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| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 4089 |
Name | SMAD4 |
Synonymous | DPC4|JIP|MADH4;SMAD family member 4;SMAD4;SMAD family member 4 |
Definition | MAD homolog 4|SMAD, mothers against DPP homolog 4|deleted in pancreatic carcinoma locus 4|deletion target in pancreatic carcinoma 4|mothers against decapentaplegic homolog 4|mothers against decapentaplegic, Drosophila, homolog of, 4 |
Position | 18q21.1 |
Gene Type | protein-coding |
Gene Mutation: | Substitution Insertion & Deletion Other Mutation |
Substitution | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Substitution - coding silent; c.153A>G; 18:46827567-46827567 |
ovary | serous_carcinoma; carcinoma |
Substitution - coding silent; c.1011G>A; 18:46845846-46845846 |
pancreas | dysplasia-in_situ_neoplasm; other |
Substitution - coding silent; c.924T>C; 18:46840253-46840253 |
thyroid | adenoma-nodule-goitre |
Substitution - coding silent; c.1482C>T; 18:46858658-46858658 |
thyroid | papillary_carcinoma; carcinoma |
Indel | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Deletion - Frameshift; c.1543delA; 18:46858719-46858719 |
pancreas | ductal_carcinoma; carcinoma |
Deletion - Frameshift; c.1583_1586delACTT; 18:46858759-46858762 |
pancreas | non_functioning; carcinoid-endocrine_tumour |
Deletion - Frameshift; c.378_379delCT; 18:46829182-46829183 |
vulva | squamous_cell_carcinoma; carcinoma |
Deletion - In frame; c.1123_1134del12; 18:46845958-46845969 |
large_intestine | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1606_1612delCTAGACG; 18:46858782-46858788 |
lung | carcinoid-endocrine_tumour |
Deletion - In frame; c.1015_1029del15; 18:46845850-46845864 |
large_intestine | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1341_1365del25; 18:46857038-46857062 |
large_intestine | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.776_777delCT; 18:46838601-46838602 |
pancreas | ductal_carcinoma; carcinoma |
Deletion - Frameshift; c.1546_1553delCAGAGCAT; 18:46858722-46858729 |
pancreas | ductal_carcinoma; carcinoma |
Deletion - Frameshift; c.607_608delCC; 18:46835301-46835302 |
lung | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1134_1135delAG; 18:46845969-46845970 |
large_intestine; rectum | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.978delT; 18:46845813-46845813 |
large_intestine | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.585delC; 18:46835279-46835279 |
pancreas | ductal_carcinoma; carcinoma |
Deletion - Frameshift; c.1600delC; |
pancreas | NS |
Deletion - Frameshift; c.314_317delACAA; |
pancreas | NS |
Deletion - Frameshift; c.804delG; |
pancreas | NS |
Deletion - Frameshift; c.1546_1553delCAGAGCAT; 18:46858722-46858729 |
pancreas | ductal_carcinoma; carcinoma |
Deletion - Frameshift; c.1607_1626del20; 18:46858783-46858802 |
large_intestine; colon | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1320_1377del58; 18:46857017-46857074 |
pancreas | ductal_carcinoma; carcinoma |
Deletion - Frameshift; c.484_485delTA; 18:46835178-46835179 |
pancreas | ductal_carcinoma; carcinoma |
Deletion - In frame; c.1015_1029del15; 18:46845850-46845864 |
large_intestine | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1349_1376del28; 18:46857046-46857073 |
large_intestine | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1548_1555delGAGCATCA; |
pancreas | NS |
Deletion - Frameshift; c.1341_1365del25; 18:46857038-46857062 |
large_intestine | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.968_974delGGTGTTC; 18:46845803-46845809 |
small_intestine; jejunum | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.776_777delCT; 18:46838601-46838602 |
n; pancreas | ductal_carcinoma; carcinoma |
Other Mutation | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
large_intestine; colon | carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Complex - compound substitutio; c.1049_1051TTG>ATA; 18:46845884-46845886 |
small_intestine; jejunum | adenocarcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
breast | carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
breast | carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
large_intestine | adenocarcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
stomach | adenocarcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Complex - frameshift; c.121_135>A; 18:46827535-46827549 |
oesophagus | carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
breast | carcinoma |
Whole gene deletion; c.?; |
large_intestine; colon; sigmoid | adenocarcinoma; carcinoma |
Whole gene deletion; c.?; |
large_intestine; rectum | adenocarcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
oesophagus | adenocarcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
upper_aerodigestive_tract; pharynx; hypopharynx | squamous_cell_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
lung | non_small_cell_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
lung | non_small_cell_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
stomach | adenocarcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.1_1659del1659; 18:46827415-46858835 |
pancreas | ductal_carcinoma; carcinoma |
Whole gene deletion; c.?; |
large_intestine; colon; left | adenocarcinoma; carcinoma |