| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 5573 |
Name | PRKAR1A |
Synonymous | protein kinase, cAMP-dependent, regulatory, type I, alpha;PRKAR1A;protein kinase, cAMP-dependent, regulatory, type I, alpha |
Definition | Carney complex type 1|cAMP-dependent protein kinase regulatory subunit RIalpha|cAMP-dependent protein kinase type I-alpha regulatory chain|cAMP-dependent protein kinase type I-alpha regulatory subunit|protein kinase A type 1a regulatory subunit|tissue-spe |
Position | 17q24.2 |
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 0.27. |
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] | |||
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Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
|---|---|---|---|
c.512G>A; p.G171E; 17:68524921-68524921 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.178-2A>T; p.?; 17:68522754-68522754 |
lung | carcinoma; adenocarcinoma | Unknown |
c.749T>G; p.L250R; 17:68527880-68527880 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.682_682delC; p.R228fs*13; 17:68525886-68525886 |
soft_tissue; fibrous_tissue_and_uncertain_o | myxoma | Deletion - Frameshift |
c.665A>G; p.K222R; 17:68525869-68525869 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.617T>C; p.I206T; 17:68525821-68525821 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.72G>A; p.K24K; 17:68515471-68515471 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.638C>A; p.A213D; 17:68525842-68525842 |
soft_tissue; fibrous_tissue_and_uncertain_o | myxoma | Substitution - Missense |
c.494_502+3del12; p.?; 17:68524069-68524077 |
soft_tissue; fibrous_tissue_and_uncertain_o | myxoma | Unknown |
c.643G>T; p.V215F; 17:68525847-68525847 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.797C>A; p.T266K; 17:68528897-68528897 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.322G>T; p.E108*; 17:68522900-68522900 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1081C>G; p.P361A; 17:68530384-68530384 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.145T>C; p.F49L; 17:68515544-68515544 |
pancreas | carcinoma | Substitution - Missense |
c.1054C>T; p.R352*; 17:68530357-68530357 |
breast | carcinoma | Substitution - Nonsense |
c.38G>A; p.R13H; 17:68515437-68515437 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.361G>T; p.D121Y; 17:68523737-68523737 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.440G>T; p.S147I; 17:68523816-68523816 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.633A>G; p.R211R; 17:68525837-68525837 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.907C>G; p.L303V; 17:68529935-68529935 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.514_514delG; p.D172fs*5; 17:68524923-68524923 |
soft_tissue; fibrous_tissue_and_uncertain_o | myxoma | Deletion - Frameshift |
c.834T>C; p.D278D; 17:68528934-68528934 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - coding silent |
c.63C>T; p.Y21Y; 17:68515462-68515462 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.489_490delTG; p.V164fs*5; 17:68524064-68524065 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.84_85ins20; p.A29fs*107; 17:68515483-68515484 |
testis | sex_cord-stromal_tumour; Sertoli_cell_tumour | Insertion - Frameshift |
c.892-1G>A; p.?; 17:68529919-68529919 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma | Unknown |
c.428A>T; p.D143V; 17:68523804-68523804 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.230C>T; p.S77L; 17:68522808-68522808 |
breast | carcinoma | Substitution - Missense |
c.709-79_80delTT; p.?; 17:68527760-68527761 |
thyroid | carcinoma; papillary_carcinoma | Unknown |
c.124C>T; p.R42*; 17:68515523-68515523 |
breast | carcinoma | Substitution - Nonsense |
c.892-1G>T; p.?; 17:68529919-68529919 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.499C>T; p.Q167*; 17:68524074-68524074 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Nonsense |
c.967T>A; p.Y323N; 17:68529995-68529995 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.947G>C; p.G316A; 17:68529975-68529975 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.682C>T; p.R228*; 17:68525886-68525886 |
skin | malignant_melanoma | Substitution - Nonsense |
c.441-17delCCTTCTCTCTTTTGCA; p.?; 17:68523999-68524014 |
adrenal_gland; adrenal_gland | adrenal_cortical_hyperplasia | Unknown |
c.682C>T; p.R228*; 17:68525886-68525886 |
skin | malignant_melanoma | Substitution - Nonsense |
c.15_21delTACCGCC; p.S5fs*122; 17:68515414-68515420 |
breast | carcinoma | Deletion - Frameshift |
c.1055G>A; p.R352Q; 17:68530358-68530358 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.163G>T; p.E55*; 17:68515562-68515562 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.789A>T; p.E263D; 17:68528889-68528889 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.18C>T; p.T6T; 17:68515417-68515417 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.948A>G; p.G316G; 17:68529976-68529976 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.977A>T; p.E326V; 17:68530280-68530280 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.687delC; p.D229fs*12; 17:68525891-68525891 |
soft_tissue; fibrous_tissue_and_uncertain_o | myxoma | Deletion - Frameshift |
c.576C>T; p.T192T; 17:68525780-68525780 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7T>A; p.S3T; 17:68515406-68515406 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.728G>A; p.R243Q; 17:68527859-68527859 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.728G>A; p.R243Q; 17:68527859-68527859 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.70A>C; p.K24Q; 17:68515469-68515469 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.892-10_905del24; p.?; 17:68529920-68529933 |
soft_tissue; fibrous_tissue_and_uncertain_o | myxoma | Unknown |
c.1047G>A; p.K349K; 17:68530350-68530350 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.558T>C; p.V186V; 17:68525762-68525762 |
breast | carcinoma | Substitution - coding silent |
c.43C>T; p.L15F; 17:68515442-68515442 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.916C>G; p.R306G; 17:68529944-68529944 |
kidney | Wilms_tumour | Substitution - Missense |
c.1111C>A; p.Q371K; 17:68530414-68530414 |
kidney | other; neoplasm | Substitution - Missense |
c.426T>C; p.D142D; 17:68523802-68523802 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1019T>C; p.V340A; 17:68530322-68530322 |
skin | malignant_melanoma | Substitution - Missense |
c.1037A>C; p.K346T; 17:68530340-68530340 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1128_1129insT; p.V377fs*>7; 17:68530431-68530432 |
soft_tissue; fibrous_tissue_and_uncertain_o | myxoma | Insertion - Frameshift |
c.891G>A; p.E297E; 17:68528991-68528991 |
soft_tissue; fibrous_tissue_and_uncertain_o | myxoma | Substitution - coding silent |
c.317C>T; p.T106M; 17:68522895-68522895 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.230C>G; p.S77*; 17:68522808-68522808 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.230C>G; p.S77*; 17:68522808-68522808 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.503G>C; p.G168A; 17:68524912-68524912 |
soft_tissue; fibrous_tissue_and_uncertain_o | myxoma | Substitution - Missense |
c.908_926del19; p.Q304fs*21; 17:68529936-68529954 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.908_926del19; p.Q304fs*21; 17:68529936-68529954 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.758T>C; p.V253A; 17:68527889-68527889 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.823C>A; p.Q275K; 17:68528923-68528923 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.822G>A; p.V274V; 17:68528922-68528922 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.1024C>T; p.R342C; 17:68530327-68530327 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.664A>G; p.K222E; 17:68525868-68525868 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma | Substitution - Missense |
c.241G>T; p.E81*; 17:68522819-68522819 |
soft_tissue; fibrous_tissue_and_uncertain_o | myxoma | Substitution - Nonsense |
c.843G>C; p.K281N; 17:68528943-68528943 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1090G>T; p.D364Y; 17:68530393-68530393 |
breast | carcinoma | Substitution - Missense |
c.974G>T; p.G325V; 17:68530277-68530277 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.142G>A; p.A48T; 17:68515541-68515541 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.289C>T; p.R97*; 17:68522867-68522867 |
soft_tissue; fibrous_tissue_and_uncertain_o | myxoma | Substitution - Nonsense |
c.138_138delC; p.M47fs*82; 17:68515543-68515543 |
soft_tissue; fibrous_tissue_and_uncertain_o | myxoma | Deletion - Frameshift |
c.522_523delCT; p.F174fs*4; 17:68524931-68524932 |
soft_tissue; fibrous_tissue_and_uncertain_o | myxoma | Deletion - Frameshift |
c.1076T>G; p.L359R; 17:68530379-68530379 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.329C>T; p.A110V; 17:68522907-68522907 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1103G>A; p.R368Q; 17:68530406-68530406 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.608T>C; p.L203P; 17:68525812-68525812 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.21C>T; p.A7A; 17:68515420-68515420 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.21C>T; p.A7A; 17:68515420-68515420 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.21C>T; p.A7A; 17:68515420-68515420 |
breast | carcinoma | Substitution - coding silent |
c.21C>T; p.A7A; 17:68515420-68515420 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |