| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 4092 |
Name | SMAD7 |
Synonymous | SMAD family member 7;SMAD7;SMAD family member 7 |
Definition | MAD (mothers against decapentaplegic, Drosophila) homolog 7|MAD homolog 8|Mothers against decapentaplegic, drosophila, homolog of, 7|SMAD, mothers against DPP homolog 7|hSMAD7|mothers against DPP homolog 8|mothers against decapentaplegic homolog 7 |
Position | 18q21.1 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.714G>A; p.T238T; 18:48942509-48942509 |
skin | malignant_melanoma | Substitution - coding silent |
c.1173G>A; p.T391T; 18:48921480-48921480 |
skin | malignant_melanoma | Substitution - coding silent |
c.1136G>A; p.R379Q; 18:48921517-48921517 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1207T>G; p.W403G; 18:48921446-48921446 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1207T>G; p.W403G; 18:48921446-48921446 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1207T>G; p.W403G; 18:48921446-48921446 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1207T>G; p.W403G; 18:48921446-48921446 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.971C>T; p.T324M; 18:48921682-48921682 |
prostate | carcinoma | Substitution - Missense |
c.480C>A; p.C160*; 18:48949945-48949945 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.717T>A; p.N239K; 18:48942506-48942506 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.545C>G; p.S182C; 18:48949880-48949880 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.813G>A; p.T271T; 18:48921840-48921840 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1050_1051GG>TT; p.D351Y; 18:48921602-48921603 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1212C>T; p.G404G; 18:48921441-48921441 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.578G>A; p.C193Y; 18:48949847-48949847 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.432G>A; p.A144A; 18:48949993-48949993 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.786C>T; p.C262C; 18:48921867-48921867 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.624C>A; p.P208P; 18:48948427-48948427 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1069G>A; p.V357I; 18:48921584-48921584 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.618T>C; p.S206S; 18:48948433-48948433 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.626delC; p.P209fs*115; 18:48948425-48948425 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.626delC; p.P209fs*115; 18:48948425-48948425 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.626delC; p.P209fs*115; 18:48948425-48948425 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1121C>T; p.A374V; 18:48921532-48921532 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1273_1274insC; p.S425fs*>3; 18:48921379-48921380 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Insertion - Frameshift |
c.1222A>C; p.T408P; 18:48921431-48921431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1222A>C; p.T408P; 18:48921431-48921431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1222A>C; p.T408P; 18:48921431-48921431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1222A>C; p.T408P; 18:48921431-48921431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1222A>C; p.T408P; 18:48921431-48921431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1222A>C; p.T408P; 18:48921431-48921431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1222A>C; p.T408P; 18:48921431-48921431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1222A>C; p.T408P; 18:48921431-48921431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1222A>C; p.T408P; 18:48921431-48921431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1222A>C; p.T408P; 18:48921431-48921431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1222A>C; p.T408P; 18:48921431-48921431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1222A>C; p.T408P; 18:48921431-48921431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1222A>C; p.T408P; 18:48921431-48921431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1222A>C; p.T408P; 18:48921431-48921431 |
thyroid | other; neoplasm | Substitution - Missense |
c.1222A>C; p.T408P; 18:48921431-48921431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1222A>C; p.T408P; 18:48921431-48921431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1222A>C; p.T408P; 18:48921431-48921431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1222A>C; p.T408P; 18:48921431-48921431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1222A>C; p.T408P; 18:48921431-48921431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1222A>C; p.T408P; 18:48921431-48921431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.636C>T; p.S212S; 18:48948415-48948415 |
skin | malignant_melanoma | Substitution - coding silent |
c.957C>A; p.C319*; 18:48921696-48921696 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.626_627insC; p.P210fs*25; 18:48948424-48948425 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.626_627insC; p.P210fs*25; 18:48948424-48948425 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.626_627insC; p.P210fs*25; 18:48948424-48948425 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1181C>T; p.T394I; 18:48921472-48921472 |
skin | malignant_melanoma | Substitution - Missense |
c.1181C>T; p.T394I; 18:48921472-48921472 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1181C>T; p.T394I; 18:48921472-48921472 |
skin | malignant_melanoma | Substitution - Missense |
c.985G>A; p.G329S; 18:48921668-48921668 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.629C>G; p.P210R; 18:48948422-48948422 |
liver | carcinoma | Substitution - Missense |
c.629C>G; p.P210R; 18:48948422-48948422 |
liver | carcinoma | Substitution - Missense |
c.787G>A; p.V263M; 18:48921866-48921866 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.693C>T; p.S231S; 18:48942530-48942530 |
skin | malignant_melanoma | Substitution - coding silent |
c.1032C>T; p.S344S; 18:48921621-48921621 |
skin | malignant_melanoma | Substitution - coding silent |
c.568C>T; p.L190L; 18:48949857-48949857 |
ovary | other; neoplasm | Substitution - coding silent |
c.1150G>A; p.E384K; 18:48921503-48921503 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.765T>C; p.P255P; 18:48921888-48921888 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.930G>A; p.V310V; 18:48921723-48921723 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1004G>A; p.R335H; 18:48921649-48921649 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1004G>A; p.R335H; 18:48921649-48921649 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.941G>A; p.R314Q; 18:48921712-48921712 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.336C>T; p.L112L; 18:48950089-48950089 |
pancreas | carcinoma | Substitution - coding silent |
c.1177T>A; p.F393I; 18:48921476-48921476 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.667G>T; p.A223S; 18:48948384-48948384 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.565G>T; p.E189*; 18:48949860-48949860 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.135C>T; p.S45S; 18:48950290-48950290 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.667+8G>A; p.?; 18:48948376-48948376 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |