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

Basic Information

Gene ID

30845

Name

EHD3

Synonymous

EH-domain containing 3;EHD3;EH-domain containing 3

Definition

EH domain containing 3|EH domain-containing protein 3|PAST homolog 3

Position

2p21

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 0.05.

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.1021C>T; p.R341W; 2:31261654-31261654

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1464C>T; p.A488A; 2:31266560-31266560

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.11G>T; p.W4L; 2:31234632-31234632

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.325A>G; p.I109V; 2:31244371-31244371

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.883A>G; p.N295D; 2:31260890-31260890

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.729C>T; p.I243I; 2:31260736-31260736

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1303G>A; p.D435N; 2:31266399-31266399

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1303G>A; p.D435N; 2:31266399-31266399

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.102G>A; p.L34L; 2:31234723-31234723

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.349G>A; p.D117N; 2:31244395-31244395

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.349G>A; p.D117N; 2:31244395-31244395

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.717C>T; p.S239S; 2:31260724-31260724

skinmalignant_melanomaSubstitution - coding silent

c.1138G>C; p.E380Q; 2:31266234-31266234

parathyroidcarcinomaSubstitution - Missense

c.699C>T; p.Y233Y; 2:31260706-31260706

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.699C>T; p.Y233Y; 2:31260706-31260706

large_intestine; colonadenomaSubstitution - coding silent

c.588C>T; p.I196I; 2:31260595-31260595

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.699C>T; p.Y233Y; 2:31260706-31260706

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.436C>T; p.L146L; 2:31249402-31249402

skinmalignant_melanomaSubstitution - coding silent

c.1293A>T; p.G431G; 2:31266389-31266389

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.752G>A; p.R251Q; 2:31260759-31260759

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.628C>T; p.H210Y; 2:31260635-31260635

livercarcinomaSubstitution - Missense

c.190G>T; p.V64L; 2:31234811-31234811

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.776C>A; p.S259Y; 2:31260783-31260783

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.659A>C; p.K220T; 2:31260666-31260666

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1242C>T; p.F414F; 2:31266338-31266338

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1242C>T; p.F414F; 2:31266338-31266338

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.21G>C; p.T7T; 2:31234642-31234642

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1532A>C; p.K511T; 2:31266628-31266628

skinmalignant_melanomaSubstitution - Missense

c.1532A>C; p.K511T; 2:31266628-31266628

skinmalignant_melanomaSubstitution - Missense

c.1019G>A; p.G340D; 2:31261652-31261652

NSNSSubstitution - Missense

c.141G>A; p.S47S; 2:31234762-31234762

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.46G>A; p.E16K; 2:31234667-31234667

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.855G>T; p.L285L; 2:31260862-31260862

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.858C>A; p.P286P; 2:31260865-31260865

skin; armmalignant_melanomaSubstitution - coding silent

c.1558G>A; p.E520K; 2:31266654-31266654

breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.672C>T; p.I224I; 2:31260679-31260679

skinmalignant_melanomaSubstitution - coding silent

c.1152C>T; p.D384D; 2:31266248-31266248

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.931A>T; p.I311F; 2:31261564-31261564

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.381C>T; p.A127A; 2:31244427-31244427

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.78G>T; p.K26N; 2:31234699-31234699

breastcarcinomaSubstitution - Missense

c.130G>A; p.E44K; 2:31234751-31234751

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.130G>A; p.E44K; 2:31234751-31234751

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.362C>T; p.P121L; 2:31244408-31244408

skinmalignant_melanomaSubstitution - Missense

c.66T>C; p.S22S; 2:31234687-31234687

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.762C>T; p.I254I; 2:31260769-31260769

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1030C>T; p.R344W; 2:31261663-31261663

oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1562T>G; p.L521R; 2:31266658-31266658

skinmalignant_melanomaSubstitution - Missense

c.100C>T; p.L34L; 2:31234721-31234721

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1260C>T; p.G420G; 2:31266356-31266356

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1438G>T; p.V480L; 2:31266534-31266534

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1365G>A; p.L455L; 2:31266461-31266461

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.859C>T; p.R287*; 2:31260866-31260866

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.859C>T; p.R287*; 2:31260866-31260866

skin; armmalignant_melanomaSubstitution - Nonsense

c.976A>T; p.N326Y; 2:31261609-31261609

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1371G>A; p.P457P; 2:31266467-31266467

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1239G>A; p.A413A; 2:31266335-31266335

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.860G>A; p.R287Q; 2:31260867-31260867

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1381A>G; p.K461E; 2:31266477-31266477

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.677C>T; p.T226M; 2:31260684-31260684

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.527A>G; p.E176G; 2:31260534-31260534

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.666C>A; p.D222E; 2:31260673-31260673

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.166G>C; p.D56H; 2:31234787-31234787

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1539G>T; p.E513D; 2:31266635-31266635

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.990G>A; p.E330E; 2:31261623-31261623

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1348G>A; p.E450K; 2:31266444-31266444

skinmalignant_melanomaSubstitution - Missense

c.1471G>A; p.D491N; 2:31266567-31266567

breastcarcinomaSubstitution - Missense

c.1348G>A; p.E450K; 2:31266444-31266444

skin; mucosalmalignant_melanomaSubstitution - Missense

c.1393G>C; p.A465P; 2:31266489-31266489

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.165C>T; p.F55F; 2:31234786-31234786

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1257C>T; p.H419H; 2:31266353-31266353

breastcarcinomaSubstitution - coding silent

c.1056C>A; p.D352E; 2:31261689-31261689

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.468G>A; p.G156G; 2:31249434-31249434

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1344C>T; p.Y448Y; 2:31266440-31266440

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1353C>A; p.I451I; 2:31266449-31266449

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1511C>A; p.A504D; 2:31266607-31266607

ovaryother; neoplasmSubstitution - Missense

c.673G>A; p.E225K; 2:31260680-31260680

skinmalignant_melanomaSubstitution - Missense

c.844A>G; p.I282V; 2:31260851-31260851

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1535T>C; p.L512P; 2:31266631-31266631

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.600C>A; p.F200L; 2:31260607-31260607

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1408G>T; p.E470*; 2:31266504-31266504

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1019_1028del10; p.R341fs*13; 2:31261652-31261661

breastcarcinomaDeletion - Frameshift

c.568G>A; p.D190N; 2:31260575-31260575

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1031G>T; p.R344L; 2:31261664-31261664

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1047A>T; p.S349S; 2:31261680-31261680

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.273G>T; p.E91D; 2:31244319-31244319

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1038C>T; p.H346H; 2:31261671-31261671

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.501G>T; p.R167R; 2:31249467-31249467

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.499C>T; p.R167W; 2:31249465-31249465

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1309G>T; p.A437S; 2:31266405-31266405

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.871C>A; p.L291M; 2:31260878-31260878

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.871C>A; p.L291M; 2:31260878-31260878

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1218C>T; p.I406I; 2:31266314-31266314

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.792C>T; p.I264I; 2:31260799-31260799

skinmalignant_melanomaSubstitution - coding silent

c.400A>T; p.N134Y; 2:31244446-31244446

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1210C>T; p.R404W; 2:31266306-31266306

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1210C>T; p.R404W; 2:31266306-31266306

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.560T>C; p.L187P; 2:31260567-31260567

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1137G>T; p.L379L; 2:31266233-31266233

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.232C>A; p.L78M; 2:31244278-31244278

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.773G>T; p.W258L; 2:31260780-31260780

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1465G>A; p.D489N; 2:31266561-31266561

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.503G>C; p.G168A; 2:31260510-31260510

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.772T>C; p.W258R; 2:31260779-31260779

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.159C>T; p.A53A; 2:31234780-31234780

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1070A>C; p.K357T; 2:31261703-31261703

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1199A>G; p.E400G; 2:31266295-31266295

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.145G>A; p.A49T; 2:31234766-31234766

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.811T>A; p.F271I; 2:31260818-31260818

skinmalignant_melanomaSubstitution - Missense

c.1012A>G; p.I338V; 2:31261645-31261645

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.337G>A; p.A113T; 2:31244383-31244383

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.337G>A; p.A113T; 2:31244383-31244383

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.732G>A; p.V244V; 2:31260739-31260739

breastcarcinomaSubstitution - coding silent

c.1009G>A; p.E337K; 2:31261642-31261642

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1009G>A; p.E337K; 2:31261642-31261642

skinmalignant_melanomaSubstitution - Missense

c.995T>A; p.V332D; 2:31261628-31261628

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.450C>T; p.S150S; 2:31249416-31249416

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.194G>A; p.G65D; 2:31234815-31234815

oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.763G>A; p.G255S; 2:31260770-31260770

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1132C>A; p.L378M; 2:31266228-31266228

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.61G>A; p.V21M; 2:31234682-31234682

skinmalignant_melanomaSubstitution - Missense

c.530G>A; p.W177*; 2:31260537-31260537

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.1102T>C; p.F368L; 2:31266198-31266198

skin; acralmalignant_melanomaSubstitution - Missense

c.528G>A; p.E176E; 2:31260535-31260535

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.703G>A; p.A235T; 2:31260710-31260710

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1070A>G; p.K357R; 2:31261703-31261703

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1259G>A; p.G420D; 2:31266355-31266355

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.777C>A; p.S259S; 2:31260784-31260784

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.25G>A; p.D9N; 2:31234646-31234646

skinmalignant_melanomaSubstitution - Missense

c.1161C>T; p.A387A; 2:31266257-31266257

skinmalignant_melanomaSubstitution - coding silent

c.802C>T; p.R268W; 2:31260809-31260809

adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.874C>T; p.R292C; 2:31260881-31260881

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.802C>T; p.R268W; 2:31260809-31260809

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.627C>A; p.N209K; 2:31260634-31260634

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.209G>A; p.G70E; 2:31234830-31234830

skinmalignant_melanomaSubstitution - Missense

c.1049C>A; p.P350H; 2:31261682-31261682

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.379G>A; p.A127T; 2:31244425-31244425

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.886G>A; p.D296N; 2:31260893-31260893

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.886G>A; p.D296N; 2:31260893-31260893

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.739C>T; p.P247S; 2:31260746-31260746

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1104T>C; p.F368F; 2:31266200-31266200

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.739C>T; p.P247S; 2:31260746-31260746

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.739C>T; p.P247S; 2:31260746-31260746

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.739C>T; p.P247S; 2:31260746-31260746

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.198G>C; p.Q66H; 2:31234819-31234819

skinmalignant_melanomaSubstitution - Missense

c.739C>T; p.P247S; 2:31260746-31260746

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.739C>T; p.P247S; 2:31260746-31260746

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.739C>T; p.P247S; 2:31260746-31260746

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.739C>T; p.P247S; 2:31260746-31260746

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.739C>T; p.P247S; 2:31260746-31260746

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.643C>T; p.R215*; 2:31260650-31260650

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.643C>T; p.R215*; 2:31260650-31260650

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1471G>C; p.D491H; 2:31266567-31266567

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.122G>T; p.R41L; 2:31234743-31234743

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1498G>A; p.E500K; 2:31266594-31266594

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1448A>T; p.K483M; 2:31266544-31266544

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1203G>A; p.E401E; 2:31266299-31266299

skinmalignant_melanomaSubstitution - coding silent

c.579A>T; p.K193N; 2:31260586-31260586

skinmalignant_melanomaSubstitution - Missense

c.250C>T; p.P84S; 2:31244296-31244296

skin; extremitymalignant_melanomaSubstitution - Missense

c.344T>G; p.V115G; 2:31244390-31244390

skinmalignant_melanomaSubstitution - Missense

c.35G>T; p.R12M; 2:31234656-31234656

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.378C>T; p.N126N; 2:31244424-31244424

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.378C>T; p.N126N; 2:31244424-31244424

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.688A>C; p.M230L; 2:31260695-31260695

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.296C>T; p.A99V; 2:31244342-31244342

pancreascarcinoma; ductal_carcinomaSubstitution - Missense


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