Entrez Gene

Basic Information
Gene ID	3329
Name	HSPD1
Synonymous	heat shock 60kDa protein 1 (chaperonin);HSPD1;heat shock 60kDa protein 1 (chaperonin)
Definition	60 kDa chaperonin\|60 kDa heat shock protein, mitochondrial\|P60 lymphocyte protein\|chaperonin 60\|heat shock protein 65\|mitochondrial matrix protein P1\|short heat shock protein 60 Hsp60s1
Position	2q33.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.714A>G; p.E238E; 2:197493479-197493479	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1477A>G; p.K493E; 2:197487950-197487950	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.105T>A; p.D35E; 2:197498744-197498744	breast	carcinoma	Substitution - Missense
c.106G>T; p.A36S; 2:197498743-197498743	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1646T>G; p.I549S; 2:197487122-197487122	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.167G>A; p.G56E; 2:197498682-197498682	liver	carcinoma	Substitution - Missense
c.167G>A; p.G56E; 2:197498682-197498682	urinary_tract; bladder	carcinoma	Substitution - Missense
c.167G>A; p.G56E; 2:197498682-197498682	fallopian_tube	carcinoma; serous_carcinoma	Substitution - Missense
c.167G>A; p.G56E; 2:197498682-197498682	liver	carcinoma	Substitution - Missense
c.167G>A; p.G56E; 2:197498682-197498682	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.167G>A; p.G56E; 2:197498682-197498682	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.167G>A; p.G56E; 2:197498682-197498682	liver	carcinoma	Substitution - Missense
c.167G>A; p.G56E; 2:197498682-197498682	liver	carcinoma	Substitution - Missense
c.167G>A; p.G56E; 2:197498682-197498682	liver	carcinoma	Substitution - Missense
c.167G>A; p.G56E; 2:197498682-197498682	liver	carcinoma	Substitution - Missense
c.829G>A; p.D277N; 2:197493364-197493364	breast	carcinoma	Substitution - Missense
c.95T>G; p.F32C; 2:197498754-197498754	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.738G>A; p.L246L; 2:197493455-197493455	breast	carcinoma	Substitution - coding silent
c.762C>T; p.I254I; 2:197493431-197493431	skin	malignant_melanoma	Substitution - coding silent
c.762C>T; p.I254I; 2:197493431-197493431	skin	malignant_melanoma	Substitution - coding silent
c.878T>C; p.V293A; 2:197490288-197490288	skin	malignant_melanoma	Substitution - Missense
c.518C>T; p.T173M; 2:197494745-197494745	breast	carcinoma	Substitution - Missense
c.1076A>C; p.K359T; 2:197489141-197489141	liver	carcinoma	Substitution - Missense
c.518C>T; p.T173M; 2:197494745-197494745	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1453G>A; p.V485I; 2:197487974-197487974	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.631T>C; p.L211L; 2:197494226-197494226	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.270C>A; p.Y90*; 2:197497297-197497297	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.764A>G; p.Q255R; 2:197493429-197493429	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1060G>A; p.D354N; 2:197489157-197489157	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.721G>T; p.D241Y; 2:197493472-197493472	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1108C>T; p.R370C; 2:197489109-197489109	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1108C>T; p.R370C; 2:197489109-197489109	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.571A>T; p.K191*; 2:197494692-197494692	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1108C>T; p.R370C; 2:197489109-197489109	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.85G>T; p.D29Y; 2:197498764-197498764	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.72G>A; p.R24R; 2:197498777-197498777	liver	carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	liver	carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	breast	carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	prostate	adenoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	thyroid	other; neoplasm	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	breast	carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	liver	carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	breast	carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	breast	carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	liver	carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	liver	carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	pancreas	carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	breast	carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	liver	carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	liver	carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	liver	carcinoma	Substitution - coding silent
c.174G>C; p.K58N; 2:197498675-197498675	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.72G>A; p.R24R; 2:197498777-197498777	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	breast	carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	liver	carcinoma	Substitution - coding silent
c.72G>A; p.R24R; 2:197498777-197498777	breast	carcinoma	Substitution - coding silent
c.1143A>G; p.T381T; 2:197489074-197489074	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.174+2T>G; p.?; 2:197498673-197498673	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.824C>G; p.A275G; 2:197493369-197493369	kidney	other; neoplasm	Substitution - Missense
c.1108C>A; p.R370S; 2:197489109-197489109	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.153G>A; p.V51V; 2:197498696-197498696	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.127_128GG>AA; p.G43N; 2:197498721-197498722	skin	malignant_melanoma	Substitution - Missense
c.1566A>G; p.T522T; 2:197487861-197487861	liver	carcinoma	Substitution - coding silent
c.349A>G; p.T117A; 2:197497218-197497218	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.273A>G; p.K91K; 2:197497294-197497294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.273A>G; p.K91K; 2:197497294-197497294	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.244A>C; p.K82Q; 2:197497323-197497323	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1429A>G; p.M477V; 2:197487998-197487998	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.69T>C; p.T23T; 2:197498780-197498780	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.320A>C; p.E107A; 2:197497247-197497247	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1083A>C; p.K361N; 2:197489134-197489134	liver	carcinoma	Substitution - Missense
c.1057G>A; p.D353N; 2:197489160-197489160	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.864G>C; p.L288F; 2:197493329-197493329	urinary_tract; bladder	carcinoma	Substitution - Missense
c.370G>C; p.A124P; 2:197497197-197497197	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.114C>T; p.A38A; 2:197498735-197498735	skin; arm	malignant_melanoma	Substitution - coding silent
c.949G>A; p.A317T; 2:197490217-197490217	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.390G>T; p.K130N; 2:197497177-197497177	breast	carcinoma	Substitution - Missense
c.1552delA; p.I518fs*8; 2:197487875-197487875	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.813G>T; p.L271F; 2:197493380-197493380	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1336C>T; p.R446*; 2:197488371-197488371	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1336C>T; p.R446*; 2:197488371-197488371	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.143C>A; p.A48D; 2:197498706-197498706	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.136C>T; p.L46F; 2:197498713-197498713	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.286A>G; p.K96E; 2:197497281-197497281	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.541G>T; p.E181*; 2:197494722-197494722	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.39G>A; p.P13P; 2:197498810-197498810	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.39G>A; p.P13P; 2:197498810-197498810	breast	carcinoma	Substitution - coding silent
c.1322delG; p.G441fs*14; 2:197488385-197488385	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1483A>C; p.M495L; 2:197487944-197487944	breast	carcinoma	Substitution - Missense
c.700+9A>C; p.?; 2:197494148-197494148	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1000C>T; p.L334F; 2:197489217-197489217	urinary_tract; bladder	carcinoma	Substitution - Missense
c.124C>A; p.Q42K; 2:197498725-197498725	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1233T>C; p.D411D; 2:197488474-197488474	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.982G>C; p.E328Q; 2:197489235-197489235	NS	NS	Substitution - Missense
c.1515T>A; p.A505A; 2:197487912-197487912	central_nervous_system; brain	glioma	Substitution - coding silent
c.355C>G; p.L119V; 2:197497212-197497212	ovary	other; neoplasm	Substitution - Missense
c.460G>A; p.E154K; 2:197495344-197495344	breast	carcinoma	Substitution - Missense
c.1510G>A; p.D504N; 2:197487917-197487917	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1084G>T; p.G362C; 2:197489133-197489133	breast	carcinoma	Substitution - Missense
c.511-1G>T; p.?; 2:197494753-197494753	lung	carcinoma; adenocarcinoma	Unknown
c.215A>C; p.K72T; 2:197497352-197497352	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.802C>T; p.R268C; 2:197493391-197493391	liver	carcinoma	Substitution - Missense
c.1208T>G; p.V403G; 2:197489009-197489009	skin	malignant_melanoma	Substitution - Missense
c.106G>A; p.A36T; 2:197498743-197498743	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.429T>G; p.G143G; 2:197495375-197495375	ovary	other; neoplasm	Substitution - coding silent
c.1708G>A; p.G570S; 2:197487060-197487060	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1127A>G; p.E376G; 2:197489090-197489090	skin	malignant_melanoma	Substitution - Missense
c.36_37insA; p.P13fs*53; 2:197498812-197498813	breast	carcinoma	Insertion - Frameshift
c.1022A>G; p.D341G; 2:197489195-197489195	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.115T>G; p.L39V; 2:197498734-197498734	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.674C>T; p.S225F; 2:197494183-197494183	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.306C>A; p.A102A; 2:197497261-197497261	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1619_1628del10; p.T540fs*3; 2:197487140-197487149	breast	carcinoma	Deletion - Frameshift
c.663A>C; p.R221R; 2:197494194-197494194	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.110G>A; p.R37Q; 2:197498739-197498739	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]