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	2729
Symbol	GCLC
Synonymous	GCL\|GCS\|GLCL\|GLCLC
Full name	glutamate-cysteine ligase, catalytic subunit
Gene description	GCS heavy chain\|gamma-ECS\|gamma-glutamylcysteine synthetase\|glutamate--cysteine ligase catalytic subunit
Cytoband	6p12
Gene type	protein-coding
Synonymous	MIM:606857; HGNC:HGNC:4311; Ensembl:ENSG00000001084; HPRD:06032; Vega:OTTHUMG00000160220

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.567A>T; p.L189F; 6:53514491-53514491	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.850C>T; p.P284S; 6:53508690-53508690	skin	malignant_melanoma	Substitution - Missense
c.1791G>A; p.M597I; 6:53498879-53498879	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1153G>A; p.E385K; 6:53506957-53506957	skin	malignant_melanoma	Substitution - Missense
c.1153G>A; p.E385K; 6:53506957-53506957	skin	malignant_melanoma	Substitution - Missense
c.1460G>C; p.R487T; 6:53500449-53500449	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1460G>C; p.R487T; 6:53500449-53500449	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.983G>A; p.R328Q; 6:53507581-53507581	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.1018G>C; p.G340R; 6:53507546-53507546	breast	carcinoma	Substitution - Missense
c.1666C>T; p.L556L; 6:53500081-53500081	skin	malignant_melanoma	Substitution - coding silent
c.1040A>G; p.D347G; 6:53507524-53507524	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1108C>G; p.H370D; 6:53507002-53507002	liver	carcinoma	Substitution - Missense
c.581G>A; p.R194Q; 6:53514477-53514477	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1047G>A; p.T349T; 6:53507517-53507517	skin	malignant_melanoma	Substitution - coding silent
c.1889G>A; p.G630E; 6:53498781-53498781	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1889G>A; p.G630E; 6:53498781-53498781	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1778T>C; p.I593T; 6:53498892-53498892	liver	carcinoma	Substitution - Missense
c.383G>A; p.R128Q; 6:53520841-53520841	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1359T>C; p.L453L; 6:53505428-53505428	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1294C>G; p.Q432E; 6:53505493-53505493	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1520G>A; p.S507N; 6:53500308-53500308	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1450T>G; p.F484V; 6:53500459-53500459	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.165G>T; p.L55F; 6:53522513-53522513	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.529G>T; p.D177Y; 6:53516140-53516140	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.446+1G>A; p.?; 6:53520777-53520777	pancreas	carcinoma	Unknown
c.1234A>T; p.K412*; 6:53505859-53505859	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.934C>T; p.R312*; 6:53508606-53508606	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1290G>T; p.E430D; 6:53505803-53505803	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.181G>C; p.E61Q; 6:53522497-53522497	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1450T>C; p.F484L; 6:53500459-53500459	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.311G>T; p.G104V; 6:53520913-53520913	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.921A>G; p.R307R; 6:53508619-53508619	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.212G>T; p.G71V; 6:53522466-53522466	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1533T>A; p.A511A; 6:53500295-53500295	stomach	adenocarcinoma	Substitution - coding silent
c.1408A>G; p.M470V; 6:53500501-53500501	liver	carcinoma	Substitution - Missense
c.1408A>G; p.M470V; 6:53500501-53500501	liver	carcinoma	Substitution - Missense
c.421C>T; p.L141F; 6:53520803-53520803	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.178C>T; p.H60Y; 6:53522500-53522500	skin	malignant_melanoma	Substitution - Missense
c.784G>A; p.A262T; 6:53509220-53509220	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.421C>G; p.L141V; 6:53520803-53520803	pancreas	carcinoma	Substitution - Missense
c.421C>G; p.L141V; 6:53520803-53520803	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.783G>T; p.E261D; 6:53509221-53509221	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1311G>A; p.E437E; 6:53505476-53505476	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1600C>G; p.L534V; 6:53500147-53500147	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1252T>G; p.S418A; 6:53505841-53505841	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1486G>T; p.A496S; 6:53500342-53500342	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.423T>G; p.L141L; 6:53520801-53520801	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.617C>A; p.P206Q; 6:53514441-53514441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.420T>G; p.A140A; 6:53520804-53520804	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1625T>C; p.L542P; 6:53500122-53500122	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1645G>A; p.V549M; 6:53500102-53500102	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1342C>G; p.L448V; 6:53505445-53505445	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.698C>G; p.P233R; 6:53514259-53514259	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.852C>G; p.P284P; 6:53508688-53508688	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.442C>T; p.P148S; 6:53520782-53520782	skin; mucosal	malignant_melanoma	Substitution - Missense
c.467C>T; p.T156I; 6:53516202-53516202	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.373C>T; p.R125*; 6:53520851-53520851	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.699G>A; p.P233P; 6:53514258-53514258	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.699G>A; p.P233P; 6:53514258-53514258	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.699G>A; p.P233P; 6:53514258-53514258	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1724G>A; p.R575K; 6:53498946-53498946	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1787A>C; p.E596A; 6:53498883-53498883	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1830T>C; p.N610N; 6:53498840-53498840	pancreas	carcinoma	Substitution - coding silent
c.1038C>T; p.I346I; 6:53507526-53507526	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.698C>T; p.P233L; 6:53514259-53514259	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.908C>A; p.S303Y; 6:53508632-53508632	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.143G>A; p.G48D; 6:53544503-53544503	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.58G>A; p.D20N; 6:53544588-53544588	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.232C>T; p.L78L; 6:53522446-53522446	skin	malignant_melanoma	Substitution - coding silent
c.515C>T; p.S172F; 6:53516154-53516154	skin	malignant_melanoma	Substitution - Missense
c.643T>C; p.S215P; 6:53514314-53514314	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.196C>T; p.R66W; 6:53522482-53522482	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1261G>C; p.G421R; 6:53505832-53505832	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1073T>A; p.L358Q; 6:53507491-53507491	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1809G>A; p.L603L; 6:53498861-53498861	pancreas	carcinoma	Substitution - coding silent
c.1809G>A; p.L603L; 6:53498861-53498861	pancreas	carcinoma	Substitution - coding silent
c.1809G>A; p.L603L; 6:53498861-53498861	pancreas	carcinoma	Substitution - coding silent
c.755T>C; p.V252A; 6:53509249-53509249	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1809G>A; p.L603L; 6:53498861-53498861	pancreas	carcinoma	Substitution - coding silent
c.1479T>G; p.G493G; 6:53500349-53500349	breast	carcinoma	Substitution - coding silent
c.474C>T; p.P158P; 6:53516195-53516195	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.447-1G>T; p.?; 6:53516223-53516223	prostate	carcinoma	Unknown
c.753G>T; p.Q251H; 6:53514204-53514204	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1581G>T; p.K527N; 6:53500247-53500247	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1581+7G>A; p.?; 6:53500240-53500240	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1594C>T; p.P532S; 6:53500153-53500153	skin	malignant_melanoma	Substitution - Missense
c.977A>G; p.K326R; 6:53507587-53507587	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1836A>T; p.L612F; 6:53498834-53498834	skin	malignant_melanoma	Substitution - Missense
c.286G>T; p.E96*; 6:53520938-53520938	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.405A>G; p.L135L; 6:53520819-53520819	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.698C>A; p.P233Q; 6:53514259-53514259	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1019G>A; p.G340D; 6:53507545-53507545	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1782T>C; p.T594T; 6:53498888-53498888	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.832G>C; p.A278P; 6:53508708-53508708	breast	carcinoma	Substitution - Missense
c.1346C>T; p.T449I; 6:53505441-53505441	skin	malignant_melanoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation