Entrez Gene

Basic Information
Gene ID	7159
Name	TP53BP2
Synonymous	tumor protein p53 binding protein 2;TP53BP2;tumor protein p53 binding protein 2
Definition	BCL2-binding protein\|apoptosis-stimulating of p53 protein 2\|apoptosis-stimulating protein of p53, 2\|renal carcinoma antigen NY-REN-51\|tumor protein p53 binding protein, 2\|tumor suppressor p53-binding protein 2
Position	1q41
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.05.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2822C>T; p.A941V; 1:223784269-223784269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2822C>T; p.A941V; 1:223784269-223784269	pancreas	carcinoma	Substitution - Missense
c.2822C>T; p.A941V; 1:223784269-223784269	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.763A>G; p.I255V; 1:223802191-223802191	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1373_1375delCCG; p.A458delA; 1:223798401-223798403	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.2905G>A; p.E969K; 1:223784186-223784186	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.783G>A; p.P261P; 1:223802171-223802171	skin	malignant_melanoma	Substitution - coding silent
c.1015G>A; p.A339T; 1:223799982-223799982	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1937C>G; p.S646*; 1:223796215-223796215	breast	carcinoma	Substitution - Nonsense
c.1545G>T; p.G515G; 1:223798231-223798231	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1044C>T; p.S348S; 1:223799953-223799953	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.1044C>T; p.S348S; 1:223799953-223799953	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.1044C>T; p.S348S; 1:223799953-223799953	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.2702G>T; p.S901I; 1:223789082-223789082	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2640C>T; p.N880N; 1:223789144-223789144	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2481T>C; p.D827D; 1:223792517-223792517	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2380G>A; p.A794T; 1:223793398-223793398	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.351G>A; p.R117R; 1:223803364-223803364	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2380G>A; p.A794T; 1:223793398-223793398	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2481T>C; p.D827D; 1:223792517-223792517	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2020G>A; p.E674K; 1:223796132-223796132	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1284G>A; p.P428P; 1:223798492-223798492	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.631C>T; p.P211S; 1:223802323-223802323	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.692C>T; p.S231F; 1:223802262-223802262	skin; trunk	malignant_melanoma	Substitution - Missense
c.1715G>A; p.R572Q; 1:223796437-223796437	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2357G>A; p.R786H; 1:223793421-223793421	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1899G>A; p.R633R; 1:223796253-223796253	skin	malignant_melanoma	Substitution - coding silent
c.1899G>A; p.R633R; 1:223796253-223796253	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1193C>T; p.P398L; 1:223798583-223798583	prostate	carcinoma	Substitution - Missense
c.2188C>G; p.P730A; 1:223795964-223795964	kidney	other; neoplasm	Substitution - Missense
c.1378C>T; p.R460W; 1:223798398-223798398	oesophagus	carcinoma	Substitution - Missense
c.2768T>G; p.F923C; 1:223789016-223789016	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1812C>T; p.N604N; 1:223796340-223796340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.807C>T; p.N269N; 1:223802147-223802147	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2823G>A; p.A941A; 1:223784268-223784268	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2976+1G>A; p.?; 1:223784114-223784114	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2939A>T; p.N980I; 1:223784152-223784152	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.2939A>T; p.N980I; 1:223784152-223784152	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.2939A>T; p.N980I; 1:223784152-223784152	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2802G>A; p.M934I; 1:223784289-223784289	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.994C>T; p.R332C; 1:223800003-223800003	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.994C>T; p.R332C; 1:223800003-223800003	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.544G>A; p.V182I; 1:223802796-223802796	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2479G>C; p.D827H; 1:223792519-223792519	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.16G>T; p.A6S; 1:223806917-223806917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1133C>A; p.P378H; 1:223798643-223798643	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.649G>A; p.A217T; 1:223802305-223802305	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.521A>G; p.E174G; 1:223802819-223802819	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.360G>C; p.E120D; 1:223803355-223803355	breast	carcinoma	Substitution - Missense
c.2892C>G; p.I964M; 1:223784199-223784199	breast	carcinoma	Substitution - Missense
c.2254C>T; p.P752S; 1:223795898-223795898	skin	malignant_melanoma	Substitution - Missense
c.1286G>A; p.R429K; 1:223798490-223798490	skin	malignant_melanoma	Substitution - Missense
c.2822C>G; p.A941G; 1:223784269-223784269	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.839-2A>T; p.?; 1:223800812-223800812	skin	malignant_melanoma	Unknown
c.1392C>T; p.P464P; 1:223798384-223798384	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.425G>A; p.R142H; 1:223803290-223803290	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1069A>G; p.S357G; 1:223799928-223799928	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.298C>A; p.Q100K; 1:223803417-223803417	skin	malignant_melanoma	Substitution - Missense
c.842C>A; p.S281Y; 1:223800807-223800807	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.298C>A; p.Q100K; 1:223803417-223803417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1400C>T; p.S467F; 1:223798376-223798376	pancreas	carcinoma	Substitution - Missense
c.2569C>T; p.Q857*; 1:223792429-223792429	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2931G>A; p.A977A; 1:223784160-223784160	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1321C>A; p.Q441K; 1:223798455-223798455	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1508C>T; p.A503V; 1:223798268-223798268	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2223G>T; p.E741D; 1:223795929-223795929	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2829G>A; p.W943*; 1:223784262-223784262	skin	malignant_melanoma	Substitution - Nonsense
c.1727C>G; p.P576R; 1:223796425-223796425	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.36A>G; p.A12A; 1:223806897-223806897	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1671T>C; p.P557P; 1:223796481-223796481	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1004C>T; p.S335L; 1:223799993-223799993	breast	carcinoma	Substitution - Missense
c.766C>G; p.Q256E; 1:223802188-223802188	breast	carcinoma	Substitution - Missense
c.2606G>A; p.G869E; 1:223792392-223792392	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.315C>T; p.L105L; 1:223803400-223803400	skin	malignant_melanoma	Substitution - coding silent
c.657C>T; p.S219S; 1:223802297-223802297	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2033T>C; p.V678A; 1:223796119-223796119	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.381C>T; p.I127I; 1:223803334-223803334	skin	malignant_melanoma	Substitution - coding silent
c.2123A>C; p.D708A; 1:223796029-223796029	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1937C>A; p.S646*; 1:223796215-223796215	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.323C>A; p.A108D; 1:223803392-223803392	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2634A>G; p.S878S; 1:223789150-223789150	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2889C>T; p.I963I; 1:223784202-223784202	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2879G>T; p.C960F; 1:223784212-223784212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2999G>T; p.R1000I; 1:223780872-223780872	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2917G>A; p.E973K; 1:223784174-223784174	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.253G>A; p.G85R; 1:223804183-223804183	skin	malignant_melanoma	Substitution - Missense
c.1391C>A; p.P464H; 1:223798385-223798385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1892A>G; p.Y631C; 1:223796260-223796260	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1519G>A; p.A507T; 1:223798257-223798257	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2258C>T; p.S753F; 1:223795894-223795894	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2384A>G; p.H795R; 1:223793394-223793394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2246delC; p.P749fs*16; 1:223795906-223795906	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2246delC; p.P749fs*16; 1:223795906-223795906	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2632T>G; p.S878A; 1:223789152-223789152	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1928C>G; p.S643C; 1:223796224-223796224	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2228A>G; p.Y743C; 1:223795924-223795924	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1092T>G; p.D364E; 1:223799905-223799905	skin	malignant_melanoma	Substitution - Missense
c.1712C>T; p.P571L; 1:223796440-223796440	skin	malignant_melanoma	Substitution - Missense
c.2299C>T; p.R767C; 1:223795853-223795853	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1989A>T; p.E663D; 1:223796163-223796163	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2289G>A; p.S763S; 1:223795863-223795863	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.749A>G; p.D250G; 1:223802205-223802205	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1485G>C; p.A495A; 1:223798291-223798291	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2001A>T; p.P667P; 1:223796151-223796151	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1500C>A; p.F500L; 1:223798276-223798276	liver	carcinoma	Substitution - Missense
c.1017A>G; p.A339A; 1:223799980-223799980	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.38C>A; p.S13Y; 1:223806895-223806895	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2620C>T; p.H874Y; 1:223789164-223789164	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1625C>T; p.S542F; 1:223796527-223796527	skin	malignant_melanoma	Substitution - Missense
c.321G>T; p.L107L; 1:223803394-223803394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1625C>T; p.S542F; 1:223796527-223796527	skin	malignant_melanoma	Substitution - Missense
c.1669C>T; p.P557S; 1:223796483-223796483	skin	malignant_melanoma	Substitution - Missense
c.2778A>G; p.G926G; 1:223784313-223784313	kidney	other; neoplasm	Substitution - coding silent
c.3015C>T; p.A1005A; 1:223780856-223780856	ovary	other; neoplasm	Substitution - coding silent
c.995G>A; p.R332H; 1:223800002-223800002	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1041T>G; p.P347P; 1:223799956-223799956	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1232C>T; p.S411L; 1:223798544-223798544	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.595A>G; p.K199E; 1:223802745-223802745	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1314G>A; p.S438S; 1:223798462-223798462	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1314G>A; p.S438S; 1:223798462-223798462	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1314G>A; p.S438S; 1:223798462-223798462	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1314G>A; p.S438S; 1:223798462-223798462	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2410delC; p.A805fs*4; 1:223793368-223793368	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2176G>A; p.E726K; 1:223795976-223795976	urinary_tract; bladder	carcinoma	Substitution - Missense
c.584C>T; p.A195V; 1:223802756-223802756	skin	malignant_melanoma	Substitution - Missense
c.2228A>C; p.Y743S; 1:223795924-223795924	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2489G>T; p.S830I; 1:223792509-223792509	pancreas	carcinoma	Substitution - Missense
c.1124T>C; p.V375A; 1:223798652-223798652	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1782C>T; p.D594D; 1:223796370-223796370	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1313C>T; p.S438L; 1:223798463-223798463	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1851G>A; p.E617E; 1:223796301-223796301	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.25C>T; p.Q9*; 1:223806908-223806908	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.701C>T; p.P234L; 1:223802253-223802253	pancreas	carcinoma	Substitution - Missense
c.576G>A; p.K192K; 1:223802764-223802764	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2338-5T>C; p.?; 1:223793445-223793445	liver	carcinoma	Unknown
c.1391C>T; p.P464L; 1:223798385-223798385	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2796C>A; p.G932G; 1:223784295-223784295	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2254_2255CC>TT; p.P752L; 1:223795897-223795898	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.207delA; p.V70fs*1; 1:223804229-223804229	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - Frameshift
c.207delA; p.V70fs*1; 1:223804229-223804229	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2014G>A; p.E672K; 1:223796138-223796138	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.686A>T; p.Q229L; 1:223802268-223802268	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.609+10C>T; p.?; 1:223802721-223802721	oesophagus	carcinoma; adenocarcinoma	Unknown
c.555G>C; p.L185L; 1:223802785-223802785	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1755T>C; p.N585N; 1:223796397-223796397	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.214G>T; p.A72S; 1:223804222-223804222	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.957T>C; p.D319D; 1:223800040-223800040	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2462G>T; p.R821I; 1:223793316-223793316	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.340G>T; p.E114*; 1:223803375-223803375	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1917G>A; p.M639I; 1:223796235-223796235	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1568G>C; p.G523A; 1:223796584-223796584	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1789G>A; p.A597T; 1:223796363-223796363	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.839G>A; p.G280D; 1:223800810-223800810	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.421G>A; p.D141N; 1:223803294-223803294	breast	carcinoma	Substitution - Missense
c.2231C>T; p.P744L; 1:223795921-223795921	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1270G>A; p.A424T; 1:223798506-223798506	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2450A>G; p.D817G; 1:223793328-223793328	pancreas	carcinoma	Substitution - Missense
c.1830G>T; p.K610N; 1:223796322-223796322	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1841C>G; p.S614C; 1:223796311-223796311	NS	NS	Substitution - Missense
c.2872G>T; p.G958*; 1:223784219-223784219	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.196A>G; p.K66E; 1:223804240-223804240	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.196A>G; p.K66E; 1:223804240-223804240	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.854C>T; p.P285L; 1:223800795-223800795	skin	malignant_melanoma	Substitution - Missense
c.1472C>T; p.T491M; 1:223798304-223798304	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1567G>A; p.G523S; 1:223796585-223796585	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1380G>T; p.R460R; 1:223798396-223798396	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.896C>T; p.P299L; 1:223800753-223800753	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]