| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 4086 |
Name | SMAD1 |
Synonymous | SMAD family member 1;SMAD1;SMAD family member 1 |
Definition | MAD homolog 1|MAD, mothers against decapentaplegic homolog 1|Mad-related protein 1|SMAD, mothers against DPP homolog 1|TGF-beta signaling protein 1|mothers against DPP homolog 1|mothers against decapentaplegic homolog 1|transforming growth factor-beta sig |
Position | 4q31 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.548C>T; p.P183L; 4:145539951-145539951 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.453C>T; p.S151S; 4:145539856-145539856 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.44A>G; p.K15R; 4:145514657-145514657 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.569G>C; p.S190T; 4:145539972-145539972 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.775G>A; p.D259N; 4:145542698-145542698 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1035C>T; p.A345A; 4:145553821-145553821 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.904C>T; p.P302S; 4:145546831-145546831 |
skin | malignant_melanoma | Substitution - Missense |
c.844C>T; p.R282C; 4:145546771-145546771 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.562C>T; p.P188S; 4:145539965-145539965 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.103G>A; p.D35N; 4:145514716-145514716 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.707A>G; p.Q236R; 4:145542630-145542630 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.239G>A; p.R80Q; 4:145514852-145514852 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.776-1G>C; p.?; 4:145546702-145546702 |
lung | carcinoma; adenocarcinoma | Unknown |
c.167G>A; p.S56N; 4:145514780-145514780 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.464A>C; p.Q155P; 4:145539867-145539867 |
prostate | carcinoma | Substitution - Missense |
c.726G>T; p.M242I; 4:145542649-145542649 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.386G>A; p.R129K; 4:145514999-145514999 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1066C>T; p.Q356*; 4:145553852-145553852 |
skin | malignant_melanoma | Substitution - Nonsense |
c.839A>G; p.N280S; 4:145546766-145546766 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.302A>G; p.H101R; 4:145514915-145514915 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.590G>T; p.G197V; 4:145539993-145539993 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.613C>T; p.H205Y; 4:145540016-145540016 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.918G>C; p.K306N; 4:145546845-145546845 |
breast | carcinoma | Substitution - Missense |
c.870C>T; p.S290S; 4:145546797-145546797 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.649C>T; p.Q217*; 4:145540052-145540052 |
skin | malignant_melanoma | Substitution - Nonsense |
c.245G>C; p.G82A; 4:145514858-145514858 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.857C>T; p.A286V; 4:145546784-145546784 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1329C>T; p.P443P; 4:145557865-145557865 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1310A>C; p.E437A; 4:145557846-145557846 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.400+1G>A; p.?; 4:145515014-145515014 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.115A>G; p.K39E; 4:145514728-145514728 |
skin | malignant_melanoma | Substitution - Missense |
c.278G>A; p.R93H; 4:145514891-145514891 |
prostate | carcinoma | Substitution - Missense |
c.1315C>A; p.H439N; 4:145557851-145557851 |
small_intestine | carcinoid-endocrine_tumour | Substitution - Missense |
c.267C>T; p.C89C; 4:145514880-145514880 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.666G>A; p.T222T; 4:145542589-145542589 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.165G>C; p.L55F; 4:145514778-145514778 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1324G>T; p.G442C; 4:145557860-145557860 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.776-1G>T; p.?; 4:145546702-145546702 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.743C>T; p.A248V; 4:145542666-145542666 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.433G>A; p.E145K; 4:145539836-145539836 |
skin | malignant_melanoma | Substitution - Missense |
c.828C>T; p.Y276Y; 4:145546755-145546755 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.777T>A; p.D259E; 4:145546704-145546704 |
oesophagus | carcinoma | Substitution - Missense |
c.182C>T; p.P61L; 4:145514795-145514795 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.956G>A; p.R319Q; 4:145546883-145546883 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.153G>A; p.L51L; 4:145514766-145514766 |
bone; pelvis | chondrosarcoma | Substitution - coding silent |
c.470G>A; p.R157H; 4:145539873-145539873 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.825C>G; p.V275V; 4:145546752-145546752 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1092T>A; p.H364Q; 4:145553878-145553878 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.380A>G; p.Y127C; 4:145514993-145514993 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.437A>G; p.Y146C; 4:145539840-145539840 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.442_443CC>TT; p.P148F; 4:145539845-145539846 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1237C>T; p.R413C; 4:145554023-145554023 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1226T>C; p.M409T; 4:145554012-145554012 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1034C>T; p.A345V; 4:145553820-145553820 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.937C>T; p.L313L; 4:145546864-145546864 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.858G>A; p.A286A; 4:145546785-145546785 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1332C>T; p.L444L; 4:145557868-145557868 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1260G>C; p.W420C; 4:145557796-145557796 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1036G>T; p.E346*; 4:145553822-145553822 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1011T>C; p.Y337Y; 4:145553797-145553797 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1011T>C; p.Y337Y; 4:145553797-145553797 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.770G>A; p.R257K; 4:145542693-145542693 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.120A>G; p.K40K; 4:145514733-145514733 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.770G>A; p.R257K; 4:145542693-145542693 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.770G>A; p.R257K; 4:145542693-145542693 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.770G>A; p.R257K; 4:145542693-145542693 |
skin | malignant_melanoma | Substitution - Missense |
c.1318C>G; p.L440V; 4:145557854-145557854 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.400+1G>T; p.?; 4:145515014-145515014 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1334A>T; p.Q445L; 4:145557870-145557870 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1209C>T; p.V403V; 4:145553995-145553995 |
breast | carcinoma | Substitution - coding silent |
c.430A>G; p.S144G; 4:145539833-145539833 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1281G>A; p.Q427Q; 4:145557817-145557817 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.662A>G; p.D221G; 4:145542585-145542585 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.694G>C; p.D232H; 4:145542617-145542617 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1146T>G; p.I382M; 4:145553932-145553932 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.76G>A; p.E26K; 4:145514689-145514689 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.508G>A; p.A170T; 4:145539911-145539911 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.538A>C; p.N180H; 4:145539941-145539941 |
liver | carcinoma | Substitution - Missense |
c.1003C>A; p.H335N; 4:145553789-145553789 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.115delA; p.K40fs*2; 4:145514728-145514728 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.472A>G; p.N158D; 4:145539875-145539875 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.69C>T; p.G23G; 4:145514682-145514682 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.69C>T; p.G23G; 4:145514682-145514682 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.114_115insA; p.L41fs*23; 4:145514727-145514728 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |