Entrez Gene

Basic Information
Gene ID	5079
Name	PAX5
Synonymous	paired box 5;PAX5;paired box 5
Definition	B-cell lineage specific activator\|paired box homeotic gene 5\|paired box protein Pax-5\|paired domain gene 5\|transcription factor PAX 5
Position	9p13
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 0.26.

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.270C>A; p.V90V; 9:37015137-37015137	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1063A>C; p.N355H; 9:36846879-36846879	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.416T>C; p.I139T; 9:37006532-37006532	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1-?_46del; p.?; 9:37033986-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.924G>T; p.A308A; 9:36882092-36882092	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.110T>C; p.V37A; 9:37020738-37020738	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.826G>A; p.D276N; 9:36923439-36923439	skin; mucosal	malignant_melanoma	Substitution - Missense
c.869G>A; p.G290E; 9:36923396-36923396	skin	malignant_melanoma	Substitution - Missense
c.106G>T; p.V36L; 9:37020742-37020742	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.158A>T; p.D53V; 9:37020690-37020690	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.395T>G; p.V132G; 9:37015012-37015012	skin	malignant_melanoma	Substitution - Missense
c.102G>A; p.P34P; 9:37020746-37020746	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1153G>A; p.A385T; 9:36840583-36840583	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.101C>A; p.P34Q; 9:37020747-37020747	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1138G>A; p.A380T; 9:36840598-36840598	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.521C>T; p.S174L; 9:37002731-37002731	breast	carcinoma	Substitution - Missense
c.190delT; p.C64fs*19; 9:37020658-37020658	breast	carcinoma	Deletion - Frameshift
c.910+2T>C; p.?; 9:36923353-36923353	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.945C>T; p.Y315Y; 9:36882071-36882071	skin	malignant_melanoma	Substitution - coding silent
c.1076G>A; p.R359K; 9:36846866-36846866	skin	malignant_melanoma	Substitution - Missense
c.224C>G; p.T75R; 9:37015183-37015183	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.338A>T; p.E113V; 9:37015069-37015069	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.674G>A; p.R225Q; 9:36966655-36966655	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.939C>T; p.P313P; 9:36882077-36882077	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.714C>T; p.D238D; 9:36966615-36966615	skin	malignant_melanoma	Substitution - coding silent
c.76G>T; p.V26F; 9:37020772-37020772	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.76G>T; p.V26F; 9:37020772-37020772	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.76G>T; p.V26F; 9:37020772-37020772	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.910G>T; p.G304C; 9:36923355-36923355	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.900C>T; p.P300P; 9:36923365-36923365	pancreas	carcinoma	Substitution - coding silent
c.290A>G; p.E97G; 9:37015117-37015117	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.781-?_1176+?del; p.?; 9:36840560-36923484	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.781-?_1176+?del; p.?; 9:36840560-36923484	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.781-?_1176+?del; p.?; 9:36840560-36923484	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.867C>T; p.I289I; 9:36923398-36923398	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.781-?_1099+?del; p.?; 9:36846843-36923484	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.771G>C; p.K257N; 9:36966558-36966558	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.577_578ins15; p.D193>GGTRAN; 9:37002674-37002675	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Complex - insertion inframe
c.930G>A; p.T310T; 9:36882086-36882086	breast	carcinoma	Substitution - coding silent
c.605-?_1012+?del; p.?; 9:36882004-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.605-?_1012+?del; p.?; 9:36882004-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.605-?_1012+?del; p.?; 9:36882004-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.794C>T; p.S265L; 9:36923471-36923471	breast	carcinoma	Substitution - Missense
c.46G>C; p.G16R; 9:37033986-37033986	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.955_956insC; p.V319fs*22; 9:36882060-36882061	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.34A>G; p.T12A; 9:37033998-37033998	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.955_956insC; p.V319fs*22; 9:36882060-36882061	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.605-?_910+?del; p.?; 9:36923355-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.605-?_910+?del; p.?; 9:36923355-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.899C>A; p.P300H; 9:36923366-36923366	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.92G>A; p.R31Q; 9:37020756-37020756	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.213-?_1176+?del; p.?; 9:37014231-37015194	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.175C>G; p.R59G; 9:37020673-37020673	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1093C>T; p.L365L; 9:36846849-36846849	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1A>G; p.M1V; 9:37034031-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.986C>T; p.A329V; 9:36882030-36882030	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1013-20_1014del22; p.?; 9:36846928-36846949	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.1110C>T; p.Y370Y; 9:36840626-36840626	thyroid	other; neoplasm	Substitution - coding silent
c.1110C>T; p.Y370Y; 9:36840626-36840626	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.950C>A; p.P317Q; 9:36882066-36882066	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1086C>A; p.N362K; 9:36846856-36846856	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.87T>A; p.N29K; 9:37020761-37020761	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1013-?_1099+?del; p.?; 9:36846843-36846929	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.814G>T; p.G272C; 9:36923451-36923451	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1037A>G; p.Y346C; 9:36846905-36846905	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1063A>T; p.N355Y; 9:36846879-36846879	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.605-?_780+?del; p.?; 9:36966549-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.605-?_780+?del; p.?; 9:36966549-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.365G>A; p.R122Q; 9:37015042-37015042	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1088C>T; p.P363L; 9:36846854-36846854	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.47-?_910+?del; p.?; 9:36923355-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_410+?del; p.?; 9:37014997-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.270C>T; p.V90V; 9:37015137-37015137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.47-?_410+?del; p.?; 9:37014997-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.396C>A; p.V132V; 9:37015011-37015011	NS	NS	Substitution - coding silent
c.590G>A; p.R197H; 9:37002662-37002662	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.902T>C; p.I301T; 9:36923363-36923363	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.590G>A; p.R197H; 9:37002662-37002662	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.76delG; p.V26fs*3; 9:37020772-37020772	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.936_937CC>TT; p.L312>?; 9:36882079-36882080	skin; extremity	malignant_melanoma	Complex
c.963_964insC; p.A322fs*19; 9:36882052-36882053	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.963_964insC; p.A322fs*19; 9:36882052-36882053	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Insertion - Frameshift
c.149G>T; p.R50M; 9:37020699-37020699	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.963_964insC; p.A322fs*19; 9:36882052-36882053	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Insertion - Frameshift
c.963_964insC; p.A322fs*19; 9:36882052-36882053	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.963_964insC; p.A322fs*19; 9:36882052-36882053	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Insertion - Frameshift
c.47-?_1012+?del; p.?; 9:36882004-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_1012+?del; p.?; 9:36882004-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_1012+?del; p.?; 9:36882004-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_1012+?del; p.?; 9:36882004-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_1012+?del; p.?; 9:36882004-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_1012+?del; p.?; 9:36882004-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1-?_780+?del; p.?; 9:36966549-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_1012+?del; p.?; 9:36882004-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.645G>C; p.P215P; 9:36966684-36966684	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.55G>T; p.G19*; 9:37020793-37020793	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.600_601insTTGGGCGTCG; p.E201fs*45; 9:37002651-37002652	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.47-?_1176+?del; p.?; 9:36840560-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1059G>A; p.S353S; 9:36846883-36846883	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.410+2T>G; p.?; 9:37014995-37014995	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.215A>G; p.Y72C; 9:37015192-37015192	breast	carcinoma	Substitution - Missense
c.471C>G; p.S157R; 9:37006477-37006477	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.679G>A; p.D227N; 9:36966650-36966650	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1-?_910+?del; p.?; 9:36966549-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1-?_910+?del; p.?; 9:36966549-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1-?_910+?del; p.?; 9:36966549-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.940G>T; p.G314W; 9:36882076-36882076	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.68T>C; p.L23P; 9:37020780-37020780	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.997delA; p.T333fs*>59; 9:36882019-36882019	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Deletion - Frameshift
c.54A>G; p.G18G; 9:37020794-37020794	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.438A>C; p.P146P; 9:37006510-37006510	breast	carcinoma	Substitution - coding silent
c.559A>G; p.I187V; 9:37002693-37002693	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1013-1G>A; p.?; 9:36846930-36846930	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.870G>T; p.G290G; 9:36923395-36923395	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.490G>A; p.V164M; 9:37002762-37002762	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.577G>A; p.D193N; 9:37002675-37002675	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.373_374insTG; p.D125fs*35; 9:37015033-37015034	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.631_631G>TGTCACTAC; p.G211fs*70; 9:36966698-36966698	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Complex - frameshift
c.240T>C; p.P80P; 9:37015167-37015167	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.240T>C; p.P80P; 9:37015167-37015167	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.469A>G; p.S157G; 9:37006479-37006479	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1-?_410+?del; p.?; 9:37014997-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.811G>A; p.A271T; 9:36923454-36923454	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.952C>A; p.H318N; 9:36882064-36882064	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.47-?_475+?del; p.?; 9:37006473-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1057T>A; p.S353T; 9:36846885-36846885	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1-?_604+?del; p.?; 9:37002648-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1-?_1012+?del; p.?; 9:36882004-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.730C>T; p.Q244*; 9:36966599-36966599	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.605-?_1176+?del; p.?; 9:36840560-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.605-?_1176+?del; p.?; 9:36840560-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.605-?_1176+?del; p.?; 9:36840560-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.377_388>GGG; p.N126_P130>RA; 9:37015019-37015030	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Complex - deletion inframe
c.47-?_604+?del; p.?; 9:37002648-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_604+?del; p.?; 9:37002648-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_604+?del; p.?; 9:37002648-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_604+?del; p.?; 9:37002648-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_604+?del; p.?; 9:37002648-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.411-?_604+?del; p.?; 9:37002648-37006537	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_604+?del; p.?; 9:37002648-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.76_77insG; p.V26fs*49; 9:37020771-37020772	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Insertion - Frameshift
c.411-?_604+?del; p.?; 9:37002648-37006537	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.412_413insG; p.I138fs*105; 9:37006535-37006536	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Insertion - Frameshift
c.534G>A; p.S178S; 9:37002718-37002718	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1080C>T; p.F360F; 9:36846862-36846862	skin	malignant_melanoma	Substitution - coding silent
c.70G>C; p.G24R; 9:37020778-37020778	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.841C>G; p.L281V; 9:36923424-36923424	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.70G>C; p.G24R; 9:37020778-37020778	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.70G>C; p.G24R; 9:37020778-37020778	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.959C>T; p.P320L; 9:36882057-36882057	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.963delC; p.A322fs*11; 9:36882053-36882053	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.963delC; p.A322fs*11; 9:36882053-36882053	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.85A>C; p.N29H; 9:37020763-37020763	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.928A>G; p.T310A; 9:36882088-36882088	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.677G>A; p.G226E; 9:36966652-36966652	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.12G>T; p.E4D; 9:37034020-37034020	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.653A>G; p.D218G; 9:36966676-36966676	skin	malignant_melanoma	Substitution - Missense
c.88G>T; p.G30*; 9:37020760-37020760	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.887C>T; p.P296L; 9:36923378-36923378	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.19T>C; p.Y7H; 9:37034013-37034013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1089G>A; p.P363P; 9:36846853-36846853	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.673C>T; p.R225W; 9:36966656-36966656	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.673C>T; p.R225W; 9:36966656-36966656	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1038C>T; p.Y346Y; 9:36846904-36846904	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1036T>C; p.Y346H; 9:36846906-36846906	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.55G>A; p.G19R; 9:37020793-37020793	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.385G>A; p.V129M; 9:37015022-37015022	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.77T>G; p.V26G; 9:37020771-37020771	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.77T>G; p.V26G; 9:37020771-37020771	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.911-?_1099+?del; p.?; 9:36846843-36882105	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.77T>G; p.V26G; 9:37020771-37020771	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.77T>G; p.V26G; 9:37020771-37020771	oesophagus	carcinoma	Substitution - Missense
c.936C>T; p.L312L; 9:36882080-36882080	skin	malignant_melanoma	Substitution - coding silent
c.77T>G; p.V26G; 9:37020771-37020771	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.77T>G; p.V26G; 9:37020771-37020771	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1019_1020insCCCGGGGG; p.E340fs*56; 9:36846922-36846923	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Insertion - Frameshift
c.77T>G; p.V26G; 9:37020771-37020771	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.77T>G; p.V26G; 9:37020771-37020771	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.77T>G; p.V26G; 9:37020771-37020771	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.601_602insGAAGGGGG; p.E201fs*80; 9:37002650-37002651	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.815G>A; p.G272D; 9:36923450-36923450	breast	carcinoma	Substitution - Missense
c.669G>T; p.Q223H; 9:36966660-36966660	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.476-?_1099+?del; p.?; 9:36846843-37002776	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.911-?_1012+?del; p.?; 9:36882004-36882105	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.350G>T; p.R117L; 9:37015057-37015057	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.291A>T; p.E97D; 9:37015116-37015116	skin	malignant_melanoma	Substitution - Missense
c.1012G>T; p.G338W; 9:36882004-36882004	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.91C>T; p.R31W; 9:37020757-37020757	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.451G>A; p.V151I; 9:37006497-37006497	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.91C>T; p.R31W; 9:37020757-37020757	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1006_1007insCTTATGGT; p.V336fs*>59; 9:36882009-36882010	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.1-?_780+?del; p.?; 9:36966549-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1-?_780+?del; p.?; 9:36966549-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.407A>G; p.N136S; 9:37015000-37015000	liver	carcinoma	Substitution - Missense
c.627G>A; p.P209P; 9:36966702-36966702	lung	carcinoma; adenocarcinoma	Substitution - coding silent

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

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]