| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
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|---|---|
Gene ID | 7056 |
Name | THBD |
Synonymous | thrombomodulin;THBD;thrombomodulin |
Definition | CD141 antigen|fetomodulin |
Position | 20p11.2 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
 |
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Loss of Function mutations compare to missense mutations | Top |
 |
| The ratio of the loss-of-function mutations over missense mutations is 0.05. |
The copy number variations for various cancers | Top |
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The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
|
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
|---|---|---|---|
c.849C>T; p.S283S; 20:23048656-23048656 |
pancreas | carcinoma | Substitution - coding silent |
c.1166T>C; p.V389A; 20:23048339-23048339 |
skin; leg | malignant_melanoma | Substitution - Missense |
c.1449C>A; p.G483G; 20:23048056-23048056 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.220C>T; p.L74L; 20:23049285-23049285 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1127A>G; p.Y376C; 20:23048378-23048378 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.370C>T; p.R124W; 20:23049135-23049135 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1183G>A; p.A395T; 20:23048322-23048322 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.610T>C; p.F204L; 20:23048895-23048895 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.1081G>A; p.E361K; 20:23048424-23048424 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.376G>A; p.D126N; 20:23049129-23049129 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1093C>A; p.P365T; 20:23048412-23048412 |
breast | carcinoma | Substitution - Missense |
c.1374C>T; p.L458L; 20:23048131-23048131 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1447G>A; p.G483S; 20:23048058-23048058 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1447G>A; p.G483S; 20:23048058-23048058 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1664C>T; p.A555V; 20:23047841-23047841 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1664C>T; p.A555V; 20:23047841-23047841 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1664C>T; p.A555V; 20:23047841-23047841 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.930C>T; p.C310C; 20:23048575-23048575 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.598C>T; p.R200C; 20:23048907-23048907 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1080C>T; p.G360G; 20:23048425-23048425 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.765G>A; p.A255A; 20:23048740-23048740 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.765G>A; p.A255A; 20:23048740-23048740 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.765G>A; p.A255A; 20:23048740-23048740 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1662C>T; p.C554C; 20:23047843-23047843 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1662C>T; p.C554C; 20:23047843-23047843 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1662C>T; p.C554C; 20:23047843-23047843 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1662C>T; p.C554C; 20:23047843-23047843 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1662C>T; p.C554C; 20:23047843-23047843 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1662C>T; p.C554C; 20:23047843-23047843 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.371G>T; p.R124L; 20:23049134-23049134 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1402C>T; p.P468S; 20:23048103-23048103 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.517G>A; p.A173T; 20:23048988-23048988 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>A; p.A173T; 20:23048988-23048988 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>A; p.A173T; 20:23048988-23048988 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1203G>A; p.P401P; 20:23048302-23048302 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1203G>A; p.P401P; 20:23048302-23048302 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1203G>A; p.P401P; 20:23048302-23048302 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.452C>T; p.P151L; 20:23049053-23049053 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1004C>T; p.P335L; 20:23048501-23048501 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.855G>A; p.T285T; 20:23048650-23048650 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.855G>A; p.T285T; 20:23048650-23048650 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.855G>A; p.T285T; 20:23048650-23048650 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1452G>T; p.K484N; 20:23048053-23048053 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.872T>C; p.L291P; 20:23048633-23048633 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.391C>T; p.P131S; 20:23049114-23049114 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.947T>C; p.L316P; 20:23048558-23048558 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.901G>A; p.D301N; 20:23048604-23048604 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1632C>T; p.G544G; 20:23047873-23047873 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.515C>T; p.P172L; 20:23048990-23048990 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1311C>T; p.F437F; 20:23048194-23048194 |
skin | malignant_melanoma | Substitution - coding silent |
c.228C>A; p.N76K; 20:23049277-23049277 |
pancreas | carcinoma | Substitution - Missense |
c.61G>A; p.A21T; 20:23049444-23049444 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.182C>T; p.T61I; 20:23049323-23049323 |
skin | malignant_melanoma | Substitution - Missense |
c.1077C>T; p.D359D; 20:23048428-23048428 |
skin | malignant_melanoma | Substitution - coding silent |
c.1343G>A; p.G448D; 20:23048162-23048162 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1005G>A; p.P335P; 20:23048500-23048500 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1362G>A; p.V454V; 20:23048143-23048143 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.385G>T; p.G129W; 20:23049120-23049120 |
pancreas | carcinoma | Substitution - Missense |
c.1302C>A; p.D434E; 20:23048203-23048203 |
skin | malignant_melanoma | Substitution - Missense |
c.933G>T; p.E311D; 20:23048572-23048572 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.1109delT; p.F370fs*12; 20:23048396-23048396 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.1498A>G; p.T500A; 20:23048007-23048007 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1275T>A; p.C425*; 20:23048230-23048230 |
large_intestine; colon | carcinoma | Substitution - Nonsense |
c.912C>T; p.G304G; 20:23048593-23048593 |
skin | malignant_melanoma | Substitution - coding silent |
c.1565C>T; p.S522F; 20:23047940-23047940 |
skin | malignant_melanoma | Substitution - Missense |
c.1434C>T; p.T478T; 20:23048071-23048071 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.129G>C; p.A43A; 20:23049376-23049376 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.507C>A; p.F169L; 20:23048998-23048998 |
thyroid | other; neoplasm | Substitution - Missense |
c.577T>C; p.Y193H; 20:23048928-23048928 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.577T>A; p.Y193N; 20:23048928-23048928 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1470C>T; p.S490S; 20:23048035-23048035 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.342_343delCA; p.D114fs*6; 20:23049162-23049163 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.239G>A; p.G80D; 20:23049266-23049266 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.681G>A; p.P227P; 20:23048824-23048824 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.453G>A; p.P151P; 20:23049052-23049052 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.934A>G; p.T312A; 20:23048571-23048571 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.934A>G; p.T312A; 20:23048571-23048571 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.840C>T; p.C280C; 20:23048665-23048665 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1079G>A; p.G360D; 20:23048426-23048426 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.888C>T; p.C296C; 20:23048617-23048617 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1721G>A; p.R574K; 20:23047784-23047784 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.128C>T; p.A43V; 20:23049377-23049377 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1181T>C; p.F394S; 20:23048324-23048324 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.852G>A; p.A284A; 20:23048653-23048653 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.852G>A; p.A284A; 20:23048653-23048653 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1410G>A; p.S470S; 20:23048095-23048095 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1185G>A; p.A395A; 20:23048320-23048320 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.772G>A; p.A258T; 20:23048733-23048733 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.68C>T; p.P23L; 20:23049437-23049437 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
liver | carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
thyroid | other; neoplasm | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>G; p.S149R; 20:23049058-23049058 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1344C>T; p.G448G; 20:23048161-23048161 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |