| Gene ID | 22974 |
| Symbol | TPX2 |
| Synonymous | C20orf1|C20orf2|DIL-2|DIL2|FLS353|GD:C20orf1|HCA519|HCTP4|REPP86|p100 |
| Full name | TPX2, microtubule-associated |
| Gene description | TPX2, microtubule-associated protein homolog|TPX2, microtubule-associated, homolog|differentially expressed in cancerous and non-cancerous lung cells 2|differentially expressed in lung cells|hepatocellular carcinoma-associated antigen 519|hepatocellular c |
| Cytoband | 20q11.2 |
| Gene type | protein-coding |
| Synonymous | MIM:605917; HGNC:HGNC:1249; Ensembl:ENSG00000088325; HPRD:05802; Vega:OTTHUMG00000032190 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.594T>C; p.C198C; 20:31771668-31771668 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1372C>G; p.H458D; 20:31783880-31783880 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1636G>T; p.E546*; 20:31793974-31793974 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Nonsense |
c.1927G>C; p.E643Q; 20:31797497-31797497 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1774C>T; p.P592S; 20:31794489-31794489 |
prostate | carcinoma | Substitution - Missense |
c.161T>C; p.L54P; 20:31760111-31760111 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1076C>T; p.S359F; 20:31782270-31782270 |
breast | carcinoma | Substitution - Missense |
c.1920C>A; p.P640P; 20:31797490-31797490 |
skin | malignant_melanoma | Substitution - coding silent |
c.839A>C; p.E280A; 20:31777595-31777595 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1531A>C; p.I511L; 20:31793869-31793869 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.799C>T; p.R267*; 20:31777555-31777555 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2168G>A; p.G723D; 20:31801004-31801004 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.417A>C; p.K139N; 20:31770403-31770403 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.902G>A; p.C301Y; 20:31778832-31778832 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.343G>A; p.A115T; 20:31766669-31766669 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.863G>A; p.R288Q; 20:31777619-31777619 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1903C>G; p.Q635E; 20:31797473-31797473 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.631G>A; p.E211K; 20:31775889-31775889 |
breast | carcinoma | Substitution - Missense |
c.1677G>T; p.Q559H; 20:31794015-31794015 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1260G>T; p.K420N; 20:31783768-31783768 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.546G>T; p.K182N; 20:31771620-31771620 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1372C>T; p.H458Y; 20:31783880-31783880 |
skin | malignant_melanoma | Substitution - Missense |
c.1372C>T; p.H458Y; 20:31783880-31783880 |
skin | malignant_melanoma | Substitution - Missense |
c.1372C>T; p.H458Y; 20:31783880-31783880 |
skin | malignant_melanoma | Substitution - Missense |
c.670G>T; p.E224*; 20:31775928-31775928 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.670G>T; p.E224*; 20:31775928-31775928 |
lung | carcinoma; large_cell_carcinoma | Substitution - Nonsense |
c.761T>G; p.V254G; 20:31777517-31777517 |
skin | malignant_melanoma | Substitution - Missense |
c.612G>T; p.Q204H; 20:31775870-31775870 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.939G>T; p.K313N; 20:31778869-31778869 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.939G>T; p.K313N; 20:31778869-31778869 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1138G>A; p.A380T; 20:31782332-31782332 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1391C>A; p.T464N; 20:31783899-31783899 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010G>A; p.R337Q; 20:31778940-31778940 |
skin | malignant_melanoma | Substitution - Missense |
c.268C>G; p.L90V; 20:31766594-31766594 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1260G>A; p.K420K; 20:31783768-31783768 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.849T>A; p.F283L; 20:31777605-31777605 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.872C>T; p.P291L; 20:31777628-31777628 |
skin | malignant_melanoma | Substitution - Missense |
c.800G>A; p.R267Q; 20:31777556-31777556 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.899G>T; p.G300V; 20:31778829-31778829 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1009C>T; p.R337*; 20:31778939-31778939 |
pancreas | carcinoma | Substitution - Nonsense |
c.2230C>T; p.R744*; 20:31801066-31801066 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.637C>T; p.Q213*; 20:31775895-31775895 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.967A>G; p.T323A; 20:31778897-31778897 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1632C>G; p.D544E; 20:31793970-31793970 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.78A>T; p.G26G; 20:31757554-31757554 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.890T>C; p.V297A; 20:31778820-31778820 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1306G>A; p.E436K; 20:31783814-31783814 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1519G>A; p.E507K; 20:31793857-31793857 |
skin | malignant_melanoma | Substitution - Missense |
c.214A>G; p.T72A; 20:31760164-31760164 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1883G>A; p.R628H; 20:31797453-31797453 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1883G>A; p.R628H; 20:31797453-31797453 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.158G>T; p.G53V; 20:31760108-31760108 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1376C>T; p.S459F; 20:31783884-31783884 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2061G>A; p.Q687Q; 20:31798480-31798480 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1314G>T; p.E438D; 20:31783822-31783822 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.174A>T; p.K58N; 20:31760124-31760124 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1341G>T; p.K447N; 20:31783849-31783849 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1882C>A; p.R628S; 20:31797452-31797452 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.179C>T; p.P60L; 20:31760129-31760129 |
skin | malignant_melanoma | Substitution - Missense |
c.229+1G>A; p.?; 20:31760180-31760180 |
liver | carcinoma | Unknown |
c.1109C>A; p.P370H; 20:31782303-31782303 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1109C>A; p.P370H; 20:31782303-31782303 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1109C>A; p.P370H; 20:31782303-31782303 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1230A>G; p.R410R; 20:31783738-31783738 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.229+1G>A; p.?; 20:31760180-31760180 |
liver | carcinoma | Unknown |
c.71A>G; p.D24G; 20:31757547-31757547 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.113A>G; p.K38R; 20:31760063-31760063 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1447G>A; p.V483I; 20:31792768-31792768 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1516G>T; p.D506Y; 20:31793854-31793854 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.262G>T; p.E88*; 20:31766588-31766588 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4T>C; p.S2P; 20:31757480-31757480 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2134-1G>C; p.?; 20:31800969-31800969 |
central_nervous_system; brain | glioma | Unknown |
c.452T>C; p.I151T; 20:31770438-31770438 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.107-1G>T; p.?; 20:31760056-31760056 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1669G>T; p.E557*; 20:31794007-31794007 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1669G>T; p.E557*; 20:31794007-31794007 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1627C>T; p.R543*; 20:31793965-31793965 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2138A>G; p.H713R; 20:31800974-31800974 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.597G>A; p.M199I; 20:31771671-31771671 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1504G>T; p.D502Y; 20:31792825-31792825 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1294G>A; p.G432S; 20:31783802-31783802 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1735C>T; p.L579L; 20:31794450-31794450 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1207A>T; p.K403*; 20:31783715-31783715 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.1137G>T; p.R379R; 20:31782331-31782331 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1569T>C; p.F523F; 20:31793907-31793907 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1617G>C; p.S539S; 20:31793955-31793955 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1910_1911CC>TT; p.P637L; 20:31797480-31797481 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.299G>T; p.C100F; 20:31766625-31766625 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1969C>T; p.Q657*; 20:31798388-31798388 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1969C>T; p.Q657*; 20:31798388-31798388 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1411G>T; p.V471L; 20:31783919-31783919 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1843G>A; p.E615K; 20:31797413-31797413 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1673T>C; p.L558P; 20:31794011-31794011 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.609G>A; p.K203K; 20:31775867-31775867 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1132G>A; p.A378T; 20:31782326-31782326 |
liver | carcinoma | Substitution - Missense |
c.508G>C; p.E170Q; 20:31771582-31771582 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2231G>A; p.R744Q; 20:31801067-31801067 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.880C>T; p.P294S; 20:31777636-31777636 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1022G>T; p.R341I; 20:31778952-31778952 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1196+1G>A; p.?; 20:31782391-31782391 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1392T>A; p.T464T; 20:31783900-31783900 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1945G>A; p.E649K; 20:31797515-31797515 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.631G>T; p.E211*; 20:31775889-31775889 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.405G>A; p.K135K; 20:31770391-31770391 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.826G>A; p.E276K; 20:31777582-31777582 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1209A>G; p.K403K; 20:31783717-31783717 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1209A>G; p.K403K; 20:31783717-31783717 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1268C>A; p.P423H; 20:31783776-31783776 |
skin | malignant_melanoma | Substitution - Missense |
c.1581C>T; p.I527I; 20:31793919-31793919 |
skin | malignant_melanoma | Substitution - coding silent |
c.1581C>T; p.I527I; 20:31793919-31793919 |
skin | malignant_melanoma | Substitution - coding silent |
c.1486C>T; p.R496*; 20:31792807-31792807 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1486C>T; p.R496*; 20:31792807-31792807 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.48C>T; p.F16F; 20:31757524-31757524 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1486C>T; p.R496*; 20:31792807-31792807 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1486C>T; p.R496*; 20:31792807-31792807 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1405G>T; p.D469Y; 20:31783913-31783913 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.59C>T; p.S20L; 20:31757535-31757535 |
skin | malignant_melanoma | Substitution - Missense |
c.1405G>T; p.D469Y; 20:31783913-31783913 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1518C>T; p.D506D; 20:31793856-31793856 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1518C>T; p.D506D; 20:31793856-31793856 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.21T>G; p.S7S; 20:31757497-31757497 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1580T>A; p.I527N; 20:31793918-31793918 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.739G>T; p.V247L; 20:31777495-31777495 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |