Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

1326

Name

MAP3K8

Synonymous

mitogen-activated protein kinase kinase kinase 8;MAP3K8;mitogen-activated protein kinase kinase kinase 8

Definition

Ewing sarcoma transformant|augmented in rheumatoid arthritis 2|cot (cancer Osaka thyroid) oncogene|proto-oncogene c-Cot|proto-oncogene serine/threoine protein kinase|tumor progression locus 2

Position

10p11.23

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

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

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

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.09.

The copy number variations for various cancers

Top

The copy number variations in 17 major cancer groups: 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; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

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

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1193G>A; p.C398Y; 10:30459421-30459421

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1193G>A; p.C398Y; 10:30459421-30459421

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.437G>T; p.R146L; 10:30447882-30447882

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1060G>A; p.A354T; 10:30459288-30459288

 large_intestine; coloncarcinomaSubstitution - Missense

c.1060G>A; p.A354T; 10:30459288-30459288

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.494C>T; p.A165V; 10:30447939-30447939

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.144C>A; p.T48T; 10:30439082-30439082

 livercarcinomaSubstitution - coding silent

c.212C>A; p.P71Q; 10:30439150-30439150

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.628G>A; p.G210S; 10:30450381-30450381

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.928A>G; p.I310V; 10:30458138-30458138

 haematopoietic_and_lymphoid_tissue; tonsillymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1044T>C; p.P348P; 10:30459272-30459272

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1222C>T; p.R408C; 10:30459450-30459450

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.426T>A; p.D142E; 10:30447871-30447871

 skinmalignant_melanomaSubstitution - Missense

c.751C>A; p.H251N; 10:30450504-30450504

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1378G>A; p.G460R; 10:30460810-30460810

 skinmalignant_melanomaSubstitution - Missense

c.247G>T; p.D83Y; 10:30439185-30439185

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1299G>A; p.E433E; 10:30460731-30460731

 skinmalignant_melanomaSubstitution - coding silent

c.275C>G; p.S92C; 10:30439213-30439213

 breastcarcinomaSubstitution - Missense

c.600T>C; p.G200G; 10:30450353-30450353

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1324C>T; p.R442C; 10:30460756-30460756

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.37G>C; p.E13Q; 10:30438975-30438975

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1170G>A; p.P390P; 10:30459398-30459398

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1170G>A; p.P390P; 10:30459398-30459398

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1170G>A; p.P390P; 10:30459398-30459398

 prostatecarcinomaSubstitution - coding silent

c.1127G>T; p.R376L; 10:30459355-30459355

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.570C>T; p.I190I; 10:30450323-30450323

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1280C>T; p.S427L; 10:30460712-30460712

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.424G>T; p.D142Y; 10:30447869-30447869

 skinmalignant_melanomaSubstitution - Missense

c.97C>A; p.L33I; 10:30439035-30439035

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.127G>C; p.E43Q; 10:30439065-30439065

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1348G>A; p.A450T; 10:30460780-30460780

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.966G>A; p.T322T; 10:30458176-30458176

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1346G>C; p.G449A; 10:30460778-30460778

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.234T>C; p.Y78Y; 10:30439172-30439172

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.766+1G>A; p.?; 10:30450520-30450520

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1284C>T; p.C428C; 10:30460716-30460716

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.234T>C; p.Y78Y; 10:30439172-30439172

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.420delT; p.S141fs*18; 10:30447865-30447865

 skinmalignant_melanomaDeletion - Frameshift

c.905G>T; p.R302M; 10:30458115-30458115

 breastcarcinomaSubstitution - Missense

c.483G>T; p.K161N; 10:30447928-30447928

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1092G>C; p.L364L; 10:30459320-30459320

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.305G>A; p.R102Q; 10:30439243-30439243

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.757G>T; p.D253Y; 10:30450510-30450510

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1269T>C; p.I423I; 10:30459497-30459497

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1046C>T; p.P349L; 10:30459274-30459274

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.941G>C; p.G314A; 10:30458151-30458151

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1190G>A; p.R397H; 10:30459418-30459418

 pleurapulmonary_blastomaSubstitution - Missense

c.91G>A; p.E31K; 10:30439029-30439029

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.168C>T; p.N56N; 10:30439106-30439106

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.558G>A; p.R186R; 10:30450311-30450311

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.859C>T; p.L287F; 10:30451730-30451730

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.162T>C; p.N54N; 10:30439100-30439100

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.897C>T; p.I299I; 10:30458107-30458107

 skinmalignant_melanomaSubstitution - coding silent

c.925G>C; p.D309H; 10:30458135-30458135

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1063G>C; p.D355H; 10:30459291-30459291

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.886C>T; p.P296S; 10:30458096-30458096

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.886C>T; p.P296S; 10:30458096-30458096

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.886C>T; p.P296S; 10:30458096-30458096

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.886C>T; p.P296S; 10:30458096-30458096

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.886C>T; p.P296S; 10:30458096-30458096

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.886C>T; p.P296S; 10:30458096-30458096

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.886C>T; p.P296S; 10:30458096-30458096

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.886C>T; p.P296S; 10:30458096-30458096

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.886C>T; p.P296S; 10:30458096-30458096

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.59A>G; p.H20R; 10:30438997-30438997

 oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1164G>C; p.L388L; 10:30459392-30459392

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1281G>A; p.S427S; 10:30460713-30460713

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1296C>T; p.T432T; 10:30460728-30460728

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1159G>A; p.A387T; 10:30459387-30459387

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1382C>T; p.P461L; 10:30460814-30460814

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1382C>T; p.P461L; 10:30460814-30460814

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.497G>T; p.C166F; 10:30447942-30447942

 breastcarcinomaSubstitution - Missense

c.1382C>T; p.P461L; 10:30460814-30460814

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.585C>T; p.G195G; 10:30450338-30450338

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.374C>T; p.S125F; 10:30447819-30447819

 livercarcinomaSubstitution - Missense

c.826C>T; p.Q276*; 10:30451697-30451697

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.687A>G; p.E229E; 10:30450440-30450440

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1268T>G; p.I423S; 10:30459496-30459496

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.440_441insG; p.A148fs*20; 10:30447885-30447886

 lungcarcinoma; non_small_cell_carcinomaInsertion - Frameshift

c.440_441insG; p.A148fs*20; 10:30447885-30447886

 lungcarcinoma; adenocarcinomaInsertion - Frameshift

c.948G>A; p.T316T; 10:30458158-30458158

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.821G>T; p.S274I; 10:30451692-30451692

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.706C>T; p.H236Y; 10:30450459-30450459

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1098A>G; p.E366E; 10:30459326-30459326

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.947C>T; p.T316M; 10:30458157-30458157

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1325G>A; p.R442H; 10:30460757-30460757

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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