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

Basic Information

Gene ID

23671

Name

TMEFF2

Synonymous

transmembrane protein with EGF-like and two follistatin-like domains 2;TMEFF2;transmembrane protein with EGF-like and two follistatin-like domains 2

Definition

cancer/testis antigen family 120, member 2|hyperplastic polyposis protein 1|tomoregulin|tomoregulin-2|transmembrane protein TENB2

Position

2q32.3

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 0.11.

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.333G>A; p.Q111Q; 2:192184433-192184433

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.516C>T; p.D172D; 2:192057699-192057699

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.838C>A; p.H280N; 2:191956286-191956286

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.571T>G; p.F191V; 2:191999174-191999174

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.1049G>T; p.R350I; 2:191950387-191950387

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.851T>C; p.M284T; 2:191956273-191956273

 breastcarcinomaSubstitution - Missense

c.303T>C; p.P101P; 2:192184463-192184463

 breastcarcinomaSubstitution - coding silent

c.157G>A; p.G53S; 2:192194368-192194368

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.552T>A; p.I184I; 2:191999193-191999193

 ovaryother; neoplasmSubstitution - coding silent

c.585C>T; p.C195C; 2:191999160-191999160

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.585C>T; p.C195C; 2:191999160-191999160

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.366A>G; p.K122K; 2:192184400-192184400

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.778G>A; p.E260K; 2:191956346-191956346

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.255C>A; p.D85E; 2:192191907-192191907

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.49G>A; p.E17K; 2:192194476-192194476

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.579C>T; p.P193P; 2:191999166-191999166

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.950T>G; p.F317C; 2:191953757-191953757

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.607G>A; p.D203N; 2:191999138-191999138

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.23G>A; p.R8Q; 2:192194502-192194502

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.940C>A; p.P314T; 2:191953767-191953767

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.816C>A; p.F272L; 2:191956308-191956308

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.666G>A; p.M222I; 2:191999079-191999079

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.947G>A; p.R316Q; 2:191953760-191953760

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1056C>A; p.H352Q; 2:191950380-191950380

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.947G>A; p.R316Q; 2:191953760-191953760

 skinmalignant_melanomaSubstitution - Missense

c.947G>A; p.R316Q; 2:191953760-191953760

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.927C>T; p.Y309Y; 2:191953780-191953780

 skin; nipplemalignant_melanomaSubstitution - coding silent

c.27G>A; p.Q9Q; 2:192194498-192194498

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.341G>A; p.C114Y; 2:192184425-192184425

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.738T>G; p.D246E; 2:191998269-191998269

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1049G>A; p.R350K; 2:191950387-191950387

 skinmalignant_melanomaSubstitution - Missense

c.204C>T; p.L68L; 2:192191958-192191958

 skinmalignant_melanomaSubstitution - coding silent

c.662T>A; p.V221D; 2:191999083-191999083

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.677G>A; p.R226Q; 2:191999068-191999068

 skinmalignant_melanomaSubstitution - Missense

c.503G>A; p.G168D; 2:192057712-192057712

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.554A>C; p.D185A; 2:191999191-191999191

 breastcarcinomaSubstitution - Missense

c.603T>C; p.S201S; 2:191999142-191999142

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.831_844del14; p.K277fs*11; 2:191956280-191956293

 oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.910G>C; p.D304H; 2:191953797-191953797

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.940C>T; p.P314S; 2:191953767-191953767

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.592G>T; p.D198Y; 2:191999153-191999153

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.41C>T; p.T14I; 2:192194484-192194484

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.917G>A; p.S306N; 2:191953790-191953790

 skinmalignant_melanomaSubstitution - Missense

c.593A>T; p.D198V; 2:191999152-191999152

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.397_398GG>AA; p.G133K; 2:192184368-192184369

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.28T>G; p.C10G; 2:192194497-192194497

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.517G>A; p.E173K; 2:192057698-192057698

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.768A>T; p.E256D; 2:191956356-191956356

 skinmalignant_melanomaSubstitution - Missense

c.1002C>A; p.I334I; 2:191953705-191953705

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.322G>A; p.E108K; 2:192184444-192184444

 skinmalignant_melanomaSubstitution - Missense

c.658G>A; p.E220K; 2:191999087-191999087

 skinmalignant_melanomaSubstitution - Missense

c.658G>A; p.E220K; 2:191999087-191999087

 skinmalignant_melanomaSubstitution - Missense

c.1037C>A; p.P346H; 2:191950399-191950399

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.476C>A; p.T159K; 2:192057739-192057739

 central_nervous_system; braingliomaSubstitution - Missense

c.927C>G; p.Y309*; 2:191953780-191953780

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.972T>A; p.A324A; 2:191953735-191953735

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.910G>A; p.D304N; 2:191953797-191953797

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.910G>A; p.D304N; 2:191953797-191953797

 skinmalignant_melanomaSubstitution - Missense

c.1035C>T; p.C345C; 2:191950401-191950401

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.439+10G>A; p.?; 2:192179658-192179658

 pancreascarcinomaUnknown

c.439+10G>A; p.?; 2:192179658-192179658

 pancreascarcinomaUnknown

c.150G>A; p.T50T; 2:192194375-192194375

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.797C>T; p.P266L; 2:191956327-191956327

 kidneyother; neoplasmSubstitution - Missense

c.980G>C; p.G327A; 2:191953727-191953727

 central_nervous_system; braingliomaSubstitution - Missense

c.219C>A; p.T73T; 2:192191943-192191943

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.189A>G; p.E63E; 2:192191973-192191973

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.624C>T; p.I208I; 2:191999121-191999121

 skinmalignant_melanomaSubstitution - coding silent

c.979G>A; p.G327R; 2:191953728-191953728

 skinmalignant_melanomaSubstitution - Missense

c.318T>A; p.N106K; 2:192184448-192184448

 central_nervous_system; braingliomaSubstitution - Missense

c.318T>A; p.N106K; 2:192184448-192184448

 lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.156C>T; p.T52T; 2:192194369-192194369

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.78C>T; p.P26P; 2:192194447-192194447

 skinmalignant_melanomaSubstitution - coding silent

c.84G>A; p.M28I; 2:192194441-192194441

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.521A>C; p.D174A; 2:192057694-192057694

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.286A>C; p.N96H; 2:192184480-192184480

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.908A>G; p.K303R; 2:191953799-191953799

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.218C>A; p.T73N; 2:192191944-192191944

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.101G>A; p.R34H; 2:192194424-192194424

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.101G>A; p.R34H; 2:192194424-192194424

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.536+2T>A; p.?; 2:192057677-192057677

 lungcarcinoma; adenocarcinomaUnknown

c.74_76delTGC; p.L25delL; 2:192194449-192194451

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.401C>A; p.S134*; 2:192184365-192184365

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1092C>A; p.D364E; 2:191950344-191950344

 pancreasNSSubstitution - Missense

c.928G>A; p.V310I; 2:191953779-191953779

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.378G>T; p.E126D; 2:192184388-192184388

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.585C>A; p.C195*; 2:191999160-191999160

 livercarcinomaSubstitution - Nonsense

c.301C>G; p.P101A; 2:192184465-192184465

 pancreascarcinomaSubstitution - Missense

c.1106C>T; p.A369V; 2:191950330-191950330

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.632C>A; p.A211E; 2:191999113-191999113

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.385G>C; p.V129L; 2:192184381-192184381

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.937G>T; p.G313C; 2:191953770-191953770

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.908delA; p.K303fs*19; 2:191953799-191953799

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.908delA; p.K303fs*19; 2:191953799-191953799

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.613G>T; p.A205S; 2:191999132-191999132

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.48C>T; p.C16C; 2:192194477-192194477

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.350G>A; p.R117Q; 2:192184416-192184416

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.922C>G; p.L308V; 2:191953785-191953785

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.630A>C; p.E210D; 2:191999115-191999115

 stomachadenocarcinomaSubstitution - Missense

c.811G>A; p.G271S; 2:191956313-191956313

 livercarcinomaSubstitution - Missense

c.591T>A; p.S197S; 2:191999154-191999154

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.811G>A; p.G271S; 2:191956313-191956313

 livercarcinomaSubstitution - Missense

c.908_909insA; p.D304fs*>72; 2:191953798-191953799

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.870-2A>T; p.?; 2:191953839-191953839

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourUnknown

c.242T>C; p.L81S; 2:192191920-192191920

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.242T>C; p.L81S; 2:192191920-192191920

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.676C>T; p.R226*; 2:191999069-191999069

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.601T>C; p.S201P; 2:191999144-191999144

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.984A>G; p.T328T; 2:191953723-191953723

 breastcarcinoma; HER-positive_carcinomaSubstitution - coding silent

c.747G>A; p.E249E; 2:191956377-191956377

 pancreascarcinomaSubstitution - coding silent

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