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 |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
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 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; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1464C>T; p.A488A; 2:31266560-31266560 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.11G>T; p.W4L; 2:31234632-31234632 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.325A>G; p.I109V; 2:31244371-31244371 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.883A>G; p.N295D; 2:31260890-31260890 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.729C>T; p.I243I; 2:31260736-31260736 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1303G>A; p.D435N; 2:31266399-31266399 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1303G>A; p.D435N; 2:31266399-31266399 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.102G>A; p.L34L; 2:31234723-31234723 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.349G>A; p.D117N; 2:31244395-31244395 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.349G>A; p.D117N; 2:31244395-31244395 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.717C>T; p.S239S; 2:31260724-31260724 |
skin | malignant_melanoma | Substitution - coding silent |
c.1138G>C; p.E380Q; 2:31266234-31266234 |
parathyroid | carcinoma | Substitution - Missense |
c.699C>T; p.Y233Y; 2:31260706-31260706 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.699C>T; p.Y233Y; 2:31260706-31260706 |
large_intestine; colon | adenoma | Substitution - coding silent |
c.588C>T; p.I196I; 2:31260595-31260595 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.699C>T; p.Y233Y; 2:31260706-31260706 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.436C>T; p.L146L; 2:31249402-31249402 |
skin | malignant_melanoma | Substitution - coding silent |
c.1293A>T; p.G431G; 2:31266389-31266389 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.752G>A; p.R251Q; 2:31260759-31260759 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.628C>T; p.H210Y; 2:31260635-31260635 |
liver | carcinoma | Substitution - Missense |
c.190G>T; p.V64L; 2:31234811-31234811 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.776C>A; p.S259Y; 2:31260783-31260783 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659A>C; p.K220T; 2:31260666-31260666 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1242C>T; p.F414F; 2:31266338-31266338 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1242C>T; p.F414F; 2:31266338-31266338 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.21G>C; p.T7T; 2:31234642-31234642 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1532A>C; p.K511T; 2:31266628-31266628 |
skin | malignant_melanoma | Substitution - Missense |
c.1532A>C; p.K511T; 2:31266628-31266628 |
skin | malignant_melanoma | Substitution - Missense |
c.1019G>A; p.G340D; 2:31261652-31261652 |
NS | NS | Substitution - Missense |
c.141G>A; p.S47S; 2:31234762-31234762 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.46G>A; p.E16K; 2:31234667-31234667 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.855G>T; p.L285L; 2:31260862-31260862 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.858C>A; p.P286P; 2:31260865-31260865 |
skin; arm | malignant_melanoma | Substitution - coding silent |
c.1558G>A; p.E520K; 2:31266654-31266654 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.672C>T; p.I224I; 2:31260679-31260679 |
skin | malignant_melanoma | Substitution - coding silent |
c.1152C>T; p.D384D; 2:31266248-31266248 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.931A>T; p.I311F; 2:31261564-31261564 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.381C>T; p.A127A; 2:31244427-31244427 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.78G>T; p.K26N; 2:31234699-31234699 |
breast | carcinoma | Substitution - Missense |
c.130G>A; p.E44K; 2:31234751-31234751 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.130G>A; p.E44K; 2:31234751-31234751 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.362C>T; p.P121L; 2:31244408-31244408 |
skin | malignant_melanoma | Substitution - Missense |
c.66T>C; p.S22S; 2:31234687-31234687 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.762C>T; p.I254I; 2:31260769-31260769 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1030C>T; p.R344W; 2:31261663-31261663 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1562T>G; p.L521R; 2:31266658-31266658 |
skin | malignant_melanoma | Substitution - Missense |
c.100C>T; p.L34L; 2:31234721-31234721 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1260C>T; p.G420G; 2:31266356-31266356 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1438G>T; p.V480L; 2:31266534-31266534 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1365G>A; p.L455L; 2:31266461-31266461 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.859C>T; p.R287*; 2:31260866-31260866 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.859C>T; p.R287*; 2:31260866-31260866 |
skin; arm | malignant_melanoma | Substitution - Nonsense |
c.976A>T; p.N326Y; 2:31261609-31261609 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1371G>A; p.P457P; 2:31266467-31266467 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1239G>A; p.A413A; 2:31266335-31266335 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.860G>A; p.R287Q; 2:31260867-31260867 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1381A>G; p.K461E; 2:31266477-31266477 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.677C>T; p.T226M; 2:31260684-31260684 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.527A>G; p.E176G; 2:31260534-31260534 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.666C>A; p.D222E; 2:31260673-31260673 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.166G>C; p.D56H; 2:31234787-31234787 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1539G>T; p.E513D; 2:31266635-31266635 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.990G>A; p.E330E; 2:31261623-31261623 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1348G>A; p.E450K; 2:31266444-31266444 |
skin | malignant_melanoma | Substitution - Missense |
c.1471G>A; p.D491N; 2:31266567-31266567 |
breast | carcinoma | Substitution - Missense |
c.1348G>A; p.E450K; 2:31266444-31266444 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1393G>C; p.A465P; 2:31266489-31266489 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.165C>T; p.F55F; 2:31234786-31234786 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1257C>T; p.H419H; 2:31266353-31266353 |
breast | carcinoma | Substitution - coding silent |
c.1056C>A; p.D352E; 2:31261689-31261689 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.468G>A; p.G156G; 2:31249434-31249434 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1344C>T; p.Y448Y; 2:31266440-31266440 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1353C>A; p.I451I; 2:31266449-31266449 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1511C>A; p.A504D; 2:31266607-31266607 |
ovary | other; neoplasm | Substitution - Missense |
c.673G>A; p.E225K; 2:31260680-31260680 |
skin | malignant_melanoma | Substitution - Missense |
c.844A>G; p.I282V; 2:31260851-31260851 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1535T>C; p.L512P; 2:31266631-31266631 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.600C>A; p.F200L; 2:31260607-31260607 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1408G>T; p.E470*; 2:31266504-31266504 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1019_1028del10; p.R341fs*13; 2:31261652-31261661 |
breast | carcinoma | Deletion - Frameshift |
c.568G>A; p.D190N; 2:31260575-31260575 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1031G>T; p.R344L; 2:31261664-31261664 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1047A>T; p.S349S; 2:31261680-31261680 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.273G>T; p.E91D; 2:31244319-31244319 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1038C>T; p.H346H; 2:31261671-31261671 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.501G>T; p.R167R; 2:31249467-31249467 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.499C>T; p.R167W; 2:31249465-31249465 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1309G>T; p.A437S; 2:31266405-31266405 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.871C>A; p.L291M; 2:31260878-31260878 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.871C>A; p.L291M; 2:31260878-31260878 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1218C>T; p.I406I; 2:31266314-31266314 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.792C>T; p.I264I; 2:31260799-31260799 |
skin | malignant_melanoma | Substitution - coding silent |
c.400A>T; p.N134Y; 2:31244446-31244446 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1210C>T; p.R404W; 2:31266306-31266306 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1210C>T; p.R404W; 2:31266306-31266306 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.560T>C; p.L187P; 2:31260567-31260567 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1137G>T; p.L379L; 2:31266233-31266233 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.232C>A; p.L78M; 2:31244278-31244278 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.773G>T; p.W258L; 2:31260780-31260780 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1465G>A; p.D489N; 2:31266561-31266561 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.503G>C; p.G168A; 2:31260510-31260510 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.772T>C; p.W258R; 2:31260779-31260779 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.159C>T; p.A53A; 2:31234780-31234780 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1070A>C; p.K357T; 2:31261703-31261703 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1199A>G; p.E400G; 2:31266295-31266295 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.145G>A; p.A49T; 2:31234766-31234766 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.811T>A; p.F271I; 2:31260818-31260818 |
skin | malignant_melanoma | Substitution - Missense |
c.1012A>G; p.I338V; 2:31261645-31261645 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.337G>A; p.A113T; 2:31244383-31244383 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.337G>A; p.A113T; 2:31244383-31244383 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.732G>A; p.V244V; 2:31260739-31260739 |
breast | carcinoma | Substitution - coding silent |
c.1009G>A; p.E337K; 2:31261642-31261642 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1009G>A; p.E337K; 2:31261642-31261642 |
skin | malignant_melanoma | Substitution - Missense |
c.995T>A; p.V332D; 2:31261628-31261628 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.450C>T; p.S150S; 2:31249416-31249416 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.194G>A; p.G65D; 2:31234815-31234815 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.763G>A; p.G255S; 2:31260770-31260770 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1132C>A; p.L378M; 2:31266228-31266228 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.61G>A; p.V21M; 2:31234682-31234682 |
skin | malignant_melanoma | Substitution - Missense |
c.530G>A; p.W177*; 2:31260537-31260537 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.1102T>C; p.F368L; 2:31266198-31266198 |
skin; acral | malignant_melanoma | Substitution - Missense |
c.528G>A; p.E176E; 2:31260535-31260535 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.703G>A; p.A235T; 2:31260710-31260710 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1070A>G; p.K357R; 2:31261703-31261703 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1259G>A; p.G420D; 2:31266355-31266355 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.777C>A; p.S259S; 2:31260784-31260784 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.25G>A; p.D9N; 2:31234646-31234646 |
skin | malignant_melanoma | Substitution - Missense |
c.1161C>T; p.A387A; 2:31266257-31266257 |
skin | malignant_melanoma | Substitution - coding silent |
c.802C>T; p.R268W; 2:31260809-31260809 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.874C>T; p.R292C; 2:31260881-31260881 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.802C>T; p.R268W; 2:31260809-31260809 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.627C>A; p.N209K; 2:31260634-31260634 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.209G>A; p.G70E; 2:31234830-31234830 |
skin | malignant_melanoma | Substitution - Missense |
c.1049C>A; p.P350H; 2:31261682-31261682 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.379G>A; p.A127T; 2:31244425-31244425 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.886G>A; p.D296N; 2:31260893-31260893 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.886G>A; p.D296N; 2:31260893-31260893 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.739C>T; p.P247S; 2:31260746-31260746 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1104T>C; p.F368F; 2:31266200-31266200 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.739C>T; p.P247S; 2:31260746-31260746 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.739C>T; p.P247S; 2:31260746-31260746 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.739C>T; p.P247S; 2:31260746-31260746 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.198G>C; p.Q66H; 2:31234819-31234819 |
skin | malignant_melanoma | Substitution - Missense |
c.739C>T; p.P247S; 2:31260746-31260746 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.739C>T; p.P247S; 2:31260746-31260746 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.739C>T; p.P247S; 2:31260746-31260746 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.739C>T; p.P247S; 2:31260746-31260746 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.739C>T; p.P247S; 2:31260746-31260746 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.643C>T; p.R215*; 2:31260650-31260650 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.643C>T; p.R215*; 2:31260650-31260650 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1471G>C; p.D491H; 2:31266567-31266567 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.122G>T; p.R41L; 2:31234743-31234743 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1498G>A; p.E500K; 2:31266594-31266594 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1448A>T; p.K483M; 2:31266544-31266544 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1203G>A; p.E401E; 2:31266299-31266299 |
skin | malignant_melanoma | Substitution - coding silent |
c.579A>T; p.K193N; 2:31260586-31260586 |
skin | malignant_melanoma | Substitution - Missense |
c.250C>T; p.P84S; 2:31244296-31244296 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.344T>G; p.V115G; 2:31244390-31244390 |
skin | malignant_melanoma | Substitution - Missense |
c.35G>T; p.R12M; 2:31234656-31234656 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.378C>T; p.N126N; 2:31244424-31244424 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.378C>T; p.N126N; 2:31244424-31244424 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.688A>C; p.M230L; 2:31260695-31260695 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.296C>T; p.A99V; 2:31244342-31244342 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |