| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5168 |
Name | ENPP2 |
Synonymous | ATX|ATX-X|AUTOTAXIN|LysoPLD|NPP2|PD-IALPHA|PDNP2;ectonucleotide pyrophosphatase/phosphodiesterase 2;ENPP2;ectonucleotide pyrophosphatase/phosphodiesterase 2 |
Definition | E-NPP 2|autotaxin-t|ectonucleotide pyrophosphatase/phosphodiesterase family member 2|extracellular lysophospholipase D|phosphodiesterase I/nucleotide pyrophosphatase 2|plasma lysophospholipase D |
Position | 8q24.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ENPP2 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
ENPP2_R892Q; chr8; 120569834 |
SUB; MISSENSE; C; C/T; SOMATIC | MB; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.958C>A; p.P320T; |
lung | carcinoma; small_cell_carcinoma |
c.127C>T; p.P43S; |
lung | carcinoma; small_cell_carcinoma |
c.2352C>T; p.N784N; |
NS | malignant_melanoma |
c.905C>T; p.S302L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1324C>G; p.L442V; |
lung | carcinoma; small_cell_carcinoma |
c.2615T>C; p.M872T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.1762C>T; p.R588C; |
stomach | carcinoma; intestinal_adenocarcinoma |
c.1166G>A; p.G389E; |
liver | carcinoma |
c.1458C>G; p.H486Q; 8:120667672-120667672 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1071A>G; p.K357K; 8:120677325-120677325 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1743A>T; p.G581G; |
oesophagus | carcinoma; adenocarcinoma |
c.777G>T; p.P259P; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.17C>T; p.S6L; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.723T>G; p.T241T; |
oesophagus | carcinoma; adenocarcinoma |
c.2695C>T; p.P899S; |
oesophagus | carcinoma; adenocarcinoma |
c.846C>T; p.H282H; |
oesophagus | carcinoma; adenocarcinoma |
c.1063C>A; p.P355T; |
oesophagus | carcinoma; adenocarcinoma |
c.900-4A>T; p.?; |
liver | carcinoma; hepatocellular_carcinoma |
c.1118G>A; p.R373H; 8:120677278-120677278 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.2634G>A; p.R878R; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1189C>G; p.Q397E; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.905C>T; p.S302L; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.419-8C>T; p.?; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.302G>T; p.W101L; |
lung | carcinoma; adenocarcinoma |
c.2129G>C; p.R710P; |
lung | carcinoma; adenocarcinoma |
c.1569C>A; p.F523L; |
lung | carcinoma; adenocarcinoma |
c.870G>T; p.L290F; |
lung | carcinoma; adenocarcinoma |
c.391T>A; p.C131S; |
lung | carcinoma; adenocarcinoma |
c.1737C>G; p.T579T; |
lung | carcinoma; adenocarcinoma |
c.2162C>T; p.A721V; |
skin; extremity | malignant_melanoma |
c.1528C>T; p.P510S; |
skin; trunk | malignant_melanoma |
c.1118G>A; p.R373H; 8:120677278-120677278 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.541A>T; p.K181*; |
autonomic_ganglia | neuroblastoma |
c.744G>A; p.E248E; |
pancreas | carcinoma; ductal_carcinoma |
c.2562C>T; p.N854N; 8:120644293-120644293 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.562A>G; p.N188D; |
liver | carcinoma |
c.277C>A; p.L93M; |
lung | carcinoma; small_cell_carcinoma |
c.2675G>A; p.R892Q; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.2538C>T; p.F846F; |
autonomic_ganglia | neuroblastoma |
c.1340C>A; p.S447Y; |
lung | carcinoma; adenocarcinoma |
c.419G>A; p.G140E; |
lung | carcinoma; adenocarcinoma |
c.1537G>A; p.V513I; 8:120665457-120665457 |
ovary | carcinoma; serous_carcinoma |
c.1243G>A; p.E415K; |
lung | carcinoma; squamous_cell_carcinoma |
c.2187C>T; p.S729S; |
lung | carcinoma; squamous_cell_carcinoma |
c.728A>G; p.H243R; |
lung | carcinoma; squamous_cell_carcinoma |
c.2518C>A; p.P840T; 8:120644337-120644337 |
ovary | carcinoma; serous_carcinoma |
c.294C>A; p.A98A; |
ovary | carcinoma; serous_carcinoma |
c.1932A>G; p.T644T; |
lung | carcinoma; squamous_cell_carcinoma |
c.1785C>T; p.T595T; |
lung | carcinoma; squamous_cell_carcinoma |
c.1231G>A; p.D411N; |
lung | carcinoma; squamous_cell_carcinoma |
c.156G>T; p.W52C; |
lung | carcinoma; adenocarcinoma |
c.579G>T; p.R193S; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.887C>A; p.P296Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.590C>T; p.T197I; |
lung; left_upper_lobe | carcinoma; adenocarcinoma |
c.377C>G; p.A126G; |
lung | carcinoma; squamous_cell_carcinoma |
c.2605G>A; p.E869K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1529C>T; p.P510L; |
lung | carcinoma; adenocarcinoma |
c.1565T>A; p.F522Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1854C>A; p.G618G; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.285G>A; p.L95L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2724G>A; p.L908L; |
lung | carcinoma; squamous_cell_carcinoma |
c.664T>C; p.Y222H; |
lung | carcinoma; squamous_cell_carcinoma |
c.2262G>T; p.M754I; |
lung | carcinoma; adenocarcinoma |
c.968C>A; p.P323H; |
lung | carcinoma; adenocarcinoma |
c.1723C>G; p.P575A; |
lung | carcinoma; squamous_cell_carcinoma |
c.1717C>T; p.P573S; |
lung | carcinoma; squamous_cell_carcinoma |
c.1754A>G; p.H585R; |
breast | carcinoma |
c.1568delT; p.F523fs*19; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.283T>G; p.L95V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2203C>G; p.P735A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2515G>A; p.G839S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1153G>A; p.D385N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2520T>C; p.P840P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1124A>C; p.D375A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1109C>T; p.A370V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2147G>A; p.S716N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.880A>G; p.T294A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1405C>A; p.P469T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1262G>T; p.R421I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.975G>T; p.E325D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2198T>C; p.L733P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.507C>A; p.F169L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1131G>T; p.M377I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.136G>A; p.V46M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1924G>A; p.G642R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.846C>G; p.H282Q; |
breast | carcinoma |
c.2288-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2116C>T; p.R706W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2503G>A; p.D835N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2287+1G>A; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1259A>G; p.D420G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.733C>T; p.R245*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1450C>T; p.R484C; |
breast | carcinoma |
c.1340C>T; p.S447F; |
breast | carcinoma |
c.1073G>T; p.R358I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.939C>A; p.F313L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.426G>A; p.S142S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.328G>T; p.E110*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1073G>T; p.R358I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1070A>G; p.K357R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1539T>C; p.V513V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1117C>T; p.R373C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.846C>T; p.H282H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.349G>T; p.A117S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2516G>T; p.G839V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.426G>A; p.S142S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.62G>A; p.G21E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.95G>A; p.R32Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2741A>G; p.E914G; |
breast | carcinoma |
c.1446C>G; p.P482P; |
breast | carcinoma |
c.1099C>T; p.H367Y; |
breast | carcinoma |
c.1267G>C; p.E423Q; |
breast | carcinoma |
c.353G>A; p.C118Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1749G>A; p.L583L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1545G>T; p.K515N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1677T>C; p.I559I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1300G>T; p.D434Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.343G>T; p.E115*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1369C>T; p.P457S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1562G>T; p.C521F; |
breast | carcinoma |
c.1517T>C; p.V506A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1158A>C; p.K386N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1702C>A; p.L568I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2560A>G; p.N854D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2560A>G; p.N854D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2275C>G; p.P759A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2322G>T; p.K774N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1331G>T; p.R444I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.537G>T; p.M179I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2510G>A; p.C837Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1909C>T; p.R637W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1964C>T; p.A655V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1331G>T; p.R444I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.426G>A; p.S142S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1539T>C; p.V513V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2520T>C; p.P840P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2562C>T; p.N854N; 8:120644293-120644293 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2373C>T; p.F791F; |
urinary_tract; bladder | carcinoma |
c.2616G>A; p.M872I; |
prostate | carcinoma; adenocarcinoma |
c.240T>G; p.C80W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2088C>T; p.S696S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1456C>T; p.H486Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.780A>G; p.L260L; |
urinary_tract; bladder | carcinoma |
c.1070A>G; p.K357R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.487C>T; p.R163C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1480G>C; p.E494Q; |
urinary_tract; bladder | carcinoma |
c.601T>C; p.Y201H; |
prostate | carcinoma |
c.1529C>T; p.P510L; |
skin | malignant_melanoma |
c.2584G>A; p.E862K; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.1306A>G; p.T436A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2300A>G; p.Y767C; |
stomach | adenocarcinoma |