| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
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 summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
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Loss of Function mutations compare to missense mutations | Top |
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| The ratio of the loss-of-function mutations over missense mutations is 0.15. |
The copy number variations for various cancers | Top |
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The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
|
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
|---|---|---|---|
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 |