Entrez Gene

Basic Information
Gene ID	5932
Name	RBBP8
Synonymous	retinoblastoma binding protein 8;RBBP8;retinoblastoma binding protein 8
Definition	CTBP-interacting protein\|DNA endonuclease RBBP8\|RBBP-8\|sporulation in the absence of SPO11 protein 2 homolog
Position	18q11.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1309C>A; p.L437M; 18:22993136-22993136	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1791G>T; p.E597D; 18:22993618-22993618	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2590G>A; p.E864K; 18:23022264-23022264	central_nervous_system; brain	glioma	Substitution - Missense
c.2494T>C; p.L832L; 18:23022168-23022168	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.562G>T; p.E188*; 18:22982351-22982351	breast	carcinoma	Substitution - Nonsense
c.2670A>C; p.P890P; 18:23026216-23026216	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2087G>A; p.S696N; 18:22997678-22997678	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1063delA; p.K357fs*3; 18:22992890-22992890	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1063delA; p.K357fs*3; 18:22992890-22992890	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1063delA; p.K357fs*3; 18:22992890-22992890	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1063delA; p.K357fs*3; 18:22992890-22992890	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1063delA; p.K357fs*3; 18:22992890-22992890	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1063delA; p.K357fs*3; 18:22992890-22992890	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.981T>A; p.S327S; 18:22992808-22992808	skin	malignant_melanoma	Substitution - coding silent
c.1063delA; p.K357fs*3; 18:22992890-22992890	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1063delA; p.K357fs*3; 18:22992890-22992890	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1063delA; p.K357fs*3; 18:22992890-22992890	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1063delA; p.K357fs*3; 18:22992890-22992890	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1063delA; p.K357fs*3; 18:22992890-22992890	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1063delA; p.K357fs*3; 18:22992890-22992890	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.1063delA; p.K357fs*3; 18:22992890-22992890	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1493C>A; p.S498*; 18:22993320-22993320	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1040C>T; p.S347F; 18:22992867-22992867	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2305G>T; p.D769Y; 18:23006380-23006380	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1728A>C; p.Q576H; 18:22993555-22993555	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.846_847insTACCACTG; p.L286fs*24; 18:22990975-22990976	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Insertion - Frameshift
c.1393T>G; p.F465V; 18:22993220-22993220	thyroid	other; neoplasm	Substitution - Missense
c.1434_1446del13; p.F479fs*4; 18:22993261-22993273	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.291A>G; p.E97E; 18:22968848-22968848	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - coding silent
c.1306C>T; p.P436S; 18:22993133-22993133	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1306C>T; p.P436S; 18:22993133-22993133	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1306C>T; p.P436S; 18:22993133-22993133	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.667C>A; p.L223I; 18:22984948-22984948	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2485G>T; p.E829*; 18:23022159-23022159	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2485G>T; p.E829*; 18:23022159-23022159	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1972G>T; p.D658Y; 18:22996406-22996406	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1085T>A; p.L362H; 18:22992912-22992912	skin	malignant_melanoma	Substitution - Missense
c.2429G>T; p.G810V; 18:23016899-23016899	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2429G>T; p.G810V; 18:23016899-23016899	breast	carcinoma	Substitution - Missense
c.621C>A; p.S207S; 18:22984902-22984902	liver	carcinoma	Substitution - coding silent
c.609G>A; p.M203I; 18:22984890-22984890	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1659C>A; p.P553P; 18:22993486-22993486	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2679G>T; p.K893N; 18:23026225-23026225	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.11C>T; p.S4L; 18:22936862-22936862	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.958G>A; p.E320K; 18:22992785-22992785	skin	malignant_melanoma	Substitution - Missense
c.1701C>G; p.C567W; 18:22993528-22993528	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1705C>A; p.P569T; 18:22993532-22993532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2641C>T; p.R881C; 18:23026187-23026187	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2019A>T; p.I673I; 18:22996453-22996453	skin	malignant_melanoma	Substitution - coding silent
c.853T>G; p.C285G; 18:22990982-22990982	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2283A>G; p.L761L; 18:23001725-23001725	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.634C>T; p.H212Y; 18:22984915-22984915	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.970C>T; p.R324*; 18:22992797-22992797	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.216C>T; p.V72V; 18:22949681-22949681	skin	malignant_melanoma	Substitution - coding silent
c.1948_1952delTTTGA; p.F650fs*16; 18:22996382-22996386	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.827G>A; p.S276N; 18:22990956-22990956	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1327C>T; p.R443*; 18:22993154-22993154	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.684T>C; p.Y228Y; 18:22984965-22984965	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.663A>T; p.E221D; 18:22984944-22984944	oesophagus	carcinoma	Substitution - Missense
c.1363_1364delGA; p.E455fs*2; 18:22993190-22993191	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.475G>A; p.V159I; 18:22982264-22982264	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.109G>T; p.G37C; 18:22936960-22936960	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.300G>T; p.R100R; 18:22968857-22968857	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1063A>G; p.K355E; 18:22992890-22992890	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2254G>C; p.E752Q; 18:23001696-23001696	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2254G>C; p.E752Q; 18:23001696-23001696	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2254G>C; p.E752Q; 18:23001696-23001696	breast	carcinoma	Substitution - Missense
c.1719A>G; p.P573P; 18:22993546-22993546	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.272G>A; p.R91H; 18:22968829-22968829	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.272G>A; p.R91H; 18:22968829-22968829	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2627C>T; p.P876L; 18:23026173-23026173	prostate	carcinoma	Substitution - Missense
c.1180G>A; p.V394M; 18:22993007-22993007	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1180G>A; p.V394M; 18:22993007-22993007	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2435C>T; p.T812M; 18:23016905-23016905	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1125T>A; p.T375T; 18:22992952-22992952	breast	carcinoma	Substitution - coding silent
c.1062G>A; p.G354G; 18:22992889-22992889	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.298_299insC; p.R100fs*8; 18:22968855-22968856	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Insertion - Frameshift
c.831C>T; p.P277P; 18:22990960-22990960	skin	malignant_melanoma	Substitution - coding silent
c.2115G>A; p.K705K; 18:22997706-22997706	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1598C>T; p.S533F; 18:22993425-22993425	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1659C>G; p.P553P; 18:22993486-22993486	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1659C>G; p.P553P; 18:22993486-22993486	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1598C>T; p.S533F; 18:22993425-22993425	skin	malignant_melanoma	Substitution - Missense
c.1111A>C; p.R371R; 18:22992938-22992938	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2302C>G; p.Q768E; 18:23006377-23006377	liver	carcinoma	Substitution - Missense
c.546C>T; p.P182P; 18:22982335-22982335	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2302C>G; p.Q768E; 18:23006377-23006377	liver	carcinoma	Substitution - Missense
c.2302C>G; p.Q768E; 18:23006377-23006377	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.554G>A; p.R185Q; 18:22982343-22982343	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.1501C>T; p.Q501*; 18:22993328-22993328	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1527T>G; p.S509R; 18:22993354-22993354	skin	malignant_melanoma	Substitution - Missense
c.1234A>G; p.I412V; 18:22993061-22993061	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.799G>A; p.E267K; 18:22989310-22989310	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2015delT; p.V672fs*2; 18:22996449-22996449	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2666C>A; p.S889Y; 18:23026212-23026212	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.329G>A; p.R110Q; 18:22968886-22968886	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.557A>G; p.Y186C; 18:22982346-22982346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.667C>T; p.L223L; 18:22984948-22984948	liver	carcinoma	Substitution - coding silent
c.667C>T; p.L223L; 18:22984948-22984948	liver	carcinoma	Substitution - coding silent
c.2033G>A; p.G678D; 18:22997624-22997624	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1063_1064insA; p.H358fs*8; 18:22992890-22992891	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2515C>T; p.R839*; 18:23022189-23022189	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2515C>T; p.R839*; 18:23022189-23022189	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.172G>A; p.E58K; 18:22949637-22949637	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.551T>C; p.V184A; 18:22982340-22982340	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1670A>T; p.E557V; 18:22993497-22993497	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2061A>G; p.T687T; 18:22997652-22997652	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2383C>G; p.H795D; 18:23016853-23016853	breast	carcinoma	Substitution - Missense
c.2211A>T; p.E737D; 18:23001653-23001653	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1856A>T; p.D619V; 18:22993764-22993764	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1147G>T; p.A383S; 18:22992974-22992974	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.172G>C; p.E58Q; 18:22949637-22949637	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.773C>G; p.A258G; 18:22989284-22989284	central_nervous_system; brain	glioma	Substitution - Missense
c.1061G>T; p.G354V; 18:22992888-22992888	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1487G>A; p.R496Q; 18:22993314-22993314	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2627C>G; p.P876R; 18:23026173-23026173	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1351G>A; p.E451K; 18:22993178-22993178	breast	carcinoma	Substitution - Missense
c.1369G>A; p.E457K; 18:22993196-22993196	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.637C>T; p.P213S; 18:22984918-22984918	skin	malignant_melanoma	Substitution - Missense
c.525G>A; p.R175R; 18:22982314-22982314	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1504C>T; p.R502C; 18:22993331-22993331	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2188C>T; p.R730W; 18:23001630-23001630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2612A>G; p.D871G; 18:23026158-23026158	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1349C>G; p.T450S; 18:22993176-22993176	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.36C>A; p.N12K; 18:22936887-22936887	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1977G>A; p.P659P; 18:22996411-22996411	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2456A>G; p.Y819C; 18:23022130-23022130	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1858C>T; p.H620Y; 18:22993766-22993766	skin	malignant_melanoma	Substitution - Missense
c.530G>A; p.R177Q; 18:22982319-22982319	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1471C>G; p.L491V; 18:22993298-22993298	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1471C>G; p.L491V; 18:22993298-22993298	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1322G>A; p.G441E; 18:22993149-22993149	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1305G>T; p.E435D; 18:22993132-22993132	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2447G>T; p.C816F; 18:23016917-23016917	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2447G>T; p.C816F; 18:23016917-23016917	large_intestine; colon	carcinoma	Substitution - Missense
c.85G>T; p.E29*; 18:22936936-22936936	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.172G>T; p.E58*; 18:22949637-22949637	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1544_1571del28; p.K515fs*2; 18:22993371-22993398	breast	carcinoma	Deletion - Frameshift
c.315G>T; p.E105D; 18:22968872-22968872	thyroid	other; neoplasm	Substitution - Missense

COSMIC somatic mutation [Top]