Entrez Gene

Basic Information
Gene ID	699
Name	BUB1
Synonymous	BUB1 mitotic checkpoint serine/threonine kinase;BUB1;BUB1 mitotic checkpoint serine/threonine kinase
Definition	BUB1 budding uninhibited by benzimidazoles 1 homolog\|budding uninhibited by benzimidazoles 1 homolog\|mitotic checkpoint serine/threonine-protein kinase BUB1\|mitotic spindle checkpoint kinase\|putative serine/threonine-protein kinase
Position	2q14
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.573A>T; p.S191S; 2:110667844-110667844	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.127G>C; p.E43Q; 2:110674184-110674184	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.730C>T; p.R244C; 2:110667596-110667596	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2912T>G; p.F971C; 2:110641077-110641077	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.730C>T; p.R244C; 2:110667596-110667596	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2070G>T; p.E690D; 2:110650679-110650679	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.584G>C; p.G195A; 2:110667833-110667833	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1310C>A; p.S437Y; 2:110658709-110658709	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1310C>A; p.S437Y; 2:110658709-110658709	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1142G>A; p.S381N; 2:110661657-110661657	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1663G>A; p.E555K; 2:110657071-110657071	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1606G>T; p.E536*; 2:110657556-110657556	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1606G>T; p.E536*; 2:110657556-110657556	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.896A>C; p.K299T; 2:110666324-110666324	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.547G>A; p.A183T; 2:110669473-110669473	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.183A>T; p.K61N; 2:110674128-110674128	skin	malignant_melanoma	Substitution - Missense
c.547G>A; p.A183T; 2:110669473-110669473	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2666T>A; p.M889K; 2:110641424-110641424	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1656C>A; p.T552T; 2:110657078-110657078	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2118C>T; p.A706A; 2:110650631-110650631	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2032C>G; p.L678V; 2:110650717-110650717	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2895G>T; p.K965N; 2:110641094-110641094	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1356G>A; p.T452T; 2:110658663-110658663	large_intestine; colon	NS	Substitution - coding silent
c.1723T>G; p.F575V; 2:110655892-110655892	urinary_tract; bladder	carcinoma	Substitution - Missense
c.439C>T; p.L147F; 2:110670552-110670552	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.949A>G; p.R317G; 2:110666271-110666271	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2982A>G; p.T994T; 2:110639822-110639822	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1410C>T; p.F470F; 2:110658516-110658516	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2982A>G; p.T994T; 2:110639822-110639822	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2590T>A; p.L864I; 2:110641677-110641677	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.163G>A; p.E55K; 2:110674148-110674148	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.720G>A; p.E240E; 2:110667606-110667606	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1934T>A; p.M645K; 2:110653466-110653466	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2483C>G; p.P828R; 2:110641784-110641784	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2483C>G; p.P828R; 2:110641784-110641784	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2029C>T; p.R677C; 2:110650720-110650720	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2483C>G; p.P828R; 2:110641784-110641784	large_intestine; colon	carcinoma	Substitution - Missense
c.2483C>G; p.P828R; 2:110641784-110641784	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2029C>T; p.R677C; 2:110650720-110650720	skin	malignant_melanoma	Substitution - Missense
c.1698G>T; p.K566N; 2:110657036-110657036	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1692A>C; p.K564N; 2:110657042-110657042	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1937T>C; p.V646A; 2:110653463-110653463	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1084G>T; p.V362F; 2:110661715-110661715	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2093G>A; p.C698Y; 2:110650656-110650656	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1033C>G; p.Q345E; 2:110661766-110661766	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1600A>G; p.N534D; 2:110657562-110657562	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1600A>G; p.N534D; 2:110657562-110657562	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1600A>G; p.N534D; 2:110657562-110657562	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2854G>C; p.D952H; 2:110641135-110641135	breast	carcinoma	Substitution - Missense
c.135G>T; p.L45F; 2:110674176-110674176	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.895A>G; p.K299E; 2:110666325-110666325	central_nervous_system; brain	glioma	Substitution - Missense
c.2187G>T; p.G729G; 2:110650562-110650562	liver	carcinoma	Substitution - coding silent
c.2187G>T; p.G729G; 2:110650562-110650562	liver	carcinoma	Substitution - coding silent
c.2826G>C; p.L942F; 2:110641163-110641163	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1856T>C; p.V619A; 2:110655759-110655759	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2539C>T; p.H847Y; 2:110641728-110641728	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2440A>C; p.N814H; 2:110642142-110642142	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2452T>G; p.F818V; 2:110642130-110642130	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2091T>C; p.A697A; 2:110650658-110650658	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.364C>A; p.L122I; 2:110672719-110672719	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2626-2A>G; p.?; 2:110641466-110641466	urinary_tract; bladder	carcinoma	Unknown
c.2471A>C; p.K824T; 2:110641796-110641796	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1754G>A; p.R585H; 2:110655861-110655861	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1889C>A; p.A630E; 2:110653511-110653511	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2446C>T; p.Q816*; 2:110642136-110642136	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.3129T>A; p.H1043Q; 2:110638093-110638093	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1024G>A; p.V342I; 2:110661775-110661775	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1010C>T; p.A337V; 2:110661789-110661789	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2482C>T; p.P828S; 2:110641785-110641785	skin	malignant_melanoma	Substitution - Missense
c.2832G>T; p.L944L; 2:110641157-110641157	kidney	other; neoplasm	Substitution - coding silent
c.1073C>T; p.A358V; 2:110661726-110661726	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2810A>G; p.D937G; 2:110641179-110641179	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.665A>G; p.H222R; 2:110667661-110667661	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2450A>C; p.K817T; 2:110642132-110642132	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1277-1G>T; p.?; 2:110658743-110658743	breast	carcinoma	Unknown
c.1132A>G; p.T378A; 2:110661667-110661667	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2050G>A; p.G684S; 2:110650699-110650699	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1739C>G; p.T580S; 2:110655876-110655876	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.521C>G; p.S174*; 2:110669499-110669499	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.870A>G; p.K290K; 2:110666350-110666350	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.905A>C; p.Q302P; 2:110666315-110666315	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2809G>T; p.D937Y; 2:110641180-110641180	prostate	carcinoma	Substitution - Missense
c.3162G>A; p.L1054L; 2:110638060-110638060	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3079A>T; p.M1027L; 2:110638143-110638143	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1011G>A; p.A337A; 2:110661788-110661788	breast	carcinoma	Substitution - coding silent
c.42C>T; p.H14H; 2:110674350-110674350	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.75T>C; p.G25G; 2:110674317-110674317	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1985C>T; p.P662L; 2:110650764-110650764	stomach	carcinoma	Substitution - Missense
c.108G>T; p.E36D; 2:110674203-110674203	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2958C>T; p.I986I; 2:110639846-110639846	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1170C>T; p.A390A; 2:110661629-110661629	skin	malignant_melanoma	Substitution - coding silent
c.1269C>T; p.I423I; 2:110659985-110659985	skin	malignant_melanoma	Substitution - coding silent
c.224T>G; p.F75C; 2:110674087-110674087	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3222T>G; p.I1074M; 2:110638000-110638000	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2210T>G; p.I737S; 2:110649371-110649371	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1175C>A; p.T392K; 2:110661624-110661624	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2875G>A; p.G959R; 2:110641114-110641114	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1896G>A; p.Q632Q; 2:110653504-110653504	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1601A>G; p.N534S; 2:110657561-110657561	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1601A>G; p.N534S; 2:110657561-110657561	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1601A>G; p.N534S; 2:110657561-110657561	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.148G>A; p.E50K; 2:110674163-110674163	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2869C>T; p.P957S; 2:110641120-110641120	skin	malignant_melanoma	Substitution - Missense
c.1287A>G; p.T429T; 2:110658732-110658732	breast	carcinoma	Substitution - coding silent
c.1863T>C; p.I621I; 2:110655752-110655752	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.668C>G; p.S223*; 2:110667658-110667658	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2784_2785insG; p.F929fs*6; 2:110641204-110641205	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.971G>A; p.R324H; 2:110661828-110661828	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2341C>A; p.Q781K; 2:110649240-110649240	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.78A>G; p.E26E; 2:110674314-110674314	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1405G>A; p.G469S; 2:110658614-110658614	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2231A>T; p.D744V; 2:110649350-110649350	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2467C>T; p.Q823*; 2:110641800-110641800	skin	malignant_melanoma	Substitution - Nonsense
c.552C>T; p.C184C; 2:110669468-110669468	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2203+5G>T; p.?; 2:110650541-110650541	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.38C>T; p.A13V; 2:110674354-110674354	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.93A>G; p.I31M; 2:110674218-110674218	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2706T>C; p.L902L; 2:110641384-110641384	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2769C>G; p.F923L; 2:110641321-110641321	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1717G>A; p.E573K; 2:110655898-110655898	skin	malignant_melanoma	Substitution - Missense
c.1908G>A; p.A636A; 2:110653492-110653492	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1908G>A; p.A636A; 2:110653492-110653492	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1908G>A; p.A636A; 2:110653492-110653492	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1321A>C; p.T441P; 2:110658698-110658698	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1908G>A; p.A636A; 2:110653492-110653492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2331G>A; p.K777K; 2:110649250-110649250	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1616+1G>A; p.?; 2:110657545-110657545	ovary	carcinoma; serous_carcinoma	Unknown
c.2630C>T; p.A877V; 2:110641460-110641460	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1684C>T; p.P562S; 2:110657050-110657050	skin	malignant_melanoma	Substitution - Missense
c.1234A>G; p.T412A; 2:110660020-110660020	breast	carcinoma	Substitution - Missense
c.64G>A; p.D22N; 2:110674328-110674328	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2120T>G; p.I707S; 2:110650629-110650629	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1575T>A; p.S525S; 2:110657587-110657587	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1090C>T; p.P364S; 2:110661709-110661709	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.591A>G; p.I197M; 2:110667826-110667826	large_intestine; rectum	NS	Substitution - Missense
c.2058A>G; p.V686V; 2:110650691-110650691	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2953C>A; p.Q985K; 2:110641036-110641036	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.87-8T>C; p.?; 2:110674232-110674232	NS	NS	Unknown
c.1760A>G; p.N587S; 2:110655855-110655855	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2518A>T; p.R840*; 2:110641749-110641749	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1660G>A; p.G554R; 2:110657074-110657074	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.806-2delA; p.?; 2:110666416-110666416	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.1655C>T; p.T552I; 2:110657079-110657079	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2781C>T; p.N927N; 2:110641309-110641309	central_nervous_system; brain	glioma	Substitution - coding silent
c.660_677del18; p.V221_S227>S; 2:110667649-110667666	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Complex - deletion inframe
c.2083G>T; p.V695F; 2:110650666-110650666	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2587G>C; p.V863L; 2:110641680-110641680	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2230G>A; p.D744N; 2:110649351-110649351	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.793C>A; p.H265N; 2:110667533-110667533	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1922G>T; p.C641F; 2:110653478-110653478	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2000C>T; p.S667L; 2:110650749-110650749	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2708A>G; p.Y903C; 2:110641382-110641382	liver	carcinoma	Substitution - Missense
c.1381A>G; p.T461A; 2:110658638-110658638	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2744A>G; p.H915R; 2:110641346-110641346	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3202G>A; p.A1068T; 2:110638020-110638020	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.776A>G; p.Y259C; 2:110667550-110667550	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1938G>A; p.V646V; 2:110653462-110653462	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1063C>A; p.P355T; 2:110661736-110661736	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1313T>G; p.F438C; 2:110658706-110658706	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1313T>G; p.F438C; 2:110658706-110658706	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1008A>G; p.R336R; 2:110661791-110661791	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2959G>A; p.D987N; 2:110639845-110639845	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.437G>A; p.R146H; 2:110670554-110670554	soft_tissue; striated_muscle	rhabdomyosarcoma; alveolar	Substitution - Missense
c.437G>A; p.R146H; 2:110670554-110670554	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.74G>T; p.G25V; 2:110674318-110674318	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2325G>A; p.K775K; 2:110649256-110649256	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2113G>A; p.A705T; 2:110650636-110650636	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1373C>A; p.P458Q; 2:110658646-110658646	prostate	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]