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	5106
Symbol	PCK2
Synonymous	PEPCK\|PEPCK-M\|PEPCK2
Full name	phosphoenolpyruvate carboxykinase 2 (mitochondrial)
Gene description	PEP carboxykinase\|phosphoenolpyruvate carboxykinase [GTP], mitochondrial\|phosphopyruvate carboxylase
Cytoband	14q11.2
Gene type	protein-coding
Synonymous	MIM:614095; HGNC:HGNC:8725; Ensembl:ENSG00000100889; HPRD:02026; Vega:OTTHUMG00000028791

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1502G>A; p.R501Q; 14:24103543-24103543	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1606C>T; p.R536W; 14:24103647-24103647	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.311G>A; p.R104Q; 14:24098238-24098238	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1429G>A; p.A477T; 14:24103216-24103216	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.157C>T; p.R53C; 14:24097019-24097019	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.159C>T; p.R53R; 14:24097021-24097021	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.428C>T; p.A143V; 14:24098355-24098355	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1723C>T; p.L575L; 14:24103764-24103764	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1250G>T; p.C417F; 14:24102768-24102768	liver	carcinoma	Substitution - Missense
c.1250G>T; p.C417F; 14:24102768-24102768	liver	carcinoma	Substitution - Missense
c.1809G>A; p.W603*; 14:24103850-24103850	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.134G>T; p.R45L; 14:24096996-24096996	liver	carcinoma	Substitution - Missense
c.454A>C; p.M152L; 14:24098381-24098381	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>A; p.R479H; 14:24103223-24103223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6C>T; p.A2A; 14:24094411-24094411	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.943C>T; p.R315W; 14:24099648-24099648	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.242G>C; p.G81A; 14:24097104-24097104	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.943C>T; p.R315W; 14:24099648-24099648	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.800G>A; p.R267H; 14:24099184-24099184	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.730C>T; p.R244W; 14:24099114-24099114	kidney	other; neoplasm	Substitution - Missense
c.730C>T; p.R244W; 14:24099114-24099114	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.730C>T; p.R244W; 14:24099114-24099114	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.461G>T; p.G154V; 14:24098475-24098475	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1681C>T; p.R561W; 14:24103722-24103722	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1021C>T; p.L341F; 14:24100000-24100000	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1361G>A; p.R454H; 14:24102879-24102879	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.872C>A; p.P291H; 14:24099577-24099577	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.151A>G; p.S51G; 14:24097013-24097013	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.349C>T; p.R117W; 14:24098276-24098276	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1018C>T; p.R340*; 14:24099997-24099997	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1406G>A; p.R469H; 14:24103193-24103193	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.229C>A; p.L77M; 14:24097091-24097091	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.327G>A; p.T109T; 14:24098254-24098254	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1024C>T; p.R342W; 14:24100003-24100003	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1343C>T; p.A448V; 14:24102861-24102861	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.989T>G; p.I330S; 14:24099694-24099694	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1822C>T; p.R608C; 14:24103863-24103863	skin	malignant_melanoma	Substitution - Missense
c.1156G>A; p.V386M; 14:24100135-24100135	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1155C>T; p.G385G; 14:24100134-24100134	breast	carcinoma	Substitution - coding silent
c.1342G>A; p.A448T; 14:24102860-24102860	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1372+1G>A; p.?; 14:24102891-24102891	skin; face	carcinoma; squamous_cell_carcinoma	Unknown
c.1147G>A; p.D383N; 14:24100126-24100126	skin	malignant_melanoma	Substitution - Missense
c.802A>G; p.I268V; 14:24099186-24099186	thyroid	carcinoma	Substitution - Missense
c.900C>T; p.A300A; 14:24099605-24099605	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.566G>A; p.R189H; 14:24098580-24098580	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1869C>T; p.P623P; 14:24103910-24103910	breast	carcinoma	Substitution - coding silent
c.1087C>T; p.P363S; 14:24100066-24100066	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1490C>A; p.P497Q; 14:24103531-24103531	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.91C>T; p.R31*; 14:24096953-24096953	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.332_335delTTGT; p.I111fs*80; 14:24098259-24098262	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.285C>A; p.A95A; 14:24098212-24098212	breast	carcinoma	Substitution - coding silent
c.367C>T; p.P123S; 14:24098294-24098294	skin	malignant_melanoma	Substitution - Missense
c.1406G>T; p.R469L; 14:24103193-24103193	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1121_1122insT; p.T376fs*5; 14:24100100-24100101	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.1609C>T; p.R537C; 14:24103650-24103650	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.243C>T; p.G81G; 14:24097105-24097105	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1482G>A; p.M494I; 14:24103523-24103523	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1501C>T; p.R501W; 14:24103542-24103542	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1373G>A; p.G458E; 14:24103160-24103160	skin	malignant_melanoma	Substitution - Missense
c.591T>C; p.P197P; 14:24098605-24098605	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.727C>A; p.Q243K; 14:24099111-24099111	skin	malignant_melanoma	Substitution - Missense
c.1713A>G; p.T571T; 14:24103754-24103754	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1790C>T; p.S597F; 14:24103831-24103831	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1565A>C; p.K522T; 14:24103606-24103606	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1014A>C; p.E338D; 14:24099719-24099719	breast	carcinoma	Substitution - Missense
c.1014A>C; p.E338D; 14:24099719-24099719	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1894G>A; p.A632T; 14:24103935-24103935	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.973T>C; p.C325R; 14:24099678-24099678	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1562G>A; p.R521H; 14:24103603-24103603	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.232G>C; p.E78Q; 14:24097094-24097094	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1485C>T; p.H495H; 14:24103526-24103526	breast	carcinoma	Substitution - coding silent
c.1485C>T; p.H495H; 14:24103526-24103526	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1334C>A; p.P445H; 14:24102852-24102852	breast	carcinoma	Substitution - Missense
c.1717A>G; p.I573V; 14:24103758-24103758	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1209C>T; p.S403S; 14:24100188-24100188	skin	malignant_melanoma	Substitution - coding silent
c.1756G>A; p.G586S; 14:24103797-24103797	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.901G>A; p.A301T; 14:24099606-24099606	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.424C>T; p.R142*; 14:24098351-24098351	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1165G>A; p.E389K; 14:24100144-24100144	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.577C>T; p.R193*; 14:24098591-24098591	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1301T>C; p.M434T; 14:24102819-24102819	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.251G>A; p.R84Q; 14:24097113-24097113	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1579C>T; p.P527S; 14:24103620-24103620	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1094C>A; p.A365D; 14:24100073-24100073	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1303G>T; p.D435Y; 14:24102821-24102821	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.914C>T; p.A305V; 14:24099619-24099619	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1270T>C; p.F424L; 14:24102788-24102788	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.565C>T; p.R189C; 14:24098579-24098579	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.565C>T; p.R189C; 14:24098579-24098579	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1270T>C; p.F424L; 14:24102788-24102788	breast	carcinoma	Substitution - Missense
c.1853T>G; p.V618G; 14:24103894-24103894	skin	malignant_melanoma	Substitution - Missense
c.1285C>T; p.R429C; 14:24102803-24102803	breast	carcinoma	Substitution - Missense
c.1285C>T; p.R429C; 14:24102803-24102803	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.446C>T; p.P149L; 14:24098373-24098373	liver	carcinoma	Substitution - Missense
c.446C>T; p.P149L; 14:24098373-24098373	liver	carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation