| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 135138 |
Name | PACRG |
Synonymous | PARK2 co-regulated;PACRG;PARK2 co-regulated |
Definition | molecular chaperone/chaperonin-binding protein|parkin co-regulated gene protein|parkin coregulated gene protein |
Position | 6q26 |
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 0.18. |
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.319C>G; p.H107D; 6:163062177-163062177 |
breast | carcinoma | Substitution - Missense |
c.353A>C; p.E118A; 6:163062211-163062211 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.479G>A; p.R160Q; 6:163089274-163089274 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.455C>T; p.P152L; 6:163062313-163062313 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.597C>A; p.I199I; 6:163089392-163089392 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.455C>T; p.P152L; 6:163062313-163062313 |
breast | carcinoma | Substitution - Missense |
c.827G>T; p.G276V; 6:163314923-163314923 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.736T>A; p.S246T; 6:163314832-163314832 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.745G>A; p.G249S; 6:163314841-163314841 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.764A>T; p.Q255L; 6:163314860-163314860 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.176C>A; p.A59E; 6:162814166-162814166 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.157G>C; p.V53L; 6:162814147-162814147 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.316C>T; p.H106Y; 6:163062174-163062174 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.382C>G; p.R128G; 6:163062240-163062240 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.571C>T; p.R191C; 6:163089366-163089366 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.502A>C; p.T168P; 6:163089297-163089297 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.576A>C; p.Q192H; 6:163089371-163089371 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.468C>T; p.A156A; 6:163089263-163089263 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.859G>T; p.V287F; 6:163314955-163314955 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.495C>T; p.I165I; 6:163089290-163089290 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.232C>T; p.R78*; 6:162814222-162814222 |
liver | carcinoma | Substitution - Nonsense |
c.232C>T; p.R78*; 6:162814222-162814222 |
liver | carcinoma | Substitution - Nonsense |
c.87C>G; p.L29L; 6:162728322-162728322 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.87C>G; p.L29L; 6:162728322-162728322 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.37T>C; p.C13R; 6:162728272-162728272 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.37T>C; p.C13R; 6:162728272-162728272 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.53C>G; p.P18R; 6:162728288-162728288 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.267G>A; p.S89S; 6:162814257-162814257 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.267G>A; p.S89S; 6:162814257-162814257 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.217C>T; p.R73*; 6:162814207-162814207 |
skin | malignant_melanoma | Substitution - Nonsense |
c.818G>A; p.R273H; 6:163314914-163314914 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.113delT; p.S39fs*9; 6:162728348-162728348 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.889T>A; p.*297K; 6:163314985-163314985 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Nonstop extension |
c.514C>T; p.L172F; 6:163089309-163089309 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.546G>T; p.V182V; 6:163089341-163089341 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.32A>G; p.N11S; 6:162728267-162728267 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.319C>A; p.H107N; 6:163062177-163062177 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.651G>A; p.A217A; 6:163312816-163312816 |
bone; scapula | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.423G>T; p.K141N; 6:163062281-163062281 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.201_202insA; p.P69fs*9; 6:162814191-162814192 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.407A>G; p.E136G; 6:163062265-163062265 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>T; p.V286L; 6:163314952-163314952 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.738C>T; p.S246S; 6:163314834-163314834 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.395A>G; p.H132R; 6:163062253-163062253 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.53C>T; p.P18L; 6:162728288-162728288 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.752A>T; p.D251V; 6:163314848-163314848 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.776A>C; p.N259T; 6:163314872-163314872 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.835G>T; p.A279S; 6:163314931-163314931 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.544G>A; p.V182M; 6:163089339-163089339 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.396C>T; p.H132H; 6:163062254-163062254 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.856G>A; p.V286M; 6:163314952-163314952 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>A; p.V286M; 6:163314952-163314952 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.40C>G; p.P14A; 6:162728275-162728275 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.287G>A; p.W96*; 6:162814277-162814277 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.11_12delAA; p.K5fs*35; 6:162728246-162728247 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.380C>A; p.A127D; 6:163062238-163062238 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.282C>T; p.I94I; 6:162814272-162814272 |
skin | malignant_melanoma | Substitution - coding silent |
c.478C>T; p.R160*; 6:163089273-163089273 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.439C>T; p.P147S; 6:163062297-163062297 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.464-7C>T; p.?; 6:163089252-163089252 |
skin; trunk | malignant_melanoma; nodular | Unknown |
c.33C>T; p.N11N; 6:162728268-162728268 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.382C>T; p.R128W; 6:163062240-163062240 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.290A>G; p.K97R; 6:162814280-162814280 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.795G>C; p.Q265H; 6:163314891-163314891 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.10G>A; p.E4K; 6:162728245-162728245 |
pancreas | carcinoma | Substitution - Missense |
c.365C>T; p.P122L; 6:163062223-163062223 |
skin | malignant_melanoma | Substitution - Missense |
c.511G>T; p.V171F; 6:163089306-163089306 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.266C>T; p.S89L; 6:162814256-162814256 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.511G>T; p.V171F; 6:163089306-163089306 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.826G>T; p.G276*; 6:163314922-163314922 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.297A>C; p.E99D; 6:163062155-163062155 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.211G>T; p.A71S; 6:162814201-162814201 |
thyroid | other; neoplasm | Substitution - Missense |
c.236G>T; p.G79V; 6:162814226-162814226 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.100C>T; p.P34S; 6:162728335-162728335 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.484C>T; p.R162*; 6:163089279-163089279 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.218G>A; p.R73Q; 6:162814208-162814208 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.218G>A; p.R73Q; 6:162814208-162814208 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.158T>C; p.V53A; 6:162814148-162814148 |
skin | malignant_melanoma | Substitution - Missense |
c.218G>A; p.R73Q; 6:162814208-162814208 |
skin | malignant_melanoma | Substitution - Missense |
c.218G>A; p.R73Q; 6:162814208-162814208 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.218G>A; p.R73Q; 6:162814208-162814208 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.870C>T; p.Y290Y; 6:163314966-163314966 |
prostate | carcinoma | Substitution - coding silent |