| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 5414 |
Name | SEPT4 |
Synonymous | septin 4;SEPT4;septin 4 |
Definition | CE5B3 beta|apoptosis-related protein in the TGF-beta signaling pathway|bradeion beta|brain protein H5|cell division control-related protein 2|cerebral protein 7|peanut-like protein 2|septin-4|septin-M |
Position | 17q22 |
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 |
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| The ratio of the loss-of-function mutations over missense mutations is 0.06. |
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.841C>T; p.R281W; 17:58521810-58521810 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.245C>T; p.S82L; 17:58526794-58526794 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1108G>A; p.V370M; 17:58521260-58521260 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1108G>A; p.V370M; 17:58521260-58521260 |
pancreas | carcinoma | Substitution - Missense |
c.1074G>A; p.R358R; 17:58521294-58521294 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1108G>A; p.V370M; 17:58521260-58521260 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.59G>T; p.G20V; 17:58529116-58529116 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1402C>A; p.H468N; 17:58520461-58520461 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.93T>C; p.D31D; 17:58526946-58526946 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.971A>G; p.D324G; 17:58521591-58521591 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.517C>G; p.R173G; 17:58525716-58525716 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.82A>C; p.T28P; 17:58526957-58526957 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.897G>A; p.V299V; 17:58521754-58521754 |
skin | malignant_melanoma | Substitution - coding silent |
c.81C>G; p.D27E; 17:58526958-58526958 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1026C>T; p.I342I; 17:58521342-58521342 |
skin | malignant_melanoma | Substitution - coding silent |
c.759G>T; p.V253V; 17:58522005-58522005 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.111C>T; p.F37F; 17:58526928-58526928 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.111C>T; p.F37F; 17:58526928-58526928 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1323C>T; p.V441V; 17:58520797-58520797 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1223G>T; p.R408L; 17:58521052-58521052 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.67C>T; p.R23C; 17:58526972-58526972 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.523C>A; p.L175I; 17:58525710-58525710 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.26G>A; p.G9E; 17:58529149-58529149 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1134C>A; p.C378*; 17:58521141-58521141 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1277A>G; p.N426S; 17:58520998-58520998 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.239_240insTCAGACC; p.P81fs*10; 17:58526799-58526800 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1381C>T; p.R461W; 17:58520482-58520482 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.249G>A; p.R83R; 17:58526790-58526790 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.610C>T; p.L204F; 17:58525130-58525130 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.729G>T; p.L243L; 17:58522035-58522035 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.247C>T; p.R83W; 17:58526792-58526792 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.563T>A; p.I188N; 17:58525177-58525177 |
liver | carcinoma | Substitution - Missense |
c.881T>A; p.L294Q; 17:58521770-58521770 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.932A>T; p.E311V; 17:58521630-58521630 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.317G>A; p.R106H; 17:58526722-58526722 |
breast | carcinoma | Substitution - Missense |
c.1062G>T; p.E354D; 17:58521306-58521306 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.298A>G; p.S100G; 17:58526741-58526741 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.859A>G; p.I287V; 17:58521792-58521792 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1034C>T; p.A345V; 17:58521334-58521334 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.790G>A; p.G264S; 17:58521974-58521974 |
skin | malignant_melanoma | Substitution - Missense |
c.722G>T; p.S241I; 17:58522042-58522042 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.293C>T; p.P98L; 17:58526746-58526746 |
skin | malignant_melanoma | Substitution - Missense |
c.1171C>A; p.H391N; 17:58521104-58521104 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.948G>T; p.K316N; 17:58521614-58521614 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.273G>T; p.Q91H; 17:58526766-58526766 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1166G>A; p.R389H; 17:58521109-58521109 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.350C>T; p.S117F; 17:58526689-58526689 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1227A>G; p.A409A; 17:58521048-58521048 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1072C>T; p.R358W; 17:58521296-58521296 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.717C>T; p.D239D; 17:58522047-58522047 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.805C>T; p.P269S; 17:58521846-58521846 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.467G>A; p.G156D; 17:58525766-58525766 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.123C>T; p.F41F; 17:58526916-58526916 |
skin | malignant_melanoma | Substitution - coding silent |
c.279C>A; p.F93L; 17:58526760-58526760 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1124C>G; p.P375R; 17:58521151-58521151 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.513G>T; p.R171R; 17:58525720-58525720 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.946A>C; p.K316Q; 17:58521616-58521616 |
skin | malignant_melanoma | Substitution - Missense |
c.40G>A; p.E14K; 17:58529135-58529135 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1087C>T; p.R363*; 17:58521281-58521281 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1288C>T; p.R430W; 17:58520832-58520832 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1283T>G; p.L428R; 17:58520837-58520837 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.744C>T; p.I248I; 17:58522020-58522020 |
skin | malignant_melanoma | Substitution - coding silent |
c.1081C>T; p.R361W; 17:58521287-58521287 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361W; 17:58521287-58521287 |
skin | malignant_melanoma | Substitution - Missense |
c.1081C>T; p.R361W; 17:58521287-58521287 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.97G>T; p.E33*; 17:58526942-58526942 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Nonsense |
c.713G>A; p.R238Q; 17:58522051-58522051 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.102G>A; p.L34L; 17:58526937-58526937 |
NS | NS | Substitution - coding silent |
c.1075C>T; p.R359*; 17:58521293-58521293 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1096C>T; p.P366S; 17:58521272-58521272 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.861C>T; p.I287I; 17:58521790-58521790 |
skin | malignant_melanoma | Substitution - coding silent |
c.518G>A; p.R173Q; 17:58525715-58525715 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.518G>A; p.R173Q; 17:58525715-58525715 |
breast | carcinoma | Substitution - Missense |
c.1043G>A; p.G348D; 17:58521325-58521325 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |