| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 2022 |
Name | ENG |
Synonymous | endoglin;ENG;endoglin |
Definition | CD105 antigen |
Position | 9q34.11 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.943G>A; p.V315M; 9:127824848-127824848 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.35T>C; p.L12P; 9:127854321-127854321 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.189A>C; p.E63D; 9:127843124-127843124 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.790G>A; p.D264N; 9:127825257-127825257 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.790G>A; p.D264N; 9:127825257-127825257 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1839C>G; p.I613M; 9:127815956-127815956 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.764G>A; p.G255D; 9:127825283-127825283 |
skin | malignant_melanoma | Substitution - Missense |
c.1199delG; p.G400fs*21; 9:127819973-127819973 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1671C>T; p.T557T; 9:127818135-127818135 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1641C>T; p.L547L; 9:127818165-127818165 |
skin | malignant_melanoma | Substitution - coding silent |
c.1641C>T; p.L547L; 9:127818165-127818165 |
breast | carcinoma | Substitution - coding silent |
c.1316A>G; p.K439R; 9:127818828-127818828 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1155G>T; p.T385T; 9:127820017-127820017 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.1669A>T; p.T557S; 9:127818137-127818137 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1773C>T; p.A591A; 9:127816022-127816022 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.297C>T; p.L99L; 9:127829750-127829750 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.500G>T; p.S167I; 9:127826533-127826533 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1508C>T; p.T503I; 9:127818298-127818298 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.976C>T; p.H326Y; 9:127824815-127824815 |
skin | malignant_melanoma | Substitution - Missense |
c.1660C>T; p.R554C; 9:127818146-127818146 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.752T>C; p.L251P; 9:127825295-127825295 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1216C>T; p.R406C; 9:127819956-127819956 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.958G>A; p.A320T; 9:127824833-127824833 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1795G>A; p.A599T; 9:127816000-127816000 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1167C>T; p.F389F; 9:127820005-127820005 |
breast | carcinoma | Substitution - coding silent |
c.500G>A; p.S167N; 9:127826533-127826533 |
liver | carcinoma | Substitution - Missense |
c.892G>A; p.G298S; 9:127824899-127824899 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.183C>T; p.I61I; 9:127843130-127843130 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.898C>T; p.L300L; 9:127824893-127824893 |
skin | malignant_melanoma | Substitution - coding silent |
c.1154C>T; p.T385M; 9:127820018-127820018 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.121G>A; p.E41K; 9:127843192-127843192 |
breast | carcinoma | Substitution - Missense |
c.172C>A; p.P58T; 9:127843141-127843141 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1329C>G; p.L443L; 9:127818815-127818815 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.360+7G>T; p.?; 9:127829680-127829680 |
stomach | adenocarcinoma | Unknown |
c.727G>A; p.A243T; 9:127825320-127825320 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1054_1055CC>TT; p.P352L; 9:127824383-127824384 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1056G>C; p.P352P; 9:127824382-127824382 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.852G>T; p.E284D; 9:127824939-127824939 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.225G>A; p.P75P; 9:127829822-127829822 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1494G>A; p.G498G; 9:127818312-127818312 |
pancreas | carcinoma | Substitution - coding silent |
c.1494G>A; p.G498G; 9:127818312-127818312 |
pancreas | carcinoma | Substitution - coding silent |
c.1406C>T; p.P469L; 9:127818738-127818738 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1701T>C; p.T567T; 9:127817189-127817189 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1443A>G; p.P481P; 9:127818363-127818363 |
breast | carcinoma | Substitution - coding silent |
c.119G>A; p.G40D; 9:127843194-127843194 |
skin | malignant_melanoma | Substitution - Missense |
c.1871C>A; p.P624Q; 9:127815924-127815924 |
breast | carcinoma | Substitution - Missense |
c.308G>A; p.S103N; 9:127829739-127829739 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.451G>C; p.A151P; 9:127826582-127826582 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.468C>T; p.I156I; 9:127826565-127826565 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1796C>T; p.A599V; 9:127815999-127815999 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1077C>G; p.I359M; 9:127824361-127824361 |
ovary | other; neoplasm | Substitution - Missense |
c.443A>G; p.E148G; 9:127826590-127826590 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.156C>T; p.G52G; 9:127843157-127843157 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1114C>T; p.L372L; 9:127824324-127824324 |
meninges | meningioma | Substitution - coding silent |
c.89G>A; p.C30Y; 9:127843224-127843224 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1851G>A; p.T617T; 9:127815944-127815944 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1851G>A; p.T617T; 9:127815944-127815944 |
pancreas | carcinoma | Substitution - coding silent |
c.1733A>G; p.D578G; 9:127817157-127817157 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.596G>A; p.R199H; 9:127825788-127825788 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.857delA; p.N286fs*73; 9:127824934-127824934 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.360C>T; p.Y120Y; 9:127829687-127829687 |
stomach | adenocarcinoma | Substitution - coding silent |
c.1171G>T; p.D391Y; 9:127820001-127820001 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1725C>T; p.I575I; 9:127817165-127817165 |
breast | carcinoma | Substitution - coding silent |
c.97C>T; p.Q33*; 9:127843216-127843216 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1092C>T; p.A364A; 9:127824346-127824346 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.540C>T; p.S180S; 9:127825844-127825844 |
skin | malignant_melanoma | Substitution - coding silent |
c.862C>T; p.R288C; 9:127824929-127824929 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.444G>T; p.E148D; 9:127826589-127826589 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.213C>T; p.F71F; 9:127843100-127843100 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1133C>T; p.A378V; 9:127824305-127824305 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1426C>T; p.Q476*; 9:127818718-127818718 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.250G>A; p.A84T; 9:127829797-127829797 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.174C>T; p.P58P; 9:127843139-127843139 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.250G>A; p.A84T; 9:127829797-127829797 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.174C>T; p.P58P; 9:127843139-127843139 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.981C>T; p.A327A; 9:127824810-127824810 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1806C>T; p.I602I; 9:127815989-127815989 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.309C>T; p.S103S; 9:127829738-127829738 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1515A>G; p.E505E; 9:127818291-127818291 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1819A>G; p.T607A; 9:127815976-127815976 |
skin | malignant_melanoma | Substitution - Missense |
c.991G>A; p.G331S; 9:127824800-127824800 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.208G>T; p.E70*; 9:127843105-127843105 |
breast | carcinoma | Substitution - Nonsense |
c.360+1G>A; p.?; 9:127829686-127829686 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.207G>A; p.L69L; 9:127843106-127843106 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1645T>A; p.C549S; 9:127818161-127818161 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1645T>A; p.C549S; 9:127818161-127818161 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.572G>A; p.G191D; 9:127825812-127825812 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.G245R; 9:127825314-127825314 |
prostate | carcinoma | Substitution - Missense |