lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	5414
Symbol	SEPT4
Synonymous	ARTS\|BRADEION\|CE5B3\|H5\|MART\|PNUTL2\|SEP4\|hCDCREL-2\|hucep-7
Full name	septin 4
Gene description	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
Cytoband	17q22
Gene type	protein-coding
Synonymous	MIM:603696; HGNC:HGNC:9165; Ensembl:ENSG00000108387; HPRD:04738; Vega:OTTHUMG00000179243

COSMIC somatic mutation

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

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation