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| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 5925 |
Name | RB1 |
Synonymous | OSRC|RB|p105-Rb|pRb|pp110;retinoblastoma 1;RB1;retinoblastoma 1 |
Definition | retinoblastoma suspectibility protein|retinoblastoma-associated protein |
Position | 13q14.2 |
Gene Type | protein-coding |
Gene Mutation: | Substitution Insertion & Deletion Other Mutation |
Substitution | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Substitution - coding silent; c.366A>G; 13:47814838-47814838 |
ovary | carcinoma |
Substitution - coding silent; c.2517C>T; 13:47945524-47945524 |
central_nervous_system; brain | anaplastic; astrocytoma_Grade_III; glioma |
Substitution - coding silent; c.42C>T; 13:47776091-47776091 |
eye; retina | retinoblastoma |
Substitution - coding silent; c.1770T>C; 13:47925204-47925204 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Indel | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Deletion - Frameshift; c.1980_1983delCCGG; 13:47931844-47931847 |
lung | small_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.1216_1237del22; 13:47849055-47849076 |
eye; retina | retinoblastoma |
Deletion - Frameshift; c.2520delG; 13:47945527-47945527 |
eye; retina | retinoblastoma |
Deletion - Frameshift; c.116delC; 13:47776163-47776163 |
lung | small_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.610delG; 13:47832156-47832156 |
lung | non_small_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.346_349delACTT; 13:47814817-47814820 |
central_nervous_system; brain | glioma |
Deletion - Frameshift; c.1980_1983delCCGG; 13:47931844-47931847 |
lung | small_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.2346delA; 13:47937362-47937362 |
lung | small_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.2051delT; 13:47931915-47931915 |
lung | small_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.1452_1453delGT; 13:47852332-47852333 |
lung | small_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.1939_1940delCT; 13:47928465-47928466 |
eye; retina | retinoblastoma |
Deletion - In frame; c.2107_2211del105; 13:47935868-47935972 |
prostate | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.2244delG; 13:47937167-47937167 |
eye; retina | retinoblastoma |
Deletion - Frameshift; c.227delT; 13:47779506-47779506 |
eye; retina | retinoblastoma |
Deletion - Frameshift; c.2028_2040del13; 13:47931892-47931904 |
lung | small_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.773delA; 13:47835006-47835006 |
prostate | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1959delA; 13:47928480-47928480 |
soft_tissue; smooth_muscle; uterus | leiomyosarcoma |
Deletion - Frameshift; c.2028_2040del13; 13:47931892-47931904 |
lung | small_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.2390_2406del17; 13:47937406-47937422 |
y; ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.1031_1043delAGACTGATTCTAT; |
y | NS |
Deletion - Frameshift; c.1236delA; 13:47849075-47849075 |
eye; retina | retinoblastoma |
Deletion - Frameshift; c.229delA; 13:47779508-47779508 |
liver | hepatocellular_carcinoma; carcinoma |
Deletion - Frameshift; c.2077delG; 13:47931941-47931941 |
urinary_tract; bladder | transitional_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.2077delG; 13:47931941-47931941 |
urinary_tract; bladder | transitional_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.1325delG; 13:47849164-47849164 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Deletion - Frameshift; c.2491delA; 13:47945496-47945497 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Deletion - In frame; c.2133_2180del48; 13:47935894-47935941 |
lung | small_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.2330delC; 13:47937346-47937346 |
lung | small_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.2084delT; 13:47931948-47931948 |
eye; retina | retinoblastoma |
Deletion - Frameshift; c.1723_1726delCAAT; 13:47925157-47925160 |
eye; retina | retinoblastoma |
Deletion - Frameshift; c.1252delA; 13:47849091-47849091 |
lung | small_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.2465delC; 13:47937481-47937481 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Deletion - Frameshift; c.515_516delTA; 13:47819976-47819977 |
eye | retinoblastoma |
Deletion - Frameshift; c.1076_1080delAAAGT; |
y; breast | carcinoma |
Deletion - Frameshift; c.769_773delCAGAA; 13:47835002-47835006 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Deletion - Frameshift; c.1939_1940delCT; 13:47928465-47928466 |
eye; retina | retinoblastoma |
Deletion - Frameshift; c.2031delA; 13:47931895-47931895 |
urinary_tract; bladder | transitional_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.2422_2440del19; 13:47937438-47937456 |
bone | osteoblastic; osteosarcoma |
Deletion - Frameshift; c.219_220delAG; 13:47779498-47779499 |
endometrium | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1981_1984delCGGC; 13:47931845-47931848 |
lung | small_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.799_836del38; 13:47835032-47835069 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Deletion - Frameshift; c.1656_1671del16; 13:47853541-47853556 |
y; ovary | serous_carcinoma; carcinoma |
Deletion - Frameshift; c.336_340delGATGT; 13:47814807-47814811 |
eye; retina | retinoblastoma |
Deletion - Frameshift; c.1980_1983delCCGG; 13:47931844-47931847 |
lung | small_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.45_79delTGCCGCCGCGGAACCCCCGGCACCGCCGCCGCCGC; 13:47776094-47776128 |
lung | carcinoma |
Deletion - Frameshift; c.2283delG; 13:47937206-47937206 |
lung | small_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.1346delG; 13:47851744-47851744 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Deletion - Frameshift; c.2495delT; 13:47945502-47945502 |
lung | small_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.2490_2520del31; 13:47945497-47945527 |
lung | atypical; carcinoid-endocrine_tumour |
Deletion - Frameshift; c.648delT; 13:47832194-47832194 |
soft_tissue; fibrous_tissue_and_uncertain_origin | storiform_pleomorphic; malignant_fibrous_histiocytoma-pleomorphic_sarcoma |
Deletion - Frameshift; c.401_404delTACT; 13:47817237-47817240 |
eye; retina | retinoblastoma |
Deletion - In frame; c.2107_2211del105; 13:47935868-47935972 |
ovary | endometrioid_carcinoma; carcinoma |
Deletion - Frameshift; c.369_370delAT; 13:47814841-47814842 |
eye; retina | retinoblastoma |
Deletion - Frameshift; c.1735_1744del10; 13:47925169-47925178 |
eye; retina | retinoblastoma |
Deletion - Frameshift; c.61_74delCCGGCACCGCCGCC; 13:47776110-47776123 |
breast | carcinoma |
Deletion - Frameshift; c.124delC; 13:47776173-47776173 |
breast | carcinoma |
Deletion - Frameshift; c.1848delA; 13:47928369-47928369 |
lung | small_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.1585delT; 13:47853466-47853466 |
lung | carcinoid-endocrine_tumour |
Deletion - Frameshift; c.1167_1174delAAATTCTG; 13:47845581-47845588 |
liver | hepatocellular_carcinoma; carcinoma |
Deletion - Frameshift; c.1447_1448delCA; 13:47852327-47852328 |
eye; retina | retinoblastoma |
Deletion - Frameshift; c.1537_1538delTC; 13:47853422-47853423 |
prostate | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1456_1457delTT; 13:47852336-47852337 |
urinary_tract; bladder | carcinoma |
Deletion - Frameshift; c.1190delC; 13:47845604-47845604 |
central_nervous_system; brain | astrocytoma; glioma |
Deletion - Frameshift; c.1190delC; 13:47845604-47845604 |
central_nervous_system; brain | astrocytoma; glioma |
Deletion - Frameshift; c.1017_1039del23; 13:47839708-47839730 |
n; lung | adenocarcinoma; carcinoma |
Other Mutation | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Whole gene deletion; c.1_2787del2787; 13:47776050-47952208 |
breast | luminal_NS_carcinoma; carcinoma |
Whole gene deletion; c.1_2787del2787; 13:47776050-47952208 |
bone; tibia | malignant_fibrous_histiocytoma-pleomorphic_sarcoma |
Whole gene deletion; c.1_2787del2787; 13:47776050-47952208 |
breast | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_2787del2787; 13:47776050-47952208 |
bone; femur | malignant_fibrous_histiocytoma-pleomorphic_sarcoma |
Whole gene deletion; c.1_2787del2787; 13:47776050-47952208 |
soft_tissue; fibrous_tissue_and_uncertain_origin; small_intestine | gastrointestinal_stromal_tumour |
Complex - deletion inframe; c.719_724delAAACAG; 13:47834952-47834957 |
kidney | clear_cell_renal_cell_carcinoma; carcinoma |
Whole gene deletion; c.1_2787del2787; 13:47776050-47952208 |
eye; retina | retinoblastoma |
Complex - frameshift; c.1504_1510ACATCTC>TCTCAAGAATCTCAAGAATCA; 13:47853389-47853395 |
eye; retina | retinoblastoma |
Complex - deletion inframe; c.2687_2689delAAT; 13:47949515-47949517 |
urinary_tract; bladder | transitional_cell_carcinoma; carcinoma |
Whole gene deletion; c.1_2787del2787; 13:47776050-47952208 |
bone; femur | malignant_fibrous_histiocytoma-pleomorphic_sarcoma |
Whole gene deletion; c.1_2787del2787; 13:47776050-47952208 |
bone; femur | malignant_fibrous_histiocytoma-pleomorphic_sarcoma |
Whole gene deletion; c.1_2787del2787; 13:47776050-47952208 |
bone; pelvis | malignant_fibrous_histiocytoma-pleomorphic_sarcoma |
Complex - frameshift; c.2307_2308GC>TT; 13:47937230-47937231 |
lung | small_cell_carcinoma; carcinoma |
Whole gene deletion; c.1_2787del2787; 13:47776050-47952208 |
bone; tibia | malignant_fibrous_histiocytoma-pleomorphic_sarcoma |
Whole gene deletion; c.1_2787del2787; 13:47776050-47952208 |
bone; pelvis | malignant_fibrous_histiocytoma-pleomorphic_sarcoma |
Complex - frameshift; c.484_485TT>C; 13:47817320-47817321 |
eye; retina | retinoblastoma |
Whole gene deletion; c.1_2787del2787; 13:47776050-47952208 |
endometrium | adenocarcinoma; carcinoma |
Whole gene deletion; c.1_2787del2787; 13:47776050-47952208 |
bone; pelvis | malignant_fibrous_histiocytoma-pleomorphic_sarcoma |
Whole gene deletion; c.1_2787del2787; 13:47776050-47952208 |
bone; pelvis | malignant_fibrous_histiocytoma-pleomorphic_sarcoma |