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

Basic Information

Gene ID

1894

Name

ECT2

Synonymous

epithelial cell transforming 2;ECT2;epithelial cell transforming 2

Definition

epithelial cell transforming sequence 2 oncogene|epithelial cell-transforming sequence 2 oncogene|protein ECT2

Position

3q26.1-q26.2

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 0.06.

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.2484C>T; p.H828H; 3:172816759-172816759

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1646C>G; p.A549G; 3:172784717-172784717

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.715C>T; p.P239S; 3:172762465-172762465

 skinmalignant_melanomaSubstitution - Missense

c.553C>G; p.H185D; 3:172760225-172760225

 breastcarcinomaSubstitution - Missense

c.2095A>C; p.I699L; 3:172805812-172805812

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2397delA; p.K801fs*25; 3:172815693-172815693

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2519A>C; p.D840A; 3:172816794-172816794

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1898A>C; p.N633T; 3:172802865-172802865

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.532G>T; p.D178Y; 3:172760204-172760204

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.532G>T; p.D178Y; 3:172760204-172760204

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1238C>T; p.T413I; 3:172769046-172769046

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2248G>T; p.E750*; 3:172807865-172807865

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2406T>C; p.T802T; 3:172815702-172815702

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2406T>C; p.T802T; 3:172815702-172815702

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2028G>A; p.R676R; 3:172805745-172805745

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2462G>A; p.R821Q; 3:172816737-172816737

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2028G>A; p.R676R; 3:172805745-172805745

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2028G>A; p.R676R; 3:172805745-172805745

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.785C>A; p.T262N; 3:172762535-172762535

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.852G>C; p.E284D; 3:172762746-172762746

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1630C>T; p.L544F; 3:172783904-172783904

 central_nervous_system; braingliomaSubstitution - Missense

c.2601C>T; p.F867F; 3:172820186-172820186

 skinmalignant_melanomaSubstitution - coding silent

c.1931G>A; p.R644Q; 3:172802898-172802898

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1946C>T; p.S649F; 3:172802913-172802913

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2407T>C; p.S803P; 3:172815703-172815703

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1040G>A; p.R347H; 3:172764342-172764342

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1708C>T; p.P570S; 3:172784779-172784779

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastomaSubstitution - Missense

c.1708C>T; p.P570S; 3:172784779-172784779

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.2537G>A; p.R846H; 3:172816812-172816812

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1962C>G; p.P654P; 3:172802929-172802929

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.71C>T; p.S24F; 3:172754601-172754601

 skinmalignant_melanomaSubstitution - Missense

c.811C>T; p.P271S; 3:172762705-172762705

 skin; trunkmalignant_melanoma; nodularSubstitution - Missense

c.1137C>T; p.S379S; 3:172764439-172764439

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1203C>T; p.T401T; 3:172769011-172769011

 skinmalignant_melanomaSubstitution - coding silent

c.2622G>A; p.T874T; 3:172820207-172820207

 breastcarcinomaSubstitution - coding silent

c.1060G>C; p.E354Q; 3:172764362-172764362

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1369C>T; p.R457C; 3:172773936-172773936

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1422C>A; p.I474I; 3:172773989-172773989

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.210+2T>C; p.?; 3:172755376-172755376

 stomachcarcinoma; adenocarcinomaUnknown

c.884C>A; p.S295*; 3:172762778-172762778

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.1574T>G; p.M525R; 3:172783848-172783848

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1574T>G; p.M525R; 3:172783848-172783848

 livercarcinomaSubstitution - Missense

c.1751C>T; p.A584V; 3:172786511-172786511

 skinmalignant_melanomaSubstitution - Missense

c.320T>C; p.F107S; 3:172757092-172757092

 livercarcinomaSubstitution - Missense

c.2449A>G; p.K817E; 3:172816724-172816724

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.806A>G; p.Y269C; 3:172762700-172762700

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2586C>T; p.V862V; 3:172820171-172820171

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1847C>G; p.A616G; 3:172802648-172802648

 skinmalignant_melanomaSubstitution - Missense

c.1449G>T; p.K483N; 3:172774016-172774016

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.383A>G; p.Q128R; 3:172757155-172757155

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.958A>T; p.M320L; 3:172762955-172762955

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.958A>T; p.M320L; 3:172762955-172762955

 large_intestine; coloncarcinomaSubstitution - Missense

c.922G>T; p.G308*; 3:172762919-172762919

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.812C>T; p.P271L; 3:172762706-172762706

 prostatecarcinomaSubstitution - Missense

c.812C>T; p.P271L; 3:172762706-172762706

 skin; trunkmalignant_melanoma; nodularSubstitution - Missense

c.2528T>C; p.V843A; 3:172816803-172816803

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1316T>C; p.I439T; 3:172769124-172769124

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1110C>T; p.P370P; 3:172764412-172764412

 skinmalignant_melanomaSubstitution - coding silent

c.1916G>A; p.R639Q; 3:172802883-172802883

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.821A>T; p.D274V; 3:172762715-172762715

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1815-2A>G; p.?; 3:172802614-172802614

 breastcarcinomaUnknown

c.1179G>A; p.E393E; 3:172764481-172764481

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.950G>A; p.G317E; 3:172762947-172762947

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.950G>A; p.G317E; 3:172762947-172762947

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.2272C>T; p.R758*; 3:172807889-172807889

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.888G>T; p.K296N; 3:172762782-172762782

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.888G>T; p.K296N; 3:172762782-172762782

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1423_1424CC>TT; p.P475L; 3:172773990-172773991

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1347A>C; p.V449V; 3:172773914-172773914

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1199-7G>C; p.?; 3:172769000-172769000

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.803A>C; p.K268T; 3:172762697-172762697

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2404A>C; p.T802P; 3:172815700-172815700

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.274G>C; p.E92Q; 3:172757046-172757046

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2512A>G; p.S838G; 3:172816787-172816787

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2633C>T; p.S878F; 3:172820218-172820218

 pancreascarcinomaSubstitution - Missense

c.1053T>G; p.R351R; 3:172764355-172764355

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.656G>A; p.R219Q; 3:172761674-172761674

 pancreascarcinomaSubstitution - Missense

c.2569C>T; p.P857S; 3:172820154-172820154

 skin; neckmalignant_melanomaSubstitution - Missense

c.2569C>T; p.P857S; 3:172820154-172820154

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1550C>A; p.P517H; 3:172783824-172783824

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.99C>G; p.N33K; 3:172754629-172754629

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2408C>T; p.S803L; 3:172815704-172815704

 skinmalignant_melanomaSubstitution - Missense

c.347G>C; p.R116T; 3:172757119-172757119

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.56C>G; p.S19C; 3:172754586-172754586

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.865G>A; p.D289N; 3:172762759-172762759

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.943C>T; p.R315*; 3:172762940-172762940

 bone; femurchondrosarcomaSubstitution - Nonsense

c.1894G>A; p.A632T; 3:172802861-172802861

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1217C>G; p.T406S; 3:172769025-172769025

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.2465G>T; p.R822M; 3:172816740-172816740

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1111C>T; p.R371C; 3:172764413-172764413

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1763C>T; p.P588L; 3:172786523-172786523

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2404A>G; p.T802A; 3:172815700-172815700

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2404A>G; p.T802A; 3:172815700-172815700

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2404A>G; p.T802A; 3:172815700-172815700

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.527G>T; p.R176L; 3:172760199-172760199

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2314C>T; p.L772F; 3:172815610-172815610

 skinmalignant_melanomaSubstitution - Missense

c.2641C>T; p.H881Y; 3:172820226-172820226

 skinmalignant_melanomaSubstitution - Missense

c.95A>T; p.E32V; 3:172754625-172754625

 central_nervous_system; braingliomaSubstitution - Missense

c.1142C>T; p.S381F; 3:172764444-172764444

 breastcarcinomaSubstitution - Missense

c.621G>A; p.M207I; 3:172761639-172761639

 skinmalignant_melanomaSubstitution - Missense

c.1989C>G; p.L663L; 3:172802956-172802956

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2400A>C; p.K800N; 3:172815696-172815696

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1989C>G; p.L663L; 3:172802956-172802956

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.134A>G; p.E45G; 3:172755298-172755298

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.134A>G; p.E45G; 3:172755298-172755298

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1762C>T; p.P588S; 3:172786522-172786522

 skinmalignant_melanomaSubstitution - Missense

c.1762C>T; p.P588S; 3:172786522-172786522

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.763A>G; p.K255E; 3:172762513-172762513

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2482C>A; p.H828N; 3:172816757-172816757

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1539delA; p.T515fs*6; 3:172783813-172783813

 skinmalignant_melanomaDeletion - Frameshift

c.2398A>C; p.K800Q; 3:172815694-172815694

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2471T>C; p.L824P; 3:172816746-172816746

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.842T>C; p.V281A; 3:172762736-172762736

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.123T>A; p.Y41*; 3:172754653-172754653

 skinmalignant_melanomaSubstitution - Nonsense

c.714T>A; p.P238P; 3:172762464-172762464

 thyroidother; neoplasmSubstitution - coding silent

c.190G>A; p.E64K; 3:172755354-172755354

 skinmalignant_melanomaSubstitution - Missense

c.1223C>T; p.S408F; 3:172769031-172769031

 pancreascarcinomaSubstitution - Missense

c.1693C>G; p.P565A; 3:172784764-172784764

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1732G>T; p.D578Y; 3:172784803-172784803

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2466G>T; p.R822S; 3:172816741-172816741

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.271C>G; p.P91A; 3:172757043-172757043

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.982A>G; p.T328A; 3:172764284-172764284

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2172C>T; p.A724A; 3:172807789-172807789

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.952G>A; p.E318K; 3:172762949-172762949

 pancreasother; adenomaSubstitution - Missense

c.1814+1G>A; p.?; 3:172786575-172786575

 pancreascarcinomaUnknown

c.1948C>G; p.L650V; 3:172802915-172802915

 breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.1011G>A; p.M337I; 3:172764313-172764313

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.526C>T; p.R176*; 3:172760198-172760198

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.591+2T>C; p.?; 3:172760265-172760265

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.438_467del30; p.N147_R156del10; 3:172759024-172759053

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - In frame

c.2196G>T; p.E732D; 3:172807813-172807813

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.614C>A; p.P205Q; 3:172761632-172761632

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1435G>T; p.D479Y; 3:172774002-172774002

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2403G>T; p.K801N; 3:172815699-172815699

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2403G>T; p.K801N; 3:172815699-172815699

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2489C>T; p.S830L; 3:172816764-172816764

 breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.1664G>A; p.R555Q; 3:172784735-172784735

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1907C>A; p.S636Y; 3:172802874-172802874

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2624T>C; p.L875S; 3:172820209-172820209

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1754A>T; p.D585V; 3:172786514-172786514

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2581C>T; p.L861F; 3:172820166-172820166

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1993C>A; p.L665I; 3:172802960-172802960

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.328C>A; p.L110I; 3:172757100-172757100

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1549C>G; p.P517A; 3:172783823-172783823

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.106A>T; p.I36F; 3:172754636-172754636

 livercarcinomaSubstitution - Missense

c.2612G>T; p.R871I; 3:172820197-172820197

 breastcarcinomaSubstitution - Missense

c.106A>T; p.I36F; 3:172754636-172754636

 livercarcinomaSubstitution - Missense

c.2310G>A; p.E770E; 3:172815606-172815606

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1066C>T; p.L356F; 3:172764368-172764368

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2151A>C; p.E717D; 3:172805868-172805868

 livercarcinomaSubstitution - Missense

c.135G>C; p.E45D; 3:172755299-172755299

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2501G>A; p.R834K; 3:172816776-172816776

 breastcarcinomaSubstitution - Missense

c.1569T>C; p.F523F; 3:172783843-172783843

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1663C>T; p.R555W; 3:172784734-172784734

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1004T>C; p.V335A; 3:172764306-172764306

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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