Entrez Gene

Basic Information
Gene ID	57125
Name	PLXDC1
Synonymous	plexin domain containing 1;PLXDC1;plexin domain containing 1
Definition	2410003I07Rik\|plexin domain-containing protein 1\|tumor endothelial marker 3\|tumor endothelial marker 7
Position	17q21.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.470-6C>A; p.?; 17:39108251-39108251	pancreas	carcinoma	Unknown
c.1364C>A; p.A455D; 17:39069875-39069875	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.905C>T; p.P302L; 17:39087609-39087609	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1359C>T; p.S453S; 17:39069880-39069880	skin	malignant_melanoma	Substitution - coding silent
c.186G>T; p.Q62H; 17:39139723-39139723	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1016G>A; p.R339H; 17:39079138-39079138	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.845G>A; p.R282H; 17:39087669-39087669	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.845G>A; p.R282H; 17:39087669-39087669	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.845G>A; p.R282H; 17:39087669-39087669	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.845G>A; p.R282H; 17:39087669-39087669	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.845G>A; p.R282H; 17:39087669-39087669	large_intestine; colon	carcinoma	Substitution - Missense
c.845G>A; p.R282H; 17:39087669-39087669	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1119C>T; p.F373F; 17:39077980-39077980	breast	carcinoma	Substitution - coding silent
c.284G>A; p.R95H; 17:39109363-39109363	liver	carcinoma	Substitution - Missense
c.483G>A; p.M161I; 17:39108232-39108232	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.228G>T; p.T76T; 17:39139681-39139681	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.401G>C; p.R134T; 17:39108972-39108972	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.802G>A; p.D268N; 17:39105863-39105863	skin	malignant_melanoma	Substitution - Missense
c.398C>T; p.S133L; 17:39109249-39109249	breast	carcinoma	Substitution - Missense
c.885C>T; p.A295A; 17:39087629-39087629	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.882G>A; p.S294S; 17:39087632-39087632	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.689G>A; p.R230H; 17:39107429-39107429	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.403G>A; p.V135M; 17:39108970-39108970	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1154C>T; p.S385F; 17:39077945-39077945	skin	malignant_melanoma	Substitution - Missense
c.403G>A; p.V135M; 17:39108970-39108970	urinary_tract; bladder	carcinoma	Substitution - Missense
c.821G>A; p.R274Q; 17:39087693-39087693	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.519G>T; p.Q173H; 17:39108196-39108196	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.821G>A; p.R274Q; 17:39087693-39087693	skin	malignant_melanoma	Substitution - Missense
c.425C>G; p.P142R; 17:39108948-39108948	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1040G>A; p.C347Y; 17:39079114-39079114	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1446G>C; p.A482A; 17:39067897-39067897	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.933C>T; p.D311D; 17:39083515-39083515	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1312G>T; p.A438S; 17:39069927-39069927	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.316G>A; p.E106K; 17:39109331-39109331	skin	malignant_melanoma	Substitution - Missense
c.1417C>T; p.R473C; 17:39067926-39067926	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1417C>T; p.R473C; 17:39067926-39067926	skin	malignant_melanoma	Substitution - Missense
c.282C>T; p.S94S; 17:39109365-39109365	skin	malignant_melanoma	Substitution - coding silent
c.256-1G>A; p.?; 17:39109392-39109392	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1132G>A; p.G378R; 17:39077967-39077967	skin; abdomen	malignant_melanoma	Substitution - Missense
c.495C>G; p.I165M; 17:39108220-39108220	liver	carcinoma	Substitution - Missense
c.729G>A; p.P243P; 17:39105936-39105936	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.185A>T; p.Q62L; 17:39139724-39139724	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.500G>T; p.R167L; 17:39108215-39108215	genital_tract; extragonadal	germ_cell_tumour; yolk_sac_tumour	Substitution - Missense
c.1084G>A; p.E362K; 17:39078015-39078015	skin	malignant_melanoma	Substitution - Missense
c.228G>A; p.T76T; 17:39139681-39139681	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.400-1G>A; p.?; 17:39108974-39108974	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.200T>A; p.L67Q; 17:39139709-39139709	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.684C>T; p.D228D; 17:39107434-39107434	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1149C>G; p.T383T; 17:39077950-39077950	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.399+2T>G; p.?; 17:39109246-39109246	pancreas	carcinoid-endocrine_tumour	Unknown
c.1406C>T; p.A469V; 17:39067937-39067937	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1010G>A; p.R337H; 17:39079144-39079144	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.806T>G; p.V269G; 17:39105859-39105859	skin	malignant_melanoma	Substitution - Missense
c.81C>T; p.H27H; 17:39139828-39139828	ovary	other; neoplasm	Substitution - coding silent
c.881C>T; p.S294L; 17:39087633-39087633	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1381G>A; p.E461K; 17:39069858-39069858	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.213C>A; p.T71T; 17:39139696-39139696	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.213C>A; p.T71T; 17:39139696-39139696	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1152C>A; p.S384S; 17:39077947-39077947	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1368G>A; p.A456A; 17:39069871-39069871	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1168G>A; p.D390N; 17:39077931-39077931	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.107C>A; p.A36D; 17:39139802-39139802	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.500G>A; p.R167Q; 17:39108215-39108215	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.399G>A; p.S133S; 17:39109248-39109248	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.399G>A; p.S133S; 17:39109248-39109248	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.399G>A; p.S133S; 17:39109248-39109248	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.137G>A; p.R46Q; 17:39139772-39139772	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.408C>T; p.V136V; 17:39108965-39108965	skin	malignant_melanoma	Substitution - coding silent
c.137G>A; p.R46Q; 17:39139772-39139772	skin	malignant_melanoma	Substitution - Missense
c.761C>T; p.T254I; 17:39105904-39105904	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.391C>T; p.Q131*; 17:39109256-39109256	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.163G>A; p.V55M; 17:39139746-39139746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1447G>A; p.E483K; 17:39067896-39067896	skin	malignant_melanoma	Substitution - Missense
c.704A>G; p.Y235C; 17:39107414-39107414	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.486G>A; p.G162G; 17:39108229-39108229	skin	malignant_melanoma	Substitution - coding silent
c.1237C>A; p.L413M; 17:39070002-39070002	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.821G>T; p.R274L; 17:39087693-39087693	pancreas	carcinoma	Substitution - Missense
c.1385G>A; p.R462H; 17:39067958-39067958	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1385G>A; p.R462H; 17:39067958-39067958	thyroid	other; neoplasm	Substitution - Missense
c.377C>T; p.S126F; 17:39109270-39109270	skin; scalp	malignant_melanoma	Substitution - Missense
c.577G>A; p.V193I; 17:39108138-39108138	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1133G>A; p.G378E; 17:39077966-39077966	skin	malignant_melanoma	Substitution - Missense
c.1133G>A; p.G378E; 17:39077966-39077966	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.682G>A; p.D228N; 17:39107436-39107436	breast	carcinoma	Substitution - Missense
c.1430A>C; p.D477A; 17:39067913-39067913	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.337G>A; p.E113K; 17:39109310-39109310	pancreas	carcinoma	Substitution - Missense
c.722C>T; p.S241F; 17:39105943-39105943	skin	malignant_melanoma	Substitution - Missense
c.560C>T; p.S187F; 17:39108155-39108155	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.150G>A; p.E50E; 17:39139759-39139759	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.840T>C; p.Y280Y; 17:39087674-39087674	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.5G>A; p.R2Q; 17:39151433-39151433	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1127A>G; p.Y376C; 17:39077972-39077972	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1009C>T; p.R337C; 17:39079145-39079145	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1009C>T; p.R337C; 17:39079145-39079145	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.143C>G; p.A48G; 17:39139766-39139766	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1313C>T; p.A438V; 17:39069926-39069926	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.314G>A; p.R105Q; 17:39109333-39109333	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.314G>A; p.R105Q; 17:39109333-39109333	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.131G>A; p.W44*; 17:39139778-39139778	skin	malignant_melanoma	Substitution - Nonsense
c.163G>T; p.V55L; 17:39139746-39139746	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1352C>A; p.P451H; 17:39069887-39069887	ovary	other; neoplasm	Substitution - Missense
c.423C>T; p.F141F; 17:39108950-39108950	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.323G>A; p.W108*; 17:39109324-39109324	skin	malignant_melanoma	Substitution - Nonsense
c.906G>A; p.P302P; 17:39087608-39087608	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.25G>T; p.V9L; 17:39151413-39151413	liver	carcinoma	Substitution - Missense
c.25G>T; p.V9L; 17:39151413-39151413	liver	carcinoma	Substitution - Missense
c.911G>C; p.C304S; 17:39083537-39083537	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1222G>C; p.G408R; 17:39072450-39072450	skin	malignant_melanoma	Substitution - Missense
c.1212A>C; p.A404A; 17:39072460-39072460	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]