| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5205 |
Name | ATP8B1 |
Synonymous | ATPIC|BRIC|FIC1|PFIC|PFIC1;ATPase, aminophospholipid transporter, class I, type 8B, member 1;ATP8B1;ATPase, aminophospholipid transporter, class I, type 8B, member 1 |
Definition | ATPase, class I, type 8B, member 1|E1-E2 ATPase|familial intrahepatic cholestasis type 1|phospholipid-transporting ATPase IC|probable phospholipid-transporting ATPase IC |
Position | 18q21-q22|18q21.31 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ATP8B1 | ||
PCGP somatic mutation [Top] | ||
There is no record for ATP8B1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.3615G>A; p.R1205R; |
breast | carcinoma; ER-PR-positive_carcinoma |
c.46C>T; p.Q16*; |
lung | carcinoma; squamous_cell_carcinoma |
c.1882C>T; p.R628W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2770T>G; p.Y924D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2645G>T; p.R882M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3604G>A; p.V1202M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2018T>G; p.F673C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1135G>A; p.D379N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.370T>G; p.F124V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2601C>T; p.R867R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.3647delG; p.G1216fs*>36; |
pancreas | carcinoma; acinar_carcinoma |
c.2657C>T; p.A886V; 18:53479454-53479454 |
breast | carcinoma; ductal_carcinoma |
c.3534C>G; p.I1178M; 18:53466940-53466940 |
breast | carcinoma; ductal_carcinoma |
c.1161C>T; p.L387L; |
breast | carcinoma; luminal_NS_carcinoma |
c.2098-4C>A; p.?; 18:53486774-53486774 |
breast | carcinoma; ductal_carcinoma |
c.3531+8G>A; p.?; |
liver | carcinoma |
c.950C>A; p.T317N; 18:53512891-53512891 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1445C>T; p.A482V; 18:53503330-53503330 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3712G>A; p.V1238M; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.3711C>T; p.I1237I; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.3350T>C; p.F1117S; |
oesophagus | carcinoma; adenocarcinoma |
c.940+4C>A; p.?; 18:53513397-53513397 |
breast | carcinoma; ductal_carcinoma |
c.2069delT; p.V690fs*9; |
liver | carcinoma |
c.1622G>T; p.R541M; |
large_intestine; colon | carcinoma |
c.886C>T; p.R296C; |
large_intestine; colon | carcinoma |
c.3536A>G; p.Q1179R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.583C>G; p.Q195E; |
lung | carcinoma; adenocarcinoma |
c.2806C>G; p.L936V; |
lung | carcinoma; adenocarcinoma |
c.2714A>T; p.H905L; |
lung | carcinoma; adenocarcinoma |
c.834A>T; p.T278T; |
lung | carcinoma; adenocarcinoma |
c.1700T>G; p.F567C; |
lung | carcinoma; adenocarcinoma |
c.2420A>G; p.N807S; |
lung | carcinoma; adenocarcinoma |
c.3690G>A; p.K1230K; |
autonomic_ganglia | neuroblastoma |
c.2544G>A; p.Q848Q; |
autonomic_ganglia | neuroblastoma |
c.877A>G; p.I293V; |
pancreas | carcinoma; ductal_carcinoma |
c.3230C>A; p.A1077D; |
prostate | carcinoma |
c.1587_1589delCTT; p.F529delF; |
lung | carcinoma; small_cell_carcinoma |
c.726A>G; p.S242S; |
lung | carcinoma; small_cell_carcinoma |
c.308A>G; p.N103S; |
autonomic_ganglia | neuroblastoma |
c.3001G>T; p.G1001W; 18:53472236-53472236 |
ovary | carcinoma; serous_carcinoma |
c.1029G>A; p.T343T; |
lung | carcinoma; squamous_cell_carcinoma |
c.69C>A; p.P23P; |
lung | carcinoma; squamous_cell_carcinoma |
c.3317G>A; p.S1106N; |
lung | carcinoma; squamous_cell_carcinoma |
c.3431A>T; p.Y1144F; |
lung | carcinoma; squamous_cell_carcinoma |
c.1300G>T; p.A434S; |
lung | carcinoma; squamous_cell_carcinoma |
c.1109C>T; p.S370F; |
lung | carcinoma; adenocarcinoma |
c.577G>A; p.E193K; |
lung | carcinoma; adenocarcinoma |
c.1204A>T; p.I402F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2720G>T; p.G907V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2676A>G; p.G892G; |
ovary | carcinoma; serous_carcinoma |
c.1828C>G; p.P610A; |
ovary | carcinoma; serous_carcinoma |
c.1367C>T; p.T456M; 18:53506591-53506591 |
ovary | carcinoma; serous_carcinoma |
c.699-1G>T; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.3740G>T; p.R1247L; |
lung | carcinoma; adenocarcinoma |
c.3144C>T; p.F1048F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2609C>A; p.P870H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2115T>C; p.A705A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1366A>G; p.T456A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2584G>T; p.A862S; |
breast | carcinoma |
c.1029+1G>A; p.?; |
breast | carcinoma |
c.886C>T; p.R296C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2607C>T; p.T869T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2373delT; p.P792fs*8; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3595C>T; p.R1199C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.700G>T; p.E234*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2711C>T; p.A904V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2809C>G; p.L937V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.949A>G; p.T317A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2821C>T; p.R941*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3373C>A; p.L1125I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3490C>T; p.R1164*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1935C>A; p.I645I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3528_3531+6delTAAGgtataa; p.?; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.57C>T; p.D19D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2170G>A; p.A724T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2209+2T>C; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1769T>G; p.V590G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1132G>T; p.D378Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1005C>T; p.Y335Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.749T>A; p.L250H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2503C>T; p.R835W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2872A>C; p.N958H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1993G>T; p.E665*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.531G>A; p.T177T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2633A>G; p.D878G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.950C>T; p.T317I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1368G>T; p.T456T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1135G>T; p.D379Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3277T>C; p.S1093P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3267C>T; p.G1089G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6T>C; p.S2S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.141_152del12; p.N48_A51delNREA; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3073G>T; p.D1025Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2052C>T; p.D684D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2175C>A; p.D725E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1134C>T; p.D378D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3616C>T; p.R1206C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1993G>T; p.E665*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1300G>A; p.A434T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.716T>G; p.F239C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.994A>G; p.K332E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2658C>A; p.A886A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.949A>G; p.T317A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1445C>T; p.A482V; 18:53503330-53503330 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2425_2426insA; p.I809fs*11; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.614_615insA; p.N205fs*2; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1804C>T; p.R602*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2722G>A; p.V908I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2762C>T; p.S921L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.734T>C; p.I245T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1061G>A; p.G354D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.76G>T; p.D26Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2715C>T; p.H905H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1248T>C; p.S416S; |
breast | carcinoma |
c.858T>G; p.F286L; |
urinary_tract; bladder | carcinoma |
c.431C>T; p.T144I; |
urinary_tract; bladder | carcinoma |
c.1597G>C; p.V533L; |
urinary_tract; bladder | carcinoma |
c.1504G>A; p.D502N; |
urinary_tract; bladder | carcinoma |
c.949A>G; p.T317A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1891C>T; p.R631*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2822G>A; p.R941Q; |
urinary_tract; bladder | carcinoma |
c.1366A>G; p.T456A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3015G>T; p.Q1005H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1904C>G; p.T635S; |
skin; scalp | malignant_melanoma |
c.614delA; p.N205fs*33; |
stomach | adenocarcinoma |
c.615_616insA; p.D206fs*6; |
stomach | adenocarcinoma |