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	5071
Symbol	PARK2
Synonymous	AR-JP\|LPRS2\|PDJ\|PRKN
Full name	parkin RBR E3 ubiquitin protein ligase
Gene description	E3 ubiquitin-protein ligase parkin\|Parkinson disease (autosomal recessive, juvenile) 2, parkin\|parkinson juvenile disease protein 2\|parkinson protein 2, E3 ubiquitin protein ligase (parkin)
Cytoband	6q25.2-q27
Gene type	protein-coding
Synonymous	MIM:602544; HGNC:HGNC:8607; Ensembl:ENSG00000185345; HPRD:03967; Vega:OTTHUMG00000015970

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1372A>C; p.M458L; 6:161350125-161350125	urinary_tract; bladder	carcinoma	Substitution - Missense
c.82G>A; p.E28K; 6:162443399-162443399	skin	malignant_melanoma	Substitution - Missense
c.1329C>T; p.L443L; 6:161350168-161350168	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1329C>T; p.L443L; 6:161350168-161350168	skin	malignant_melanoma	Substitution - coding silent
c.964G>T; p.E322*; 6:161548973-161548973	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1353C>T; p.C451C; 6:161350144-161350144	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.848T>G; p.L283R; 6:161785795-161785795	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1346G>T; p.C449F; 6:161350151-161350151	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.37T>G; p.F13V; 6:162443444-162443444	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1041G>T; p.Q347H; 6:161548896-161548896	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1256C>T; p.P419L; 6:161360117-161360117	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.880C>T; p.P294S; 6:161569408-161569408	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.685A>T; p.I229F; 6:161973351-161973351	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.685A>T; p.I229F; 6:161973351-161973351	large_intestine; colon	carcinoma	Substitution - Missense
c.1183G>A; p.E395K; 6:161360190-161360190	breast	carcinoma	Substitution - Missense
c.685A>T; p.I229F; 6:161973351-161973351	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.81G>A; p.K27K; 6:162443400-162443400	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.599A>C; p.H200P; 6:162054110-162054110	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.978G>T; p.Q326H; 6:161548959-161548959	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.891G>A; p.L297L; 6:161569397-161569397	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.449G>T; p.C150F; 6:162201216-162201216	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1312C>A; p.Q438K; 6:161350185-161350185	oesophagus	carcinoma	Substitution - Missense
c.619G>A; p.E207K; 6:161973417-161973417	skin	malignant_melanoma	Substitution - Missense
c.627C>A; p.F209L; 6:161973409-161973409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.137C>A; p.A46E; 6:162443344-162443344	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.384G>A; p.R128R; 6:162262553-162262553	skin	malignant_melanoma	Substitution - coding silent
c.858C>T; p.S286S; 6:161785785-161785785	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.40C>T; p.P14S; 6:162443441-162443441	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.824G>C; p.R275P; 6:161785819-161785819	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.986_987insG; p.V330fs*17; 6:161548950-161548951	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.899A>G; p.E300G; 6:161569389-161569389	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.755A>G; p.Q252R; 6:161785888-161785888	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1285+1G>T; p.?; 6:161360087-161360087	lung	carcinoma; adenocarcinoma	Unknown
c.1116C>A; p.Y372*; 6:161386845-161386845	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1220C>G; p.S407C; 6:161360153-161360153	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.535-1G>T; p.?; 6:162054175-162054175	lung	carcinoma; adenocarcinoma	Unknown
c.291G>T; p.R97R; 6:162262646-162262646	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.881C>T; p.P294L; 6:161569407-161569407	skin	malignant_melanoma	Substitution - Missense
c.970G>T; p.V324F; 6:161548967-161548967	breast	carcinoma	Substitution - Missense
c.694A>C; p.N232H; 6:161973342-161973342	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.892A>T; p.I298F; 6:161569396-161569396	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.434G>A; p.S145N; 6:162201231-162201231	skin	malignant_melanoma	Substitution - Missense
c.1258C>T; p.R420C; 6:161360115-161360115	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1036G>A; p.D346N; 6:161548901-161548901	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1004C>T; p.P335L; 6:161548933-161548933	skin	malignant_melanoma	Substitution - Missense
c.251_252insT; p.G85fs*12; 6:162262685-162262686	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1192G>A; p.A398T; 6:161360181-161360181	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1382A>G; p.H461R; 6:161350115-161350115	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.985G>A; p.G329S; 6:161548952-161548952	bone; femur	chondrosarcoma	Substitution - Missense
c.1269A>G; p.V423V; 6:161360104-161360104	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.824G>T; p.R275L; 6:161785819-161785819	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.412+2T>A; p.?; 6:162262523-162262523	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.561A>C; p.L187F; 6:162054148-162054148	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.65G>T; p.S22I; 6:162443416-162443416	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1041G>C; p.Q347H; 6:161548896-161548896	breast	carcinoma	Substitution - Missense
c.1164T>G; p.T388T; 6:161386797-161386797	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1017G>A; p.A339A; 6:161548920-161548920	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.276G>A; p.A92A; 6:162262661-162262661	large_intestine; caecum	adenoma	Substitution - coding silent
c.1111G>A; p.A371T; 6:161386850-161386850	skin	malignant_melanoma	Substitution - Missense
c.603C>T; p.C201C; 6:162054106-162054106	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.130A>C; p.I44L; 6:162443351-162443351	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.283T>A; p.C95S; 6:162262654-162262654	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.768C>T; p.R256R; 6:161785875-161785875	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.573G>A; p.R191R; 6:162054136-162054136	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.571C>A; p.R191R; 6:162054138-162054138	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.571C>A; p.R191R; 6:162054138-162054138	ovary	other; neoplasm	Substitution - coding silent
c.719C>T; p.T240M; 6:161973317-161973317	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.719C>T; p.T240M; 6:161973317-161973317	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.25T>G; p.S9A; 6:162443456-162443456	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.709A>G; p.T237A; 6:161973327-161973327	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.719C>T; p.T240M; 6:161973317-161973317	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.875G>A; p.G292D; 6:161569413-161569413	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.641C>A; p.A214E; 6:161973395-161973395	prostate	carcinoma	Substitution - Missense
c.1065C>A; p.G355G; 6:161548872-161548872	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.297C>T; p.P99P; 6:162262640-162262640	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.700C>T; p.R234W; 6:161973336-161973336	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.664A>G; p.T222A; 6:161973372-161973372	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1391A>T; p.D464V; 6:161350106-161350106	pancreas	carcinoma	Substitution - Missense
c.1230C>T; p.T410T; 6:161360143-161360143	skin	malignant_melanoma	Substitution - coding silent
c.729C>T; p.D243D; 6:161973307-161973307	pancreas	carcinoma	Substitution - coding silent
c.1194C>T; p.A398A; 6:161360179-161360179	liver	carcinoma	Substitution - coding silent
c.1194C>T; p.A398A; 6:161360179-161360179	liver	carcinoma	Substitution - coding silent
c.688G>A; p.A230T; 6:161973348-161973348	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.390C>T; p.D130D; 6:162262547-162262547	skin	malignant_melanoma	Substitution - coding silent
c.110C>T; p.P37L; 6:162443371-162443371	skin	malignant_melanoma	Substitution - Missense
c.1390G>A; p.D464N; 6:161350107-161350107	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1136C>T; p.A379V; 6:161386825-161386825	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.135C>T; p.F45F; 6:162443346-162443346	skin	malignant_melanoma	Substitution - coding silent
c.1389C>T; p.F463F; 6:161350108-161350108	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.767G>T; p.R256L; 6:161785876-161785876	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1023G>T; p.L341L; 6:161548914-161548914	breast	carcinoma	Substitution - coding silent
c.1389C>T; p.F463F; 6:161350108-161350108	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.627C>T; p.F209F; 6:161973409-161973409	skin	malignant_melanoma	Substitution - coding silent
c.1389C>T; p.F463F; 6:161350108-161350108	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.665C>A; p.T222K; 6:161973371-161973371	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.311G>A; p.R104Q; 6:162262626-162262626	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.633A>C; p.K211N; 6:161973403-161973403	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1170C>G; p.A390A; 6:161360203-161360203	soft_tissue; blood_vessel	angiosarcoma	Substitution - coding silent
c.1190C>T; p.A397V; 6:161360183-161360183	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.111G>A; p.P37P; 6:162443370-162443370	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.950A>G; p.Q317R; 6:161548987-161548987	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1028C>T; p.P343L; 6:161548909-161548909	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1028C>T; p.P343L; 6:161548909-161548909	skin	malignant_melanoma	Substitution - Missense
c.1365C>T; p.R455R; 6:161350132-161350132	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.426C>T; p.I142I; 6:162201239-162201239	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1006_1007GG>TT; p.G336>?; 6:161548930-161548931	lung	carcinoma; adenocarcinoma	Complex
c.167T>A; p.V56E; 6:162443314-162443314	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.226A>G; p.K76E; 6:162262711-162262711	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.337C>T; p.P113S; 6:162262600-162262600	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.479G>A; p.G160E; 6:162201186-162201186	skin	malignant_melanoma	Substitution - Missense
c.885C>A; p.N295K; 6:161569403-161569403	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.594C>T; p.S198S; 6:162054115-162054115	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1060G>C; p.G354R; 6:161548877-161548877	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1213G>C; p.A405P; 6:161360160-161360160	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.272C>T; p.A91V; 6:162262665-162262665	pancreas	carcinoma	Substitution - Missense
c.1259G>A; p.R420H; 6:161360114-161360114	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1259G>A; p.R420H; 6:161360114-161360114	large_intestine; colon	carcinoma	Substitution - Missense
c.1259G>A; p.R420H; 6:161360114-161360114	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.272C>T; p.A91V; 6:162262665-162262665	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.275C>T; p.A92V; 6:162262662-162262662	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.458C>T; p.P153L; 6:162201207-162201207	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.518C>T; p.T173M; 6:162201147-162201147	skin	malignant_melanoma	Substitution - Missense
c.340G>T; p.G114*; 6:162262597-162262597	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1358G>T; p.W453L; 6:161350139-161350139	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1132A>G; p.S378G; 6:161386829-161386829	skin	malignant_melanoma	Substitution - Missense
c.871G>T; p.A291S; 6:161785772-161785772	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.992T>A; p.L331*; 6:161548945-161548945	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.202C>T; p.H68Y; 6:162262735-162262735	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.741delC; p.V248fs*11; 6:161785902-161785902	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.466A>T; p.R156*; 6:162201199-162201199	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.741delC; p.V248fs*11; 6:161785902-161785902	stomach	adenocarcinoma	Deletion - Frameshift
c.1181A>G; p.D394G; 6:161360192-161360192	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.580_581GG>AT; p.G194I; 6:162054128-162054129	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.124C>A; p.R42S; 6:162443357-162443357	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1112C>T; p.A371V; 6:161386849-161386849	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1117C>G; p.H373D; 6:161386844-161386844	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.522C>G; p.L174L; 6:162201143-162201143	breast	carcinoma	Substitution - coding silent
c.646C>T; p.P216S; 6:161973390-161973390	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.859C>T; p.L287L; 6:161785784-161785784	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.477G>A; p.P159P; 6:162201188-162201188	skin	malignant_melanoma	Substitution - coding silent
c.1314G>A; p.Q438Q; 6:161350183-161350183	skin	malignant_melanoma	Substitution - coding silent
c.212A>C; p.Q71P; 6:162262725-162262725	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.556G>A; p.V186I; 6:162054153-162054153	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.412G>C; p.A138P; 6:162262525-162262525	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.915G>A; p.R305R; 6:161569373-161569373	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1029G>A; p.P343P; 6:161548908-161548908	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.474G>T; p.Q158H; 6:162201191-162201191	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.919C>A; p.L307M; 6:161569369-161569369	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.661G>A; p.E221K; 6:161973375-161973375	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.388G>A; p.D130N; 6:162262549-162262549	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.587G>A; p.C196Y; 6:162054122-162054122	urinary_tract; bladder	carcinoma	Substitution - Missense
c.234A>G; p.Q78Q; 6:162262703-162262703	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.234A>G; p.Q78Q; 6:162262703-162262703	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.387G>T; p.K129N; 6:162262550-162262550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.823C>T; p.R275W; 6:161785820-161785820	NS	malignant_melanoma	Substitution - Missense
c.1260C>T; p.R420R; 6:161360113-161360113	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.171G>A; p.Q57Q; 6:162443310-162443310	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.258C>T; p.D86D; 6:162262679-162262679	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.638G>T; p.G213V; 6:161973398-161973398	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.265A>G; p.R89G; 6:162262672-162262672	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.263C>T; p.P88L; 6:162262674-162262674	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1283delA; p.N428fs*7; 6:161360090-161360090	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.459C>A; p.P153P; 6:162201206-162201206	breast	carcinoma	Substitution - coding silent
c.354delG; p.L119fs*58; 6:162262583-162262583	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1057G>T; p.E353*; 6:161548880-161548880	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.500G>A; p.S167N; 6:162201165-162201165	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.500G>A; p.S167N; 6:162201165-162201165	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.500G>A; p.S167N; 6:162201165-162201165	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.522C>T; p.L174L; 6:162201143-162201143	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1028C>A; p.P343Q; 6:161548909-161548909	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.442G>T; p.V148L; 6:162201223-162201223	urinary_tract; bladder	carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation