| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 10257 |
Name | ABCC4 |
Synonymous | EST170205|MOAT-B|MOATB|MRP4;ATP-binding cassette, sub-family C (CFTR/MRP), member 4;ABCC4;ATP-binding cassette, sub-family C (CFTR/MRP), member 4 |
Definition | ATP-binding cassette sub-family C member 4|MRP/cMOAT-related ABC transporter|bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)|canalicular multispecific organic anion transporter (ABC superfamily)|multi-specific organic anion transporter |
Position | 13q32 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ABCC4 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
ABCC4_E680E; chr13; 95816767 |
SUB; SILENT; C; C/T; SOMATIC | HYPO; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.665C>G; p.A222G; |
liver | carcinoma; hepatocellular_carcinoma |
c.1151G>A; p.R384Q; |
liver | carcinoma; hepatocellular_carcinoma |
c.1701_1702GG>AA; p.E568K; |
NS | malignant_melanoma |
c.1701_1702GG>AA; p.E568K; |
NS | malignant_melanoma |
c.1594G>A; p.G532R; |
lung | carcinoma; small_cell_carcinoma |
c.753A>T; p.Q251H; |
NS | NS |
c.3608C>T; p.A1203V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2963C>T; p.T988M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.101G>A; p.G34D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3871-3delt; p.?; |
NS | malignant_melanoma |
c.1860C>T; p.F620F; |
skin; abdomen | malignant_melanoma |
c.720G>A; p.G240G; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.564G>C; p.K188N; |
oesophagus | carcinoma; adenocarcinoma |
c.2074delT; p.S692fs*29; |
liver | carcinoma |
c.3362C>T; p.P1121L; |
liver | carcinoma |
c.3629+5A>T; p.?; |
liver | carcinoma |
c.806C>T; p.T269M; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; large_cell |
c.640T>C; p.F214L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.449T>C; p.I150T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1295C>T; p.S432F; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.2672G>T; p.R891L; |
lung | carcinoma; adenocarcinoma |
c.2872A>T; p.M958L; |
lung | carcinoma; adenocarcinoma |
c.3326G>C; p.G1109A; |
lung | carcinoma; adenocarcinoma |
c.2686+1G>A; p.?; |
lung | carcinoma; adenocarcinoma |
c.86C>T; p.P29L; |
skin; trunk | malignant_melanoma |
c.1208C>T; p.P403L; |
large_intestine; caecum | adenoma |
c.3802C>A; p.L1268I; |
autonomic_ganglia | neuroblastoma |
c.3867A>G; p.K1289K; |
liver | carcinoma |
c.1823A>T; p.D608V; |
liver | carcinoma |
c.798A>T; p.A266A; |
lung | carcinoma; small_cell_carcinoma |
c.2848G>A; p.V950I; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.2308G>C; p.G770R; 13:94613377-94613377 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2308G>C; p.G770R; 13:94613377-94613377 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3835G>A; p.A1279T; 13:94484895-94484895 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3835G>A; p.A1279T; 13:94484895-94484895 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1104C>T; p.F368F; 13:94656844-94656844 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1104C>T; p.F368F; 13:94656844-94656844 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3089G>T; p.R1030L; |
lung | carcinoma; adenocarcinoma |
c.1715A>T; p.H572L; |
lung | carcinoma; adenocarcinoma |
c.3316A>G; p.T1106A; |
lung | carcinoma; squamous_cell_carcinoma |
c.952G>A; p.G318R; |
ovary | carcinoma; serous_carcinoma |
c.647G>T; p.W216L; |
lung | carcinoma; adenocarcinoma |
c.2681C>G; p.S894C; |
lung | carcinoma; adenocarcinoma |
c.1264-1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.1964C>G; p.S655*; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.3174G>A; p.L1058L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.619C>T; p.Q207*; |
lung | carcinoma; adenocarcinoma |
c.1349G>T; p.G450V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3411C>T; p.P1137P; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.110G>A; p.R37Q; |
lung | carcinoma; adenocarcinoma |
c.1991C>G; p.S664C; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.3366G>T; p.Q1122H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.872G>A; p.W291*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2215G>A; p.A739T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1314C>T; p.G438G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1102T>C; p.F368L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3655delA; p.I1219fs*11; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1665C>T; p.I555I; |
breast | carcinoma |
c.137C>T; p.S46L; |
breast | carcinoma |
c.403T>C; p.Y135H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1067C>A; p.T356K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3837A>G; p.A1279A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3655delA; p.I1219fs*11; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2831C>T; p.T944M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3963C>T; p.F1321F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1151G>A; p.R384Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.670G>A; p.A224T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.502G>A; p.V168I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.721A>G; p.M241V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2689C>T; p.R897W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3197A>C; p.K1066T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.346A>G; p.I116V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3736-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2593G>A; p.A865T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1339G>A; p.V447M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3243A>C; p.K1081N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2491C>T; p.H831Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1503G>T; p.K501N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3655delA; p.I1219fs*11; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1574T>C; p.L525P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1757T>C; p.I586T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1685T>G; p.L562R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.941C>G; p.S314C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.90G>A; p.L30L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2848G>A; p.V950I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3052G>T; p.D1018Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1698T>C; p.D566D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1339G>A; p.V447M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1204C>T; p.L402L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3314C>A; p.T1105K; |
breast | carcinoma |
c.3569C>A; p.A1190E; |
breast | carcinoma |
c.666G>T; p.A222A; |
breast | carcinoma |
c.1529C>T; p.A510V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3205G>T; p.E1069*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1162-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3948G>A; p.S1316S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1563G>T; p.E521D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2992C>T; p.R998*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2807-1G>A; p.?; |
urinary_tract; bladder | carcinoma |
c.3619G>A; p.V1207M; |
breast | carcinoma |
c.2308+2T>C; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2158C>T; p.L720L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.587A>G; p.N196S; |
prostate | carcinoma; adenocarcinoma |
c.606G>T; p.V202V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1588G>T; p.D530Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2308+1G>A; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3566G>T; p.R1189M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2648delT; p.L883fs*7; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3837A>G; p.A1279A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3392T>C; p.M1131T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.832G>T; p.E278*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.273T>G; p.S91S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2639G>A; p.R880Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.269A>C; p.K90T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.434C>T; p.T145M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2308+1G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2308+2T>G; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.198A>T; p.K66N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1270G>A; p.E424K; |
urinary_tract; bladder | carcinoma |
c.2308+1G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2003C>T; p.S668F; |
skin; acral | malignant_melanoma |
c.1295C>T; p.S432F; |
skin | malignant_melanoma |
c.1099C>T; p.L367F; |
skin | malignant_melanoma |
c.378G>A; p.M126I; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.3271T>A; p.L1091M; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1888C>G; p.L630V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |