adipose tissue phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005376 | homeostasis/metabolism phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005377 | hearing/vestibular/ear phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005378 | growth/size phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005379 | endocrine/exocrine gland phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005380 | embryogenesis phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005381 | digestive/alimentary phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005382 | craniofacial phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005384 | cellular phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005385 | cardiovascular system phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005386 | behavior/neurological phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005387 | immune system phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005388 | respiratory system phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005389 | reproductive system phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005390 | skeleton phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005391 | vision/eye phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0005397 | hematopoietic system phenotype |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0010768 | mortality/aging |
| chr13 | 48876882 | 49057026 | 5925 | Rb1 | MGI:97874 | MP:0010771 | integument phenotype |
Mutation spectrum
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Gene-disease network
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