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	5315
Symbol	PKM
Synonymous	CTHBP\|HEL-S-30\|OIP3\|PK3\|PKM2\|TCB\|THBP1
Full name	pyruvate kinase, muscle
Gene description	OIP-3\|OPA-interacting protein 3\|PK, muscle type\|cytosolic thyroid hormone-binding protein\|epididymis secretory protein Li 30\|p58\|pyruvate kinase 2/3\|pyruvate kinase PKM\|pyruvate kinase isozymes M1/M2\|pyruvate kinase muscle isozyme\|thyroid hormone-binding
Cytoband	15q22
Gene type	protein-coding
Synonymous	MIM:179050; HGNC:HGNC:9021; Ensembl:ENSG00000067225; HPRD:01529; Vega:OTTHUMG00000172709

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1249G>T; p.V417L; 15:72203080-72203080	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.146G>A; p.C49Y; 15:72218952-72218952	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.431T>C; p.L144P; 15:72209807-72209807	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.382G>A; p.G128S; 15:72209856-72209856	skin	malignant_melanoma	Substitution - Missense
c.78C>T; p.F26F; 15:72219020-72219020	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.378C>T; p.G126G; 15:72210347-72210347	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.57C>T; p.H19H; 15:72219041-72219041	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1407C>A; p.I469I; 15:72200556-72200556	breast	carcinoma	Substitution - coding silent
c.1394T>C; p.L465P; 15:72200569-72200569	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1394T>C; p.L465P; 15:72200569-72200569	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1124_1125delTG; p.V375fs*9; 15:72206743-72206744	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.549C>T; p.L183L; 15:72209689-72209689	skin	malignant_melanoma	Substitution - coding silent
c.631C>T; p.L211F; 15:72208826-72208826	skin	malignant_melanoma	Substitution - Missense
c.1399C>T; p.R467C; 15:72200564-72200564	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1391A>G; p.H464R; 15:72200572-72200572	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.639G>A; p.G213G; 15:72208818-72208818	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.350C>T; p.P117L; 15:72210375-72210375	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.402G>A; p.L134L; 15:72209836-72209836	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.402G>A; p.L134L; 15:72209836-72209836	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1149T>C; p.R383R; 15:72203180-72203180	thyroid	carcinoma	Substitution - coding silent
c.362C>G; p.T121S; 15:72210363-72210363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1364G>A; p.R455Q; 15:72200599-72200599	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.725C>T; p.A242V; 15:72208732-72208732	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1384C>T; p.Q462*; 15:72200579-72200579	skin	malignant_melanoma	Substitution - Nonsense
c.218_219delGT; p.R73fs*9; 15:72217436-72217437	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1546C>T; p.R516C; 15:72199700-72199700	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.674A>G; p.D225G; 15:72208783-72208783	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1173C>T; p.H391H; 15:72203156-72203156	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.94C>T; p.R32C; 15:72219004-72219004	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.242A>C; p.H81P; 15:72217413-72217413	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.798G>T; p.K266N; 15:72208659-72208659	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.381C>T; p.S127S; 15:72209857-72209857	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1060G>A; p.D354N; 15:72206808-72206808	urinary_tract; bladder	carcinoma	Substitution - Missense
c.666G>A; p.S222S; 15:72208791-72208791	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1295C>T; p.T432M; 15:72203034-72203034	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.950G>A; p.C317Y; 15:72207164-72207164	breast	carcinoma	Substitution - Missense
c.1393C>A; p.L465M; 15:72200570-72200570	urinary_tract; bladder	carcinoma	Substitution - Missense
c.525C>T; p.Y175Y; 15:72209713-72209713	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - coding silent
c.1395G>A; p.L465L; 15:72200568-72200568	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.878C>G; p.A293G; 15:72207236-72207236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1174C>T; p.R392C; 15:72203155-72203155	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.315C>T; p.Y105Y; 15:72210410-72210410	skin	malignant_melanoma	Substitution - coding silent
c.241C>T; p.H81Y; 15:72217414-72217414	skin	malignant_melanoma	Substitution - Missense
c.1127G>T; p.R376L; 15:72206741-72206741	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.320C>T; p.P107L; 15:72210405-72210405	skin	malignant_melanoma	Substitution - Missense
c.1511A>G; p.K504R; 15:72199735-72199735	breast	carcinoma	Substitution - Missense
c.35T>A; p.F12Y; 15:72219063-72219063	skin	malignant_melanoma	Substitution - Missense
c.35T>A; p.F12Y; 15:72219063-72219063	skin	malignant_melanoma	Substitution - Missense
c.553G>A; p.V185M; 15:72209685-72209685	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.654G>A; p.L218L; 15:72208803-72208803	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.155-16_156del18; p.?; 15:72217499-72217516	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.40C>G; p.Q14E; 15:72219058-72219058	urinary_tract; bladder	carcinoma	Substitution - Missense
c.185A>T; p.K62M; 15:72217470-72217470	liver	carcinoma	Substitution - Missense
c.185A>T; p.K62M; 15:72217470-72217470	liver	carcinoma	Substitution - Missense
c.1465C>T; p.R489W; 15:72200498-72200498	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1224C>T; p.L408L; 15:72203105-72203105	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1081C>T; p.L361L; 15:72206787-72206787	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1404C>T; p.G468G; 15:72200559-72200559	bone; rib	chondrosarcoma	Substitution - coding silent
c.1499G>A; p.R500Q; 15:72199747-72199747	breast	carcinoma	Substitution - Missense
c.1125G>A; p.V375V; 15:72206743-72206743	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.910G>T; p.E304*; 15:72207204-72207204	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6G>A; p.S2S; 15:72219092-72219092	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6G>A; p.S2S; 15:72219092-72219092	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.254C>T; p.A85V; 15:72210471-72210471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.930G>A; p.Q310Q; 15:72207184-72207184	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1243G>C; p.G415R; 15:72203086-72203086	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.813C>T; p.I271I; 15:72208644-72208644	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.631C>A; p.L211I; 15:72208826-72208826	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.84G>A; p.E28E; 15:72219014-72219014	liver	carcinoma	Substitution - coding silent
c.1102G>A; p.G368R; 15:72206766-72206766	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.137G>T; p.G46V; 15:72218961-72218961	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.218G>A; p.R73H; 15:72217437-72217437	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation