| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 5165 |
Name | PDK3 |
Synonymous | pyruvate dehydrogenase kinase, isozyme 3;PDK3;pyruvate dehydrogenase kinase, isozyme 3 |
Definition | [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial|pyruvate dehydrogenase kinase, isoenzyme 3|pyruvate dehydrogenase, lipoamide, kinase isozyme 3, mitochondrial |
Position | Xp22.11 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1085C>G; p.S362*; 23:24533936-24533936 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.1085C>G; p.S362*; 23:24533936-24533936 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.1085C>G; p.S362*; 23:24533936-24533936 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.654G>T; p.L218L; 23:24518991-24518991 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.970T>C; p.F324L; 23:24531663-24531663 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1084T>A; p.S362T; 23:24533935-24533935 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.992C>T; p.S331F; 23:24531685-24531685 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.728A>C; p.H243P; 23:24526252-24526252 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1148C>T; p.T383M; 23:24533999-24533999 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.335T>A; p.L112Q; 23:24503341-24503341 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.457C>T; p.R153W; 23:24503463-24503463 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.294C>T; p.S98S; 23:24498874-24498874 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.457C>T; p.R153W; 23:24503463-24503463 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.72G>A; p.P24P; 23:24465527-24465527 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - coding silent |
c.72G>A; p.P24P; 23:24465527-24465527 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - coding silent |
c.72G>A; p.P24P; 23:24465527-24465527 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - coding silent |
c.72G>A; p.P24P; 23:24465527-24465527 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - coding silent |
c.892G>T; p.D298Y; 23:24528115-24528115 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.892G>T; p.D298Y; 23:24528115-24528115 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.835G>T; p.E279*; 23:24527658-24527658 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.577G>A; p.V193M; 23:24505280-24505280 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.196C>T; p.L66F; 23:24494831-24494831 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.203C>G; p.P68R; 23:24494838-24494838 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.61C>T; p.R21C; 23:24465516-24465516 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1086A>G; p.S362S; 23:24533937-24533937 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.134C>A; p.S45*; 23:24494769-24494769 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.728A>G; p.H243R; 23:24526252-24526252 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.137A>G; p.Y46C; 23:24494772-24494772 |
pituitary; craniopharyngeal_duct | craniopharyngioma; papillary | Substitution - Missense |
c.883C>T; p.R295*; 23:24528106-24528106 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1133G>A; p.R378H; 23:24533984-24533984 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.955G>T; p.A319S; 23:24528178-24528178 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.685G>T; p.D229Y; 23:24526209-24526209 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.765G>A; p.A255A; 23:24527588-24527588 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.347G>T; p.R116I; 23:24503353-24503353 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.895C>T; p.R299C; 23:24528118-24528118 |
skin | malignant_melanoma | Substitution - Missense |
c.895C>T; p.R299C; 23:24528118-24528118 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1125C>T; p.S375S; 23:24533976-24533976 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.861C>A; p.D287E; 23:24528084-24528084 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.260G>T; p.S87I; 23:24498840-24498840 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.32C>T; p.P11L; 23:24465487-24465487 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.562G>C; p.D188H; 23:24505265-24505265 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.421C>T; p.P141S; 23:24503427-24503427 |
skin | malignant_melanoma | Substitution - Missense |
c.517delG; p.G174fs*11; 23:24505220-24505220 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.37C>T; p.P13S; 23:24465492-24465492 |
thyroid | carcinoma | Substitution - Missense |
c.551T>C; p.I184T; 23:24505254-24505254 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1151C>A; p.P384H; 23:24534002-24534002 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.573T>C; p.C191C; 23:24505276-24505276 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.286A>T; p.N96Y; 23:24498866-24498866 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.286A>T; p.N96Y; 23:24498866-24498866 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.304C>T; p.P102S; 23:24498884-24498884 |
skin | malignant_melanoma | Substitution - Missense |
c.122G>A; p.C41Y; 23:24494757-24494757 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.469A>G; p.N157D; 23:24503475-24503475 |
skin | malignant_melanoma | Substitution - Missense |
c.418G>C; p.D140H; 23:24503424-24503424 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.510T>C; p.L170L; 23:24505213-24505213 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.473G>A; p.R158H; 23:24503479-24503479 |
liver | carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 23:24503479-24503479 |
liver | carcinoma | Substitution - Missense |
c.752A>T; p.N251I; 23:24527575-24527575 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1084T>C; p.S362P; 23:24533935-24533935 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.674-1G>A; p.?; 23:24526197-24526197 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.666A>C; p.E222D; 23:24519003-24519003 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.656A>C; p.E219A; 23:24518993-24518993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.656A>C; p.E219A; 23:24518993-24518993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.656A>C; p.E219A; 23:24518993-24518993 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1124C>T; p.S375F; 23:24533975-24533975 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1124C>T; p.S375F; 23:24533975-24533975 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.595G>A; p.D199N; 23:24505298-24505298 |
skin | malignant_melanoma | Substitution - Missense |
c.884G>A; p.R295Q; 23:24528107-24528107 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.963+2T>C; p.?; 23:24528188-24528188 |
liver | carcinoma | Unknown |
c.299A>G; p.E100G; 23:24498879-24498879 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.379G>A; p.A127T; 23:24503385-24503385 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.689A>C; p.K230T; 23:24526213-24526213 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.378G>A; p.M126I; 23:24503384-24503384 |
pancreas | carcinoma | Substitution - Missense |
c.48C>T; p.I16I; 23:24465503-24465503 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1149G>T; p.T383T; 23:24534000-24534000 |
breast | carcinoma | Substitution - coding silent |
c.1160A>T; p.D387V; 23:24534011-24534011 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.181A>G; p.M61V; 23:24494816-24494816 |
liver | carcinoma | Substitution - Missense |
c.649G>C; p.E217Q; 23:24518986-24518986 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.838G>T; p.D280Y; 23:24527661-24527661 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.793G>A; p.E265K; 23:24527616-24527616 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.657A>G; p.E219E; 23:24518994-24518994 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.657A>G; p.E219E; 23:24518994-24518994 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.657A>G; p.E219E; 23:24518994-24518994 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.657A>G; p.E219E; 23:24518994-24518994 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1177A>T; p.S393C; 23:24534028-24534028 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.700G>C; p.V234L; 23:24526224-24526224 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |