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

Basic Information

Gene ID

6898

Name

TAT

Synonymous

tyrosine aminotransferase;TAT;tyrosine aminotransferase

Definition

L-tyrosine:2-oxoglutarate aminotransferase|tyrosine aminotransferase, cytosolic

Position

16q22.1

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 0.03.

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.73G>T; p.G25C; 16:71576343-71576343

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1037T>G; p.L346R; 16:71570273-71570273

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.43C>T; p.P15S; 16:71576373-71576373

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.545A>G; p.E182G; 16:71572552-71572552

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.43C>T; p.P15S; 16:71576373-71576373

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.116C>A; p.A39D; 16:71576300-71576300

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.682C>A; p.R228S; 16:71572210-71572210

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.682C>A; p.R228S; 16:71572210-71572210

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.538G>A; p.G180R; 16:71572559-71572559

 skinmalignant_melanomaSubstitution - Missense

c.1297C>T; p.R433W; 16:71568212-71568212

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.70G>A; p.V24I; 16:71576346-71576346

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1006G>A; p.G336R; 16:71570304-71570304

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.744G>C; p.E248D; 16:71571621-71571621

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.346C>A; p.L116I; 16:71573601-71573601

 livercarcinomaSubstitution - Missense

c.69C>T; p.N23N; 16:71576347-71576347

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.573G>T; p.E191D; 16:71572319-71572319

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.304G>A; p.D102N; 16:71575958-71575958

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.308C>T; p.S103L; 16:71575954-71575954

 skinmalignant_melanomaSubstitution - Missense

c.308C>T; p.S103L; 16:71575954-71575954

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.868G>C; p.G290R; 16:71570723-71570723

 breastcarcinomaSubstitution - Missense

c.883C>A; p.H295N; 16:71570708-71570708

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.227T>C; p.L76P; 16:71576189-71576189

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1038C>A; p.L346L; 16:71570272-71570272

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1365G>A; p.*455*; 16:71568144-71568144

 skinmalignant_melanomaSubstitution - coding silent

c.1365G>A; p.*455*; 16:71568144-71568144

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.822C>A; p.S274S; 16:71570769-71570769

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1037T>C; p.L346P; 16:71570273-71570273

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.607T>C; p.Y203H; 16:71572285-71572285

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.998G>T; p.R333L; 16:71570312-71570312

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.786A>T; p.P262P; 16:71570805-71570805

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.594G>T; p.L198L; 16:71572298-71572298

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.569C>G; p.P190R; 16:71572323-71572323

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1042-9T>C; p.?; 16:71569946-71569946

 livercarcinomaUnknown

c.1042-9T>C; p.?; 16:71569946-71569946

 livercarcinoma; hepatocellular_carcinomaUnknown

c.1361A>C; p.K454T; 16:71568148-71568148

 livercarcinomaSubstitution - Missense

c.1361A>C; p.K454T; 16:71568148-71568148

 livercarcinomaSubstitution - Missense

c.702G>T; p.L234L; 16:71572190-71572190

 livercarcinomaSubstitution - coding silent

c.767C>T; p.S256L; 16:71570824-71570824

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1122C>T; p.L374L; 16:71569857-71569857

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.1041+10G>A; p.?; 16:71570259-71570259

 livercarcinomaUnknown

c.950T>C; p.L317S; 16:71570360-71570360

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.42C>G; p.L14L; 16:71576374-71576374

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.963C>A; p.T321T; 16:71570347-71570347

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.95G>A; p.G32E; 16:71576321-71576321

 skinmalignant_melanomaSubstitution - Missense

c.95G>A; p.G32E; 16:71576321-71576321

 skinmalignant_melanomaSubstitution - Missense

c.15G>A; p.M5I; 16:71576401-71576401

 skinmalignant_melanomaSubstitution - Missense

c.1149C>T; p.F383F; 16:71568786-71568786

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.623A>C; p.K208T; 16:71572269-71572269

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1350G>A; p.E450E; 16:71568159-71568159

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.110G>T; p.R37I; 16:71576306-71576306

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.964A>G; p.I322V; 16:71570346-71570346

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.340G>A; p.G114S; 16:71575922-71575922

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1268C>T; p.P423L; 16:71568241-71568241

 skinmalignant_melanomaSubstitution - Missense

c.385C>T; p.P129S; 16:71573562-71573562

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.351C>T; p.S117S; 16:71573596-71573596

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1357G>A; p.D453N; 16:71568152-71568152

 skinmalignant_melanomaSubstitution - Missense

c.8C>T; p.P3L; 16:71576408-71576408

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.8C>T; p.P3L; 16:71576408-71576408

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.8C>T; p.P3L; 16:71576408-71576408

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.57C>T; p.D19D; 16:71576359-71576359

 central_nervous_system; braingliomaSubstitution - coding silent

c.57C>T; p.D19D; 16:71576359-71576359

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1180G>A; p.E394K; 16:71568755-71568755

 skinmalignant_melanomaSubstitution - Missense

c.1245C>T; p.F415F; 16:71568264-71568264

 skinmalignant_melanomaSubstitution - coding silent

c.997C>T; p.R333C; 16:71570313-71570313

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.635T>C; p.L212P; 16:71572257-71572257

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.997C>T; p.R333C; 16:71570313-71570313

 skinmalignant_melanomaSubstitution - Missense

c.1299G>T; p.R433R; 16:71568210-71568210

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.163C>A; p.P55T; 16:71576253-71576253

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.352A>T; p.S118C; 16:71573595-71573595

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.10T>C; p.Y4H; 16:71576406-71576406

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.238G>A; p.D80N; 16:71576024-71576024

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.230C>T; p.S77F; 16:71576186-71576186

 skinmalignant_melanomaSubstitution - Missense

c.1096G>A; p.V366I; 16:71569883-71569883

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.853C>T; p.P285S; 16:71570738-71570738

 NSmalignant_melanomaSubstitution - Missense

c.853C>T; p.P285S; 16:71570738-71570738

 NSmalignant_melanomaSubstitution - Missense

c.722G>A; p.C241Y; 16:71571643-71571643

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.58G>A; p.V20M; 16:71576358-71576358

 breastcarcinomaSubstitution - Missense

c.1153G>A; p.E385K; 16:71568782-71568782

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1220C>A; p.A407E; 16:71568715-71568715

 oesophaguscarcinomaSubstitution - Missense

c.1156T>A; p.F386I; 16:71568779-71568779

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274G>A; p.E92K; 16:71575988-71575988

 skinmalignant_melanomaSubstitution - Missense

c.286G>A; p.A96T; 16:71575976-71575976

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1126-1G>T; p.?; 16:71568810-71568810

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaUnknown

c.1126-1G>T; p.?; 16:71568810-71568810

 upper_aerodigestive_tract; mouthcarcinomaUnknown

c.583G>A; p.E195K; 16:71572309-71572309

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.189G>A; p.M63I; 16:71576227-71576227

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.738T>C; p.A246A; 16:71571627-71571627

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.216C>A; p.T72T; 16:71576200-71576200

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1068G>A; p.A356A; 16:71569911-71569911

 prostatecarcinomaSubstitution - coding silent

c.335C>A; p.S112Y; 16:71575927-71575927

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1266C>T; p.V422V; 16:71568243-71568243

 skinmalignant_melanomaSubstitution - coding silent

c.848T>G; p.L283R; 16:71570743-71570743

 skinmalignant_melanomaSubstitution - Missense

c.912G>T; p.E304D; 16:71570679-71570679

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1206C>T; p.V402V; 16:71568729-71568729

 breastcarcinomaSubstitution - coding silent

c.168C>T; p.I56I; 16:71576248-71576248

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.7C>T; p.P3S; 16:71576409-71576409

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.110G>A; p.R37K; 16:71576306-71576306

 skinmalignant_melanomaSubstitution - Missense

c.356G>A; p.R119Q; 16:71573591-71573591

 oesophaguscarcinomaSubstitution - Missense

c.805G>A; p.D269N; 16:71570786-71570786

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.691C>G; p.Q231E; 16:71572201-71572201

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.161A>G; p.N54S; 16:71576255-71576255

 skin; handcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.161A>G; p.N54S; 16:71576255-71576255

 skinmalignant_melanomaSubstitution - Missense

c.145G>A; p.A49T; 16:71576271-71576271

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.868G>T; p.G290C; 16:71570723-71570723

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.917G>A; p.R306Q; 16:71570393-71570393

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1097T>C; p.V366A; 16:71569882-71569882

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.45C>A; p.P15P; 16:71576371-71576371

 livercarcinomaSubstitution - coding silent

c.55G>A; p.D19N; 16:71576361-71576361

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.841C>T; p.R281C; 16:71570750-71570750

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1289C>T; p.A430V; 16:71568220-71568220

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1289C>T; p.A430V; 16:71568220-71568220

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1289C>T; p.A430V; 16:71568220-71568220

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1091G>A; p.R364Q; 16:71569888-71569888

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.9A>G; p.P3P; 16:71576407-71576407

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1239G>A; p.P413P; 16:71568270-71568270

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1090C>T; p.R364W; 16:71569889-71569889

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.872G>A; p.W291*; 16:71570719-71570719

 skinmalignant_melanomaSubstitution - Nonsense

c.8C>A; p.P3Q; 16:71576408-71576408

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.181G>A; p.D61N; 16:71576235-71576235

 skinmalignant_melanomaSubstitution - Missense

c.998G>A; p.R333H; 16:71570312-71570312

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.998G>A; p.R333H; 16:71570312-71570312

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.962C>T; p.T321I; 16:71570348-71570348

 skinmalignant_melanomaSubstitution - Missense

c.857G>C; p.G286A; 16:71570734-71570734

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1027C>G; p.L343V; 16:71570283-71570283

 skinmalignant_melanomaSubstitution - Missense

c.83G>A; p.S28N; 16:71576333-71576333

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.492T>C; p.V164V; 16:71572605-71572605

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.408+2T>G; p.?; 16:71573537-71573537

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.781G>A; p.E261K; 16:71570810-71570810

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.86C>G; p.S29C; 16:71576330-71576330

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.243T>C; p.P81P; 16:71576019-71576019

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.343T>C; p.F115L; 16:71573604-71573604

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.39C>A; p.N13K; 16:71576377-71576377

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.539G>A; p.G180E; 16:71572558-71572558

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.539G>A; p.G180E; 16:71572558-71572558

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.539G>A; p.G180E; 16:71572558-71572558

 skinmalignant_melanomaSubstitution - Missense

c.539G>A; p.G180E; 16:71572558-71572558

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.169C>T; p.R57*; 16:71576247-71576247

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.830G>A; p.G277E; 16:71570761-71570761

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.619G>A; p.E207K; 16:71572273-71572273

 skinmalignant_melanomaSubstitution - Missense

c.1231G>C; p.E411Q; 16:71568278-71568278

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.619G>A; p.E207K; 16:71572273-71572273

 skinmalignant_melanomaSubstitution - Missense

c.1260C>G; p.I420M; 16:71568249-71568249

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1255G>A; p.V419I; 16:71568254-71568254

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1121_1122insACCT; p.M375fs*6; 16:71569857-71569858

 breastcarcinomaInsertion - Frameshift

c.1232A>G; p.E411G; 16:71568277-71568277

 central_nervous_system; braingliomaSubstitution - Missense

c.276A>C; p.E92D; 16:71575986-71575986

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1100G>A; p.R367H; 16:71569879-71569879

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1100G>A; p.R367H; 16:71569879-71569879

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1100G>A; p.R367H; 16:71569879-71569879

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1037T>A; p.L346H; 16:71570273-71570273

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1100G>A; p.R367H; 16:71569879-71569879

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.910G>A; p.E304K; 16:71570681-71570681

 skinmalignant_melanomaSubstitution - Missense

c.912+1G>T; p.?; 16:71570678-71570678

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaUnknown

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