| Name | retinoblastoma 1 (including osteosarcoma) |
| Symbol | RB1 |
| Aliases | Retinoblastoma-1 |
| Gene Product | - retinoblastoma 1 (including osteosarcoma)
|
| Category | - Gross deletion in Prostate cancer
- Methylation in Prostate cancer
- Mutation in Prostate cancer
|
| UniGene | Hs.75770 |
| OMIM | 180200 |
| Locus | 5925 |
| Summary | Retinoblastoma protein 1, a nuclear phosphoprotein with DNA binding activity; interacts with histone deacetylase to repress transcription |
| Gene Ontology | |
| Expression | | EST (175 ESTs, 97 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| adrenal gland (2/15) |  | 2/17521 |
| blood (3/27) | | 3/40686 |
| bone marrow (1/263) | | 1/38555 |
| brain (7/204) | | 13/362011 |
| cartilage (1/5) | | 1/11018 |
| cervix (1/7) | | 1/28115 |
| colon (5/853) | | 6/165626 |
| embryo (2/19) | | 2/37976 |
| eye (2/33) | | 3/93836 |
| foreskin (1/4) | | 3/20040 |
| head and neck (7/990) | | 11/79796 |
| heart (1/22) | | 1/55494 |
| kidney (2/86) | | 6/132968 |
| liver (3/38) | | 4/46472 |
| lung (5/312) | | 6/245386 |
| muscle (2/21) | | 2/71297 |
| oral cavity (1/18) | | 12/44567 |
| ovary (2/144) | | 3/81880 |
| pancreas (3/33) | | 6/117255 |
| placenta (5/342) | | 9/157762 |
| prostate (1/291) |  | 3/109871 |
| skin (2/31) | | 4/100815 |
| stomach (1/312) | | 1/129930 |
| testis (5/171) | | 14/117531 |
| thyroid (1/24) | | 1/6853 |
| uncharacterized tissue (25/1773) | | 48/713325 |
| uterus (6/212) | | 9/155110 |
|
| SAGE (5641126 tags, 106 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| blood (1/1) | | 2/48523 |
| brain (15/19) | | 37/1343278 |
| cerebellum (1/1) | | 1/51280 |
| colon (2/8) | | 2/119353 |
| eye (4/6) | | 19/374664 |
| foreskin (1/2) | | 1/9497 |
| heart (1/1) | | 3/84357 |
| kidney (2/2) | | 4/73935 |
| lung (1/1) | | 9/178286 |
| mammary gland (13/19) | | 35/1008202 |
| muscle (2/2) | | 4/161581 |
| ovary (6/10) | | 16/294572 |
| pancreas (2/8) | | 3/73712 |
| prostate (10/13) | | 17/630349 |
| skin (1/7) | | 1/10080 |
| uncharacterized tissue (13/22) | | 41/1045285 |
| vascular (2/3) | | 2/134172 |
|
|
| SNP | rs547747 (T/C:locus-region); rs2097211 (A/G:locus-region); rs415160 (C/T:locus-region); rs2252544 (C/T:locus-region); rs1049721 (T/G:locus-region); rs1060585 (T/A:locus-region); rs425834 (G/A:locus-region); rs1951775 (G/T:locus-region); rs1183422 (T/C:locus-region); rs2245534 (C/G:locus-region); rs2000992 (A/G:locus-region); rs174854 (G/A:locus-region); rs1894255 (A/G:locus-region); rs427686 (C/T:locus-region); rs171988 (G/A:locus-region); rs449151 (G/C:locus-region); rs1185788 (T/A:locus-region); rs1184335 (G/A:locus-region); rs449268 (G/C:locus-region); rs411661 (A/T:locus-region); rs471911 (G/C:locus-region); rs428431 (C/T:locus-region); rs2407087 (A/T:locus-region); rs428498 (G/A:locus-region); rs1181843 (G/A:locus-region); rs434458 (T/A:locus-region); rs1981434 (C/T:locus-region); rs398158 (C/A:locus-region); rs1467869 (A/C:locus-region); rs1964182 (A/G:locus-region); rs3020646 (C/T:locus-region); rs403390 (G/C:locus-region); rs520342 (T/C:locus-region); rs411862 (T/C:locus-region); rs443211 (A/G:locus-region); rs2804082 (T/A:locus-region); rs3085647 (-/CC:locus-region); rs877664 (C/T:locus-region); rs2156904 (T/C:locus-region); rs367438 (C/T:locus-region); rs2233571 (T/C:locus-region); rs2227311 (T/C:locus-region); rs416156 (T/C:locus-region); rs2984827 (G/A:locus-region); rs2006125 (C/T:locus-region); rs399413 (G/A:locus-region); rs198559 (A/G:locus-region); rs185586 (G/T:locus-region); rs2854342 (A/G:locus-region); rs406098 (T/C:locus-region); rs390078 (G/C:locus-region); rs3092860 (A/G:locus-region); rs2515668 (G/C:locus-region); rs1573601 (A/C:locus-region); rs2897585 (C/T:locus-region); |
| Evidence | Gross deletion in Prostate cancer
Methylation in Prostate cancer
Mutation in Prostate cancer
|
