| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 538 |
Name | ATP7A |
Synonymous | DSMAX|MK|MNK|SMAX3;ATPase, Cu++ transporting, alpha polypeptide;ATP7A;ATPase, Cu++ transporting, alpha polypeptide |
Definition | Cu++-transporting P-type ATPase|Menkes disease-associated protein|copper pump 1|copper-transporting ATPase 1 |
Position | Xq21.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ATP7A | ||
PCGP somatic mutation [Top] | ||
There is no record for ATP7A | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1655G>A; p.G552E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1610T>C; p.I537T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.617T>A; p.L206Q; |
pancreas | carcinoma |
c.1192G>T; p.V398F; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2957G>A; p.R986Q; |
oesophagus | carcinoma; adenocarcinoma |
c.2715A>G; p.T905T; |
oesophagus | carcinoma; adenocarcinoma |
c.766A>C; p.K256Q; |
oesophagus | carcinoma; adenocarcinoma |
c.2072delA; p.M692fs*1; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.3883C>T; p.R1295W; |
lung | carcinoma; adenocarcinoma |
c.602G>T; p.R201L; |
liver | carcinoma; hepatocellular_carcinoma |
c.3658+6G>T; p.?; |
liver | carcinoma |
c.443T>C; p.L148S; |
liver | carcinoma |
c.617T>A; p.L206Q; |
pancreas | carcinoma; ductal_carcinoma |
c.3801G>T; p.Q1267H; |
pancreas | other; adenoma |
c.3928G>T; p.A1310S; |
lung | carcinoma; adenocarcinoma |
c.1019C>A; p.P340Q; |
lung | carcinoma; adenocarcinoma |
c.2862G>T; p.L954F; |
lung | carcinoma; adenocarcinoma |
c.525G>T; p.M175I; |
lung | carcinoma; adenocarcinoma |
c.1535G>T; p.R512L; |
lung | carcinoma; adenocarcinoma |
c.2929A>G; p.S977G; |
lung | carcinoma; adenocarcinoma |
c.1210G>T; p.G404C; |
lung | carcinoma; adenocarcinoma |
c.1662T>A; p.T554T; |
lung | carcinoma; adenocarcinoma |
c.4076T>C; p.F1359S; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.4076T>C; p.F1359S; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1534C>T; p.R512W; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.3929C>A; p.A1310E; |
autonomic_ganglia | neuroblastoma |
c.2500G>T; p.E834*; |
pancreas | carcinoma; ductal_carcinoma |
c.314G>A; p.S105N; |
breast | carcinoma |
c.2795A>G; p.Q932R; |
breast | carcinoma; ductal_carcinoma |
c.3933G>T; p.M1311I; |
liver | carcinoma |
c.3883C>T; p.R1295W; |
large_intestine; colon | adenoma |
c.4161G>A; p.W1387*; |
lung | carcinoma; adenocarcinoma |
c.2538T>A; p.D846E; |
lung | carcinoma; squamous_cell_carcinoma |
c.4278A>G; p.I1426M; |
lung | carcinoma; squamous_cell_carcinoma |
c.3082G>T; p.G1028C; |
lung | carcinoma; squamous_cell_carcinoma |
c.1364C>A; p.A455D; |
lung | carcinoma; squamous_cell_carcinoma |
c.1536G>T; p.R512R; |
lung | carcinoma; adenocarcinoma |
c.3433G>C; p.A1145P; |
lung | carcinoma; adenocarcinoma |
c.3155G>T; p.G1052V; |
lung | carcinoma; adenocarcinoma |
c.1903G>T; p.D635Y; |
lung | carcinoma; adenocarcinoma |
c.4025T>G; p.V1342G; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.480T>C; p.C160C; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.3241G>A; p.E1081K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3316G>T; p.G1106C; |
lung | carcinoma; squamous_cell_carcinoma |
c.392C>T; p.P131L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1012G>T; p.V338L; |
lung | carcinoma; adenocarcinoma |
c.3042G>T; p.V1014V; |
lung | carcinoma; adenocarcinoma |
c.2093C>G; p.S698C; |
lung | carcinoma; squamous_cell_carcinoma |
c.4287G>C; p.K1429N; |
lung | carcinoma; squamous_cell_carcinoma |
c.3039G>T; p.M1013I; |
lung | carcinoma; adenocarcinoma |
c.3928G>T; p.A1310S; |
lung | carcinoma; adenocarcinoma |
c.2692G>T; p.G898W; |
lung | carcinoma; adenocarcinoma |
c.2090C>A; p.S697Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4397C>A; p.S1466*; |
lung | carcinoma; squamous_cell_carcinoma |
c.2286G>A; p.L762L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.3909C>A; p.I1303I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2029C>A; p.H677N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3801+2T>C; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.527A>G; p.K176R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1735G>A; p.V579I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1721C>T; p.T574M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2949G>A; p.T983T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2843T>C; p.V948A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1487G>A; p.G496D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1314G>T; p.M438I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1377G>A; p.S459S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.334G>A; p.G112S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4323T>C; p.D1441D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2473C>T; p.L825F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1789G>A; p.V597M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3499G>A; p.A1167T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3050G>C; p.G1017A; |
large_intestine; rectum | NS |
c.2968_2969insA; p.A991fs*47; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3316G>C; p.G1106R; |
breast | carcinoma |
c.2295_2296insCTA; p.L765_L766insL; |
breast | carcinoma |
c.239C>A; p.P80H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1306G>T; p.E436*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3541C>A; p.L1181I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4169C>A; p.S1390Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1729T>C; p.S577P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3479C>T; p.S1160L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.371C>A; p.T124N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.648A>G; p.Q216Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1024C>T; p.L342L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2254C>A; p.L752M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3128T>C; p.F1043S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3485C>A; p.S1162Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3816G>T; p.K1272N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.386T>C; p.I129T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1386G>A; p.P462P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3564G>A; p.M1188I; |
breast | carcinoma |
c.1059T>A; p.S353R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3104C>T; p.A1035V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4067G>A; p.R1356Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1642G>T; p.E548*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4432G>A; p.V1478I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2275G>A; p.A759T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3659-2A>G; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4305C>T; p.S1435S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.123A>C; p.V41V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.868T>C; p.S290P; |
breast | carcinoma |
c.2197A>G; p.I733V; |
breast | carcinoma |
c.824A>G; p.N275S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.368G>T; p.R123I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2383C>T; p.R795*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.890G>A; p.S297N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1455G>A; p.K485K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3967G>A; p.D1323N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1100C>A; p.P367H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2071G>T; p.E691*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2446C>A; p.Q816K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2944G>A; p.E982K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1258G>C; p.E420Q; |
urinary_tract; bladder | carcinoma |
c.2957G>A; p.R986Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3876delG; p.K1294fs*3; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1573G>A; p.A525T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2713A>G; p.T905A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2354C>A; p.P785H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.421G>A; p.E141K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3200G>T; p.R1067I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.457C>T; p.L153L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3412G>A; p.E1138K; |
breast | carcinoma |
c.1522C>T; p.R508W; |
urinary_tract; bladder | carcinoma |
c.1146C>T; p.N382N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1290G>A; p.T430T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1611A>G; p.I537M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1869+8C>G; p.?; |
prostate | carcinoma |
c.446A>G; p.D149G; |
skin | malignant_melanoma |