Entrez Gene

Basic Information
Gene ID	27085
Name	MTBP
Synonymous	MDM2 binding protein;MTBP;MDM2 binding protein
Definition	MDM2 (mouse double minute 2)-binding protein, 104kD\|Mdm2, transformed 3T3 cell double minute 2, p53 binding protein binding protein, 104kDa\|mdm2-binding protein
Position	8q24.12
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2183G>A; p.R728Q; 8:120516128-120516128	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2183G>A; p.R728Q; 8:120516128-120516128	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2437A>T; p.M813L; 8:120518041-120518041	skin	malignant_melanoma	Substitution - Missense
c.1177G>A; p.E393K; 8:120488170-120488170	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1165+2T>G; p.?; 8:120470939-120470939	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1593C>T; p.T531T; 8:120497538-120497538	skin	malignant_melanoma	Substitution - coding silent
c.2377C>T; p.P793S; 8:120517981-120517981	skin	malignant_melanoma	Substitution - Missense
c.1805A>T; p.D602V; 8:120506783-120506783	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1187G>T; p.G396V; 8:120488180-120488180	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1991A>G; p.D664G; 8:120515936-120515936	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2159G>A; p.G720E; 8:120516104-120516104	skin	malignant_melanoma	Substitution - Missense
c.516T>G; p.L172L; 8:120455466-120455466	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2346A>G; p.E782E; 8:120517950-120517950	thyroid	other; neoplasm	Substitution - coding silent
c.1070C>T; p.P357L; 8:120470842-120470842	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2380A>G; p.I794V; 8:120517984-120517984	prostate	adenoma	Substitution - Missense
c.401G>A; p.S134N; 8:120451298-120451298	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.484+2T>C; p.?; 8:120453907-120453907	stomach	carcinoma; adenocarcinoma	Unknown
c.960G>A; p.S320S; 8:120461238-120461238	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.960G>A; p.S320S; 8:120461238-120461238	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2273C>T; p.S758F; 8:120517877-120517877	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1047G>A; p.K349K; 8:120463761-120463761	skin	malignant_melanoma	Substitution - coding silent
c.2037G>T; p.Q679H; 8:120515982-120515982	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1658C>T; p.P553L; 8:120502540-120502540	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1609+2T>C; p.?; 8:120497556-120497556	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Unknown
c.1343T>A; p.F448Y; 8:120490466-120490466	skin	malignant_melanoma	Substitution - Missense
c.1858C>A; p.L620I; 8:120506836-120506836	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1700C>T; p.T567I; 8:120502582-120502582	skin; trunk	malignant_melanoma	Substitution - Missense
c.302A>C; p.H101P; 8:120451199-120451199	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.431A>G; p.Y144C; 8:120453852-120453852	pancreas	carcinoma	Substitution - Missense
c.45C>T; p.F15F; 8:120445515-120445515	skin	malignant_melanoma	Substitution - coding silent
c.45C>T; p.F15F; 8:120445515-120445515	skin	malignant_melanoma	Substitution - coding silent
c.2370A>G; p.P790P; 8:120517974-120517974	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.910G>T; p.E304*; 8:120461188-120461188	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.916G>A; p.V306M; 8:120461194-120461194	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.108G>T; p.E36D; 8:120445578-120445578	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1453C>T; p.R485*; 8:120497398-120497398	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2474C>T; p.S825L; 8:120518078-120518078	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.484+5T>G; p.?; 8:120453910-120453910	liver	carcinoma	Unknown
c.1759T>C; p.L587L; 8:120506737-120506737	skin	malignant_melanoma	Substitution - coding silent
c.484+5T>G; p.?; 8:120453910-120453910	liver	carcinoma	Unknown
c.1583A>C; p.K528T; 8:120497528-120497528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.942A>G; p.L314L; 8:120461220-120461220	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2308T>C; p.Y770H; 8:120517912-120517912	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1783C>T; p.R595W; 8:120506761-120506761	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.2351C>T; p.S784F; 8:120517955-120517955	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2351C>T; p.S784F; 8:120517955-120517955	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2351C>T; p.S784F; 8:120517955-120517955	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1743T>C; p.P581P; 8:120506721-120506721	skin	malignant_melanoma	Substitution - coding silent
c.382_384delGAA; p.E130delE; 8:120451279-120451281	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.2066C>G; p.T689S; 8:120516011-120516011	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2638G>T; p.E880*; 8:120522681-120522681	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2557T>C; p.C853R; 8:120518764-120518764	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.319G>T; p.D107Y; 8:120451216-120451216	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1300C>A; p.H434N; 8:120488293-120488293	urinary_tract; bladder	carcinoma	Substitution - Missense
c.84_116del33; p.V29_P39del11; 8:120445554-120445586	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.743G>T; p.R248I; 8:120456666-120456666	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.339T>G; p.L113L; 8:120451236-120451236	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1736C>A; p.S579*; 8:120506714-120506714	pancreas	carcinoma	Substitution - Nonsense
c.2102T>C; p.V701A; 8:120516047-120516047	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1736C>A; p.S579*; 8:120506714-120506714	pancreas	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.436G>T; p.E146*; 8:120453857-120453857	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1870C>T; p.P624S; 8:120506848-120506848	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.206C>T; p.S69L; 8:120451009-120451009	urinary_tract; bladder	carcinoma	Substitution - Missense
c.206C>T; p.S69L; 8:120451009-120451009	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.328G>A; p.E110K; 8:120451225-120451225	breast	carcinoma	Substitution - Missense
c.206C>T; p.S69L; 8:120451009-120451009	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1058delT; p.F354fs*11; 8:120470830-120470830	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1272C>T; p.I424I; 8:120488265-120488265	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2586T>G; p.F862L; 8:120518793-120518793	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1880A>G; p.K627R; 8:120506858-120506858	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2305C>T; p.H769Y; 8:120517909-120517909	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2582T>A; p.L861H; 8:120518789-120518789	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2201T>C; p.L734S; 8:120516146-120516146	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.29delG; p.E12fs*39; 8:120445499-120445499	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.619C>A; p.H207N; 8:120455569-120455569	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2160A>G; p.G720G; 8:120516105-120516105	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.376T>G; p.C126G; 8:120451273-120451273	large_intestine; rectum	NS	Substitution - Missense
c.84G>T; p.E28D; 8:120445554-120445554	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1454G>A; p.R485Q; 8:120497399-120497399	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2407G>C; p.A803P; 8:120518011-120518011	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1543G>C; p.D515H; 8:120497488-120497488	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.438A>G; p.E146E; 8:120453859-120453859	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.904G>A; p.A302T; 8:120461182-120461182	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.437A>G; p.E146G; 8:120453858-120453858	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.499G>T; p.D167Y; 8:120455449-120455449	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.437A>G; p.E146G; 8:120453858-120453858	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.38G>A; p.G13E; 8:120445508-120445508	thyroid	carcinoma	Substitution - Missense
c.1653C>A; p.T551T; 8:120502535-120502535	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.637C>G; p.Q213E; 8:120456560-120456560	breast	carcinoma	Substitution - Missense
c.1370A>G; p.H457R; 8:120490493-120490493	pancreas	carcinoma	Substitution - Missense
c.118G>C; p.D40H; 8:120445588-120445588	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1376C>T; p.S459F; 8:120490499-120490499	skin	malignant_melanoma	Substitution - Missense
c.1638A>G; p.S546S; 8:120502520-120502520	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1502G>C; p.S501T; 8:120497447-120497447	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2562C>T; p.F854F; 8:120518769-120518769	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1997G>A; p.R666Q; 8:120515942-120515942	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1997G>A; p.R666Q; 8:120515942-120515942	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1780C>T; p.P594S; 8:120506758-120506758	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2456C>T; p.S819L; 8:120518060-120518060	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2506G>T; p.E836*; 8:120518713-120518713	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.164G>A; p.S55N; 8:120446478-120446478	ovary	other; neoplasm	Substitution - Missense
c.1146A>C; p.K382N; 8:120470918-120470918	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1156A>G; p.T386A; 8:120470928-120470928	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2279T>A; p.L760H; 8:120517883-120517883	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2705G>A; p.S902N; 8:120523326-120523326	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.328G>C; p.E110Q; 8:120451225-120451225	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1106A>C; p.N369T; 8:120470878-120470878	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.835C>T; p.L279F; 8:120459302-120459302	skin	malignant_melanoma	Substitution - Missense
c.835C>T; p.L279F; 8:120459302-120459302	skin	malignant_melanoma	Substitution - Missense
c.201C>T; p.A67A; 8:120451004-120451004	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2090C>T; p.P697L; 8:120516035-120516035	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1461G>A; p.L487L; 8:120497406-120497406	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.550T>A; p.L184I; 8:120455500-120455500	skin; neck	malignant_melanoma	Substitution - Missense
c.188G>A; p.S63N; 8:120446502-120446502	breast	carcinoma	Substitution - Missense
c.1966T>C; p.Y656H; 8:120510016-120510016	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1236A>T; p.R412S; 8:120488229-120488229	liver	carcinoma	Substitution - Missense
c.1236A>T; p.R412S; 8:120488229-120488229	liver	carcinoma	Substitution - Missense
c.2477G>T; p.R826I; 8:120518081-120518081	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1825T>C; p.Y609H; 8:120506803-120506803	skin	malignant_melanoma	Substitution - Missense
c.2158G>A; p.G720R; 8:120516103-120516103	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.436G>A; p.E146K; 8:120453857-120453857	skin	malignant_melanoma	Substitution - Missense
c.526G>A; p.D176N; 8:120455476-120455476	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1161C>A; p.I387I; 8:120470933-120470933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.889C>T; p.H297Y; 8:120461167-120461167	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.687C>T; p.L229L; 8:120456610-120456610	liver	carcinoma	Substitution - coding silent
c.1504C>T; p.L502L; 8:120497449-120497449	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1538A>T; p.Y513F; 8:120497483-120497483	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2267C>T; p.S756L; 8:120517871-120517871	skin	malignant_melanoma	Substitution - Missense
c.2267C>T; p.S756L; 8:120517871-120517871	skin	malignant_melanoma	Substitution - Missense
c.659C>T; p.S220F; 8:120456582-120456582	liver	carcinoma	Substitution - Missense
c.2325A>C; p.T775T; 8:120517929-120517929	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2559T>C; p.C853C; 8:120518766-120518766	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2559T>C; p.C853C; 8:120518766-120518766	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.659C>T; p.S220F; 8:120456582-120456582	liver	carcinoma	Substitution - Missense
c.1464A>T; p.A488A; 8:120497409-120497409	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.2050C>T; p.R684C; 8:120515995-120515995	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.2050C>T; p.R684C; 8:120515995-120515995	skin	malignant_melanoma	Substitution - Missense
c.1781C>T; p.P594L; 8:120506759-120506759	skin	malignant_melanoma	Substitution - Missense
c.2024T>C; p.F675S; 8:120515969-120515969	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1527C>T; p.H509H; 8:120497472-120497472	liver	carcinoma	Substitution - coding silent
c.1527C>T; p.H509H; 8:120497472-120497472	liver	carcinoma	Substitution - coding silent
c.344C>T; p.T115M; 8:120451241-120451241	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1885G>T; p.E629*; 8:120509935-120509935	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2033T>A; p.L678H; 8:120515978-120515978	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]