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

Basic Information

Gene ID

2114

Name

ETS2

Synonymous

v-ets avian erythroblastosis virus E26 oncogene homolog 2;ETS2;v-ets avian erythroblastosis virus E26 oncogene homolog 2

Definition

oncogene ETS-2|protein C-ets-2|v-ets avian erythroblastosis virus E2 oncogene homolog 2|v-ets erythroblastosis virus E26 oncogene homolog 2

Position

21q22.2

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 0.10.

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.643G>A; p.G215S; 21:38818478-38818478

skinmalignant_melanomaSubstitution - Missense

c.1374C>T; p.H458H; 21:38822853-38822853

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1356C>T; p.F452F; 21:38822835-38822835

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.670G>T; p.A224S; 21:38818505-38818505

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.816T>G; p.T272T; 21:38819507-38819507

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.431A>C; p.K144T; 21:38814907-38814907

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.816T>G; p.T272T; 21:38819507-38819507

thyroidother; neoplasmSubstitution - coding silent

c.816T>G; p.T272T; 21:38819507-38819507

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.816T>G; p.T272T; 21:38819507-38819507

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.816T>G; p.T272T; 21:38819507-38819507

breastcarcinomaSubstitution - coding silent

c.409C>G; p.Q137E; 21:38814885-38814885

livercarcinomaSubstitution - Missense

c.1298C>G; p.T433R; 21:38822777-38822777

ovaryother; neoplasmSubstitution - Missense

c.1298C>G; p.T433R; 21:38822777-38822777

ovaryother; neoplasmSubstitution - Missense

c.563C>A; p.P188H; 21:38817065-38817065

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.933C>T; p.F311F; 21:38819624-38819624

skinmalignant_melanomaSubstitution - coding silent

c.1326C>T; p.F442F; 21:38822805-38822805

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1326C>T; p.F442F; 21:38822805-38822805

breastcarcinomaSubstitution - coding silent

c.962C>T; p.S321F; 21:38819653-38819653

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1130C>T; p.S377F; 21:38821640-38821640

skinmalignant_melanomaSubstitution - Missense

c.1259G>A; p.G420D; 21:38822738-38822738

skinmalignant_melanomaSubstitution - Missense

c.455C>A; p.P152H; 21:38814931-38814931

adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.936G>A; p.E312E; 21:38819627-38819627

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.498G>A; p.M166I; 21:38814974-38814974

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1202G>A; p.R401H; 21:38822681-38822681

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1066G>T; p.G356C; 21:38819757-38819757

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1236G>C; p.M412I; 21:38822715-38822715

breastcarcinomaSubstitution - Missense

c.447G>C; p.E149D; 21:38814923-38814923

pancreascarcinomaSubstitution - Missense

c.447G>C; p.E149D; 21:38814923-38814923

pancreascarcinomaSubstitution - Missense

c.885C>T; p.S295S; 21:38819576-38819576

skinmalignant_melanomaSubstitution - coding silent

c.1179C>T; p.L393L; 21:38821689-38821689

pancreascarcinomaSubstitution - coding silent

c.748A>C; p.T250P; 21:38818583-38818583

breastcarcinomaSubstitution - Missense

c.888G>A; p.W296*; 21:38819579-38819579

skinmalignant_melanomaSubstitution - Nonsense

c.803A>G; p.N268S; 21:38818638-38818638

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.520A>T; p.T174S; 21:38817022-38817022

oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.981A>G; p.P327P; 21:38819672-38819672

skinmalignant_melanomaSubstitution - coding silent

c.610C>G; p.P204A; 21:38818445-38818445

skinmalignant_melanomaSubstitution - Missense

c.1152_1158delGACTGGA; p.G386fs*25; 21:38821662-38821668

endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.961_962delTC; p.C323fs*3; 21:38819652-38819653

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.646G>A; p.G216S; 21:38818481-38818481

breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.1301C>T; p.S434L; 21:38822780-38822780

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.653T>G; p.L218R; 21:38818488-38818488

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.718C>A; p.P240T; 21:38818553-38818553

kidneyother; neoplasmSubstitution - Missense

c.852C>G; p.D284E; 21:38819543-38819543

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.817C>T; p.P273S; 21:38819508-38819508

skinmalignant_melanomaSubstitution - Missense

c.1336C>A; p.L446I; 21:38822815-38822815

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.725C>T; p.S242F; 21:38818560-38818560

skinmalignant_melanomaSubstitution - Missense

c.1232A>C; p.K411T; 21:38822711-38822711

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.436C>T; p.R146C; 21:38814912-38814912

upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.436C>T; p.R146C; 21:38814912-38814912

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.575A>G; p.N192S; 21:38817077-38817077

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.843C>T; p.N281N; 21:38819534-38819534

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.385C>T; p.L129L; 21:38814861-38814861

pancreasNSSubstitution - coding silent

c.1201C>T; p.R401C; 21:38822680-38822680

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.125C>T; p.S42F; 21:38813055-38813055

skinmalignant_melanomaSubstitution - Missense

c.859G>A; p.E287K; 21:38819550-38819550

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2T>C; p.M1T; 21:38810036-38810036

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.684C>T; p.S228S; 21:38818519-38818519

pancreascarcinoma; adenocarcinomaSubstitution - coding silent

c.905T>A; p.L302*; 21:38819596-38819596

breastcarcinomaSubstitution - Nonsense

c.443T>C; p.L148P; 21:38814919-38814919

breastcarcinomaSubstitution - Missense

c.343C>T; p.L115F; 21:38814819-38814819

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.963T>C; p.S321S; 21:38819654-38819654

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.825C>A; p.D275E; 21:38819516-38819516

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1189G>A; p.D397N; 21:38821699-38821699

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.348C>T; p.L116L; 21:38814824-38814824

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.51C>T; p.N17N; 21:38810085-38810085

cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.554C>T; p.T185I; 21:38817056-38817056

breastcarcinomaSubstitution - Missense

c.189C>T; p.S63S; 21:38814277-38814277

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1254C>A; p.S418R; 21:38822733-38822733

livercarcinomaSubstitution - Missense

c.1254C>A; p.S418R; 21:38822733-38822733

livercarcinomaSubstitution - Missense

c.829G>A; p.D277N; 21:38819520-38819520

breastcarcinomaSubstitution - Missense

c.1084C>T; p.P362S; 21:38821594-38821594

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.151G>T; p.E51*; 21:38813081-38813081

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.350G>T; p.W117L; 21:38814826-38814826

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.709C>A; p.Q237K; 21:38818544-38818544

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.993C>T; p.F331F; 21:38819684-38819684

skinmalignant_melanomaSubstitution - coding silent

c.562C>T; p.P188S; 21:38817064-38817064

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.148C>T; p.Q50*; 21:38813078-38813078

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.157C>T; p.P53S; 21:38813087-38813087

NSmalignant_melanomaSubstitution - Missense

c.837T>C; p.P279P; 21:38819528-38819528

thyroidcarcinoma; anaplastic_carcinomaSubstitution - coding silent

c.1359G>A; p.T453T; 21:38822838-38822838

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1359G>A; p.T453T; 21:38822838-38822838

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.121C>T; p.P41S; 21:38813051-38813051

skinmalignant_melanomaSubstitution - Missense

c.214A>G; p.T72A; 21:38814302-38814302

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1234_1248del15; p.M412_K416delMNYEK; 21:38822713-38822727

soft_tissue; striated_musclerhabdomyosarcomaDeletion - In frame

c.907C>T; p.L303L; 21:38819598-38819598

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.747C>T; p.V249V; 21:38818582-38818582

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - coding silent

c.1310G>A; p.R437H; 21:38822789-38822789

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.122C>T; p.P41L; 21:38813052-38813052

NSmalignant_melanomaSubstitution - Missense

c.1253G>A; p.S418N; 21:38822732-38822732

livercarcinomaSubstitution - Missense

c.1253G>A; p.S418N; 21:38822732-38822732

livercarcinomaSubstitution - Missense

c.1040C>T; p.P347L; 21:38819731-38819731

skinmalignant_melanomaSubstitution - Missense

c.942C>T; p.F314F; 21:38819633-38819633

skinmalignant_melanomaSubstitution - coding silent

c.930C>T; p.S310S; 21:38819621-38819621

skinmalignant_melanomaSubstitution - coding silent

c.1309C>T; p.R437C; 21:38822788-38822788

prostatecarcinomaSubstitution - Missense

c.499A>T; p.I167F; 21:38814975-38814975

breastcarcinomaSubstitution - Missense

c.1314C>T; p.Y438Y; 21:38822793-38822793

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1386C>T; p.G462G; 21:38822865-38822865

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.441T>A; p.F147L; 21:38814917-38814917

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1296G>T; p.K432N; 21:38822775-38822775

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.608C>G; p.A203G; 21:38818443-38818443

skinmalignant_melanomaSubstitution - Missense


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