Entrez Gene

Basic Information
Gene ID	4093
Name	SMAD9
Synonymous	SMAD family member 9;SMAD9;SMAD family member 9
Definition	MAD homolog 9\|Mothers against decapentaplegic, drosophila, homolog of, 9\|SMAD, mothers against DPP homolog 9\|mothers against decapentaplegic homolog 9
Position	13q12-q14
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.315C>T; p.H105H; 13:36879375-36879375	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.250C>T; p.R84C; 13:36879440-36879440	breast	carcinoma	Substitution - Missense
c.250C>T; p.R84C; 13:36879440-36879440	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1101C>T; p.V367V; 13:36853467-36853467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.209C>T; p.T70M; 13:36879481-36879481	pancreas	carcinoma	Substitution - Missense
c.297G>A; p.P99P; 13:36879393-36879393	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1101C>T; p.V367V; 13:36853467-36853467	skin	malignant_melanoma	Substitution - coding silent
c.145A>G; p.K49E; 13:36879545-36879545	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.823T>G; p.C275G; 13:36865606-36865606	skin	malignant_melanoma	Substitution - Missense
c.968G>A; p.R323Q; 13:36853600-36853600	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.539C>T; p.S180F; 13:36872789-36872789	skin	malignant_melanoma	Substitution - Missense
c.1108G>T; p.E370*; 13:36853460-36853460	ovary	other; neoplasm	Substitution - Nonsense
c.568C>T; p.P190S; 13:36872760-36872760	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.289C>T; p.R97C; 13:36879401-36879401	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.109G>A; p.A37T; 13:36879581-36879581	skin	malignant_melanoma	Substitution - Missense
c.1237G>C; p.D413H; 13:36848732-36848732	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.289C>T; p.R97C; 13:36879401-36879401	thyroid	carcinoma	Substitution - Missense
c.289C>T; p.R97C; 13:36879401-36879401	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.998C>T; p.P333L; 13:36853570-36853570	skin	malignant_melanoma	Substitution - Missense
c.647C>T; p.P216L; 13:36872681-36872681	skin	malignant_melanoma	Substitution - Missense
c.1059C>T; p.F353F; 13:36853509-36853509	skin	malignant_melanoma	Substitution - coding silent
c.1059C>T; p.F353F; 13:36853509-36853509	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.42C>T; p.T14T; 13:36879648-36879648	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.690C>T; p.Y230Y; 13:36865739-36865739	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.289C>A; p.R97S; 13:36879401-36879401	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.257G>T; p.G86V; 13:36879433-36879433	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.555G>A; p.P185P; 13:36872773-36872773	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.555G>A; p.P185P; 13:36872773-36872773	pancreas	carcinoma	Substitution - coding silent
c.555G>A; p.P185P; 13:36872773-36872773	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.936C>T; p.C312C; 13:36853632-36853632	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.374G>A; p.C125Y; 13:36879316-36879316	breast	carcinoma	Substitution - Missense
c.352G>T; p.G118C; 13:36879338-36879338	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.796G>A; p.D266N; 13:36865633-36865633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.281G>A; p.R94H; 13:36879409-36879409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.714G>A; p.S238S; 13:36865715-36865715	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.632G>A; p.G211E; 13:36872696-36872696	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.937G>A; p.V313M; 13:36853631-36853631	central_nervous_system; brain	glioma	Substitution - Missense
c.937G>A; p.V313M; 13:36853631-36853631	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1034T>C; p.L345P; 13:36853534-36853534	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.769C>T; p.R257*; 13:36865660-36865660	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1184C>T; p.T395I; 13:36848785-36848785	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.8C>T; p.S3F; 13:36879682-36879682	skin	malignant_melanoma	Substitution - Missense
c.343T>C; p.F115L; 13:36879347-36879347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.520A>C; p.N174H; 13:36872808-36872808	liver	carcinoma	Substitution - Missense
c.520A>C; p.N174H; 13:36872808-36872808	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.520A>C; p.N174H; 13:36872808-36872808	liver	carcinoma	Substitution - Missense
c.214C>T; p.P72S; 13:36879476-36879476	skin	malignant_melanoma	Substitution - Missense
c.445G>A; p.E149K; 13:36872883-36872883	skin	malignant_melanoma	Substitution - Missense
c.282C>T; p.R94R; 13:36879408-36879408	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.30C>A; p.L10L; 13:36879660-36879660	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.283G>A; p.V95M; 13:36879407-36879407	large_intestine; colon	NS	Substitution - Missense
c.301C>T; p.L101L; 13:36879389-36879389	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.283G>A; p.V95M; 13:36879407-36879407	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.655C>T; p.P219S; 13:36872673-36872673	skin	malignant_melanoma	Substitution - Missense
c.336C>A; p.C112*; 13:36879354-36879354	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.228C>T; p.D76D; 13:36879462-36879462	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.228C>T; p.D76D; 13:36879462-36879462	pancreas	carcinoma	Substitution - coding silent
c.210G>A; p.T70T; 13:36879480-36879480	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.210G>A; p.T70T; 13:36879480-36879480	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1134G>A; p.R378R; 13:36853434-36853434	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1081G>C; p.V361L; 13:36853487-36853487	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.947G>C; p.S316T; 13:36853621-36853621	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.600C>T; p.S200S; 13:36872728-36872728	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.217delC; p.R73fs*18; 13:36879473-36879473	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.172G>A; p.A58T; 13:36879518-36879518	liver	carcinoma	Substitution - Missense
c.172G>A; p.A58T; 13:36879518-36879518	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.765C>T; p.S255S; 13:36865664-36865664	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.79G>A; p.G27R; 13:36879611-36879611	skin	malignant_melanoma	Substitution - Missense
c.535G>T; p.D179Y; 13:36872793-36872793	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.54G>A; p.V18V; 13:36879636-36879636	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.535G>T; p.D179Y; 13:36872793-36872793	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.860C>T; p.T287M; 13:36865569-36865569	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.840T>C; p.S280S; 13:36865589-36865589	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.185C>T; p.P62L; 13:36879505-36879505	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.987C>G; p.H329Q; 13:36853581-36853581	oesophagus	carcinoma	Substitution - Missense
c.49G>A; p.A17T; 13:36879641-36879641	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.A17T; 13:36879641-36879641	breast	carcinoma	Substitution - Missense
c.1063C>G; p.Q355E; 13:36853505-36853505	oesophagus	carcinoma	Substitution - Missense
c.176_177delTC; p.L59fs*55; 13:36879513-36879514	salivary_gland; mouth_roof	carcinoma; adenoid_cystic_carcinoma	Deletion - Frameshift
c.967C>T; p.R323W; 13:36853601-36853601	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.757C>T; p.Q253*; 13:36865672-36865672	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.411A>G; p.P137P; 13:36879279-36879279	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.288G>T; p.W96C; 13:36879402-36879402	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.476A>G; p.K159R; 13:36872852-36872852	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.912C>T; p.V304V; 13:36853656-36853656	stomach	adenocarcinoma	Substitution - coding silent
c.482G>A; p.R161H; 13:36872846-36872846	breast	carcinoma	Substitution - Missense
c.1046A>G; p.N349S; 13:36853522-36853522	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1221G>A; p.G407G; 13:36848748-36848748	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.396C>T; p.R132R; 13:36879294-36879294	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.327G>A; p.P109P; 13:36879363-36879363	pancreas	carcinoma	Substitution - coding silent
c.575C>T; p.S192L; 13:36872753-36872753	skin; trunk	malignant_melanoma	Substitution - Missense
c.602C>T; p.P201L; 13:36872726-36872726	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.790T>C; p.F264L; 13:36865639-36865639	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.35C>T; p.S12F; 13:36879655-36879655	skin	malignant_melanoma	Substitution - Missense
c.1038G>T; p.K346N; 13:36853530-36853530	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1038G>T; p.K346N; 13:36853530-36853530	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1038G>T; p.K346N; 13:36853530-36853530	large_intestine; colon	carcinoma	Substitution - Missense
c.251G>A; p.R84H; 13:36879439-36879439	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1038G>T; p.K346N; 13:36853530-36853530	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.26C>T; p.S9F; 13:36879664-36879664	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.341A>T; p.E114V; 13:36879349-36879349	stomach	adenocarcinoma	Substitution - Missense
c.523G>A; p.A175T; 13:36872805-36872805	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.345C>T; p.F115F; 13:36879345-36879345	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.47C>T; p.P16L; 13:36879643-36879643	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.567C>T; p.L189L; 13:36872761-36872761	skin	malignant_melanoma	Substitution - coding silent
c.826C>A; p.L276I; 13:36865603-36865603	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.623A>G; p.H208R; 13:36872705-36872705	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.670G>T; p.D224Y; 13:36872658-36872658	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1246C>G; p.L416V; 13:36848723-36848723	urinary_tract; bladder	carcinoma	Substitution - Missense
c.454C>T; p.P152S; 13:36872874-36872874	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1014G>T; p.K338N; 13:36853554-36853554	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.991T>G; p.F331V; 13:36853577-36853577	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.803C>G; p.S268*; 13:36865626-36865626	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.83A>G; p.D28G; 13:36879607-36879607	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1060G>A; p.A354T; 13:36853508-36853508	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1164G>T; p.E388D; 13:36848805-36848805	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.40A>T; p.T14S; 13:36879650-36879650	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.713C>T; p.S238L; 13:36865716-36865716	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.713C>T; p.S238L; 13:36865716-36865716	thyroid	other; neoplasm	Substitution - Missense
c.739C>A; p.R247R; 13:36865690-36865690	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.713C>T; p.S238L; 13:36865716-36865716	NS	malignant_melanoma	Substitution - Missense
c.1091G>A; p.G364D; 13:36853477-36853477	skin	malignant_melanoma	Substitution - Missense
c.264C>T; p.P88P; 13:36879426-36879426	skin	malignant_melanoma	Substitution - coding silent
c.876G>A; p.R292R; 13:36865553-36865553	pancreas	carcinoma	Substitution - coding silent
c.280C>T; p.R94C; 13:36879410-36879410	pancreas	carcinoma	Substitution - Missense
c.280C>T; p.R94C; 13:36879410-36879410	skin	malignant_melanoma	Substitution - Missense
c.928G>T; p.A310S; 13:36853640-36853640	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.514C>T; p.P172S; 13:36872814-36872814	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.770G>A; p.R257Q; 13:36865659-36865659	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.91G>A; p.E31K; 13:36879599-36879599	skin	malignant_melanoma	Substitution - Missense
c.165G>A; p.L55L; 13:36879525-36879525	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.901T>G; p.L301V; 13:36853667-36853667	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.229G>A; p.G77R; 13:36879461-36879461	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.652_653delAG; p.P219fs*24; 13:36872675-36872676	central_nervous_system; brainstem	glioma; oligoastrocytoma_Grade_III	Deletion - Frameshift
c.423T>A; p.P141P; 13:36872905-36872905	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.676C>T; p.R226*; 13:36865753-36865753	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.676C>T; p.R226*; 13:36865753-36865753	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense

COSMIC somatic mutation [Top]