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

Basic Information

Gene ID

1959

Name

EGR2

Synonymous

early growth response 2;EGR2;early growth response 2

Definition

E3 SUMO-protein ligase EGR2|KROX-20, Drosophila, homolog (early growth response-2)|early growth response protein 2|zinc finger protein Krox-20

Position

10q21.1

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 0.08.

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.88G>A; p.D30N; 10:62815942-62815942

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.911_912insAGC; p.A309_Y310insA; 10:62813726-62813727

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - In frame

c.1169G>C; p.R390P; 10:62813469-62813469

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.60G>A; p.Q20Q; 10:62815970-62815970

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1129C>T; p.R377C; 10:62813509-62813509

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.485A>C; p.D162A; 10:62814153-62814153

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1245C>T; p.R415R; 10:62813393-62813393

 skinmalignant_melanomaSubstitution - coding silent

c.828delC; p.S277fs*4; 10:62813810-62813810

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.828delC; p.S277fs*4; 10:62813810-62813810

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.93C>T; p.L31L; 10:62815937-62815937

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.501G>A; p.P167P; 10:62814137-62814137

 pancreascarcinomaSubstitution - coding silent

c.93C>T; p.L31L; 10:62815937-62815937

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.911_912insAGCCGC; p.A309_Y310insAA; 10:62813726-62813727

 large_intestinecarcinoma; adenocarcinomaInsertion - In frame

c.909A>C; p.A303A; 10:62813729-62813729

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.909A>C; p.A303A; 10:62813729-62813729

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.744C>G; p.P248P; 10:62813894-62813894

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.867C>T; p.S289S; 10:62813771-62813771

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.833C>T; p.A278V; 10:62813805-62813805

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.42C>T; p.L14L; 10:62815988-62815988

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.941A>C; p.H314P; 10:62813697-62813697

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.692C>T; p.P231L; 10:62813946-62813946

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.137G>T; p.G46V; 10:62815893-62815893

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.97G>A; p.A33T; 10:62815933-62815933

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.519_520insCCTCCT; p.P173_Y174insPP; 10:62814118-62814119

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - In frame

c.506C>T; p.P169L; 10:62814132-62814132

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.572C>A; p.A191E; 10:62814066-62814066

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.322T>C; p.Y108H; 10:62814316-62814316

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1213C>T; p.R405*; 10:62813425-62813425

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.141C>G; p.P47P; 10:62815889-62815889

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1214G>A; p.R405Q; 10:62813424-62813424

 breastcarcinomaSubstitution - Missense

c.266C>T; p.T89I; 10:62814372-62814372

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.291C>A; p.S97S; 10:62814347-62814347

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.92T>C; p.L31P; 10:62815938-62815938

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.824delG; p.G275fs*6; 10:62813814-62813814

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.824delG; p.G275fs*6; 10:62813814-62813814

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.824delG; p.G275fs*6; 10:62813814-62813814

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.824delG; p.G275fs*6; 10:62813814-62813814

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.657C>G; p.L219L; 10:62813981-62813981

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.616C>T; p.P206S; 10:62814022-62814022

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.95C>T; p.A32V; 10:62815935-62815935

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.20T>C; p.V7A; 10:62816010-62816010

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1398C>T; p.L466L; 10:62813240-62813240

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.80C>T; p.P27L; 10:62815950-62815950

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1067A>G; p.E356G; 10:62813571-62813571

 skinmalignant_melanomaSubstitution - Missense

c.535G>A; p.G179R; 10:62814103-62814103

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.214G>T; p.D72Y; 10:62814424-62814424

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.851G>T; p.G284V; 10:62813787-62813787

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1086A>C; p.R362R; 10:62813552-62813552

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.587C>G; p.T196S; 10:62814051-62814051

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.299C>T; p.P100L; 10:62814339-62814339

 haematopoietic_and_lymphoid_tissue; spleenlymphoid_neoplasm; marginal_zone_lymphomaSubstitution - Missense

c.1253A>C; p.K418T; 10:62813385-62813385

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.925_927delGCC; p.A309delA; 10:62813711-62813713

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.925_927delGCC; p.A309delA; 10:62813711-62813713

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - In frame

c.925_927delGCC; p.A309delA; 10:62813711-62813713

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.925_927delGCC; p.A309delA; 10:62813711-62813713

 NSmalignant_melanomaDeletion - In frame

c.675C>T; p.D225D; 10:62813963-62813963

 skinmalignant_melanomaSubstitution - coding silent

c.1130G>A; p.R377H; 10:62813508-62813508

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1130G>A; p.R377H; 10:62813508-62813508

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.106G>T; p.V36L; 10:62815924-62815924

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1194C>T; p.F398F; 10:62813444-62813444

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.971G>A; p.R324H; 10:62813667-62813667

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1033G>C; p.E345Q; 10:62813605-62813605

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1119G>A; p.R373R; 10:62813519-62813519

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1180G>A; p.G394S; 10:62813458-62813458

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.205A>T; p.R69W; 10:62814433-62814433

 ovaryother; neoplasmSubstitution - Missense

c.1048C>T; p.R350W; 10:62813590-62813590

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.421C>T; p.P141S; 10:62814217-62814217

 skinmalignant_melanomaSubstitution - Missense

c.1058G>A; p.R353H; 10:62813580-62813580

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.561G>A; p.A187A; 10:62814077-62814077

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.763A>C; p.T255P; 10:62813875-62813875

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1395G>A; p.P465P; 10:62813243-62813243

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1135T>G; p.F379V; 10:62813503-62813503

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1118G>A; p.R373Q; 10:62813520-62813520

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1118G>A; p.R373Q; 10:62813520-62813520

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.772G>C; p.V258L; 10:62813866-62813866

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.730C>T; p.P244S; 10:62813908-62813908

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.877C>A; p.R293R; 10:62813761-62813761

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1305G>A; p.V435V; 10:62813333-62813333

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.925G>A; p.A309T; 10:62813713-62813713

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.133G>C; p.G45R; 10:62815897-62815897

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.754C>A; p.P252T; 10:62813884-62813884

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.278T>C; p.M93T; 10:62814360-62814360

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1066G>A; p.E356K; 10:62813572-62813572

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1066G>A; p.E356K; 10:62813572-62813572

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.443C>T; p.P148L; 10:62814195-62814195

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.120C>A; p.P40P; 10:62815910-62815910

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.970C>T; p.R324C; 10:62813668-62813668

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.96C>T; p.A32A; 10:62815934-62815934

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.96C>T; p.A32A; 10:62815934-62815934

 bonechondrosarcomaSubstitution - coding silent

c.896C>G; p.S299*; 10:62813742-62813742

 pancreascarcinomaSubstitution - Nonsense

c.769C>T; p.R257W; 10:62813869-62813869

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.478G>A; p.D160N; 10:62814160-62814160

 skinmalignant_melanomaSubstitution - Missense

c.769C>T; p.R257W; 10:62813869-62813869

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.320G>A; p.C107Y; 10:62814318-62814318

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.332G>C; p.G111A; 10:62814306-62814306

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1150C>A; p.H384N; 10:62813488-62813488

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1150C>A; p.H384N; 10:62813488-62813488

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1338C>T; p.G446G; 10:62813300-62813300

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1150C>A; p.H384N; 10:62813488-62813488

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.332G>C; p.G111A; 10:62814306-62814306

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.30C>T; p.I10I; 10:62816000-62816000

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1150C>A; p.H384N; 10:62813488-62813488

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.953G>A; p.R318Q; 10:62813685-62813685

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1338C>T; p.G446G; 10:62813300-62813300

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.912C>A; p.A304A; 10:62813726-62813726

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.912C>A; p.A304A; 10:62813726-62813726

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.912C>A; p.A304A; 10:62813726-62813726

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.912C>A; p.A304A; 10:62813726-62813726

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.912C>A; p.A304A; 10:62813726-62813726

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.912C>A; p.A304A; 10:62813726-62813726

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.912C>A; p.A304A; 10:62813726-62813726

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.912C>A; p.A304A; 10:62813726-62813726

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1051T>C; p.F351L; 10:62813587-62813587

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.135A>G; p.G45G; 10:62815895-62815895

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1337delG; p.G446fs*>31; 10:62813301-62813301

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1204T>C; p.Y402H; 10:62813434-62813434

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1421G>T; p.R474L; 10:62813217-62813217

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1195G>A; p.A399T; 10:62813443-62813443

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1195G>A; p.A399T; 10:62813443-62813443

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.244G>A; p.V82I; 10:62814394-62814394

 prostatecarcinomaSubstitution - Missense

c.689T>G; p.F230C; 10:62813949-62813949

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.517C>T; p.P173S; 10:62814121-62814121

 skinmalignant_melanomaSubstitution - Missense

c.479A>G; p.D160G; 10:62814159-62814159

 ovaryother; neoplasmSubstitution - Missense

c.479A>G; p.D160G; 10:62814159-62814159

 ovaryother; neoplasmSubstitution - Missense

c.1105C>T; p.P369S; 10:62813533-62813533

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.479A>G; p.D160G; 10:62814159-62814159

 ovaryother; neoplasmSubstitution - Missense

c.778C>T; p.P260S; 10:62813860-62813860

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1023G>A; p.P341P; 10:62813615-62813615

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.559G>A; p.A187T; 10:62814079-62814079

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1234G>C; p.E412Q; 10:62813404-62813404

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.514C>T; p.P172S; 10:62814124-62814124

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.127G>C; p.E43Q; 10:62815903-62815903

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.909_911delAGC; p.A309delA; 10:62813727-62813729

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1179C>T; p.T393T; 10:62813459-62813459

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.960T>C; p.I320I; 10:62813678-62813678

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.10G>A; p.A4T; 10:62816020-62816020

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.963G>A; p.L321L; 10:62813675-62813675

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.10G>A; p.A4T; 10:62816020-62816020

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1286G>T; p.S429I; 10:62813352-62813352

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1045C>T; p.R349W; 10:62813593-62813593

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.74T>C; p.I25T; 10:62815956-62815956

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.457A>G; p.T153A; 10:62814181-62814181

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.560C>T; p.A187V; 10:62814078-62814078

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1273G>A; p.E425K; 10:62813365-62813365

 breastcarcinomaSubstitution - Missense

c.447G>A; p.L149L; 10:62814191-62814191

 prostateadenomaSubstitution - coding silent

c.744C>A; p.P248P; 10:62813894-62813894

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.237T>C; p.F79F; 10:62814401-62814401

 livercarcinomaSubstitution - coding silent

c.1033G>A; p.E345K; 10:62813605-62813605

 skinmalignant_melanomaSubstitution - Missense

c.289T>G; p.S97A; 10:62814349-62814349

 prostatecarcinomaSubstitution - Missense

c.1244G>A; p.R415H; 10:62813394-62813394

 prostatecarcinomaSubstitution - Missense

c.405C>T; p.S135S; 10:62814233-62814233

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1034A>G; p.E345G; 10:62813604-62813604

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.134G>A; p.G45E; 10:62815896-62815896

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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