Entrez Gene

Basic Information
Gene ID	90952
Name	ESAM
Synonymous	endothelial cell adhesion molecule;ESAM;endothelial cell adhesion molecule
Definition	2310008D05Rik\|HUEL (C4orf1)-interacting protein\|LP4791 protein\|endothelial cell-selective adhesion molecule
Position	11q24.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.252G>T; p.V84V; 11:124756740-124756740	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.878G>A; p.R293Q; 11:124753941-124753941	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1153C>G; p.Q385E; 11:124753666-124753666	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.56G>T; p.G19V; 11:124762099-124762099	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.250-4C>T; p.?; 11:124756746-124756746	pancreas	other; adenoma	Unknown
c.466C>T; p.P156S; 11:124756348-124756348	skin	malignant_melanoma	Substitution - Missense
c.205C>T; p.P69S; 11:124758393-124758393	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.562G>T; p.D188Y; 11:124756252-124756252	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.821G>A; p.R274Q; 11:124754250-124754250	skin; extremity	malignant_melanoma	Substitution - Missense
c.514C>A; p.L172M; 11:124756300-124756300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.983C>A; p.P328H; 11:124753836-124753836	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.500G>A; p.G167E; 11:124756314-124756314	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1115G>T; p.R372L; 11:124753704-124753704	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.991T>C; p.L331L; 11:124753828-124753828	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.18G>C; p.G6G; 11:124762137-124762137	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.441C>T; p.L147L; 11:124756551-124756551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.681C>T; p.H227H; 11:124754690-124754690	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.352G>A; p.E118K; 11:124756640-124756640	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.960G>A; p.R320R; 11:124753859-124753859	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.859G>T; p.E287*; 11:124753960-124753960	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.334C>T; p.R112W; 11:124756658-124756658	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1002G>A; p.T334T; 11:124753817-124753817	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.455C>T; p.P152L; 11:124756359-124756359	skin	malignant_melanoma	Substitution - Missense
c.727A>G; p.T243A; 11:124754644-124754644	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.866C>T; p.A289V; 11:124753953-124753953	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.57G>T; p.G19G; 11:124762098-124762098	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.737G>T; p.G246V; 11:124754334-124754334	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.935C>T; p.S312F; 11:124753884-124753884	breast	carcinoma	Substitution - Missense
c.764T>A; p.V255E; 11:124754307-124754307	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.327G>C; p.L109L; 11:124756665-124756665	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.544G>A; p.A182T; 11:124756270-124756270	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.813C>T; p.Y271Y; 11:124754258-124754258	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.669C>T; p.V223V; 11:124754702-124754702	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.698C>T; p.A233V; 11:124754673-124754673	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.886C>A; p.P296T; 11:124753933-124753933	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1001C>T; p.T334M; 11:124753818-124753818	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1121G>T; p.G374V; 11:124753698-124753698	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1001C>T; p.T334M; 11:124753818-124753818	skin	malignant_melanoma	Substitution - Missense
c.692G>A; p.G231D; 11:124754679-124754679	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1107C>T; p.G369G; 11:124753712-124753712	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1163C>T; p.S388F; 11:124753656-124753656	skin	malignant_melanoma	Substitution - Missense
c.395A>G; p.D132G; 11:124756597-124756597	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.987T>G; p.G329G; 11:124753832-124753832	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.999_1000insC; p.T334fs*>58; 11:124753819-124753820	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.644C>T; p.S215L; 11:124754727-124754727	skin	malignant_melanoma	Substitution - Missense
c.1128G>A; p.V376V; 11:124753691-124753691	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.730G>T; p.G244W; 11:124754641-124754641	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.394G>A; p.D132N; 11:124756598-124756598	breast	carcinoma	Substitution - Missense
c.1046C>T; p.T349M; 11:124753773-124753773	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.588T>G; p.T196T; 11:124756226-124756226	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.225C>T; p.F75F; 11:124758373-124758373	breast	carcinoma	Substitution - coding silent
c.1123G>A; p.A375T; 11:124753696-124753696	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1123G>A; p.A375T; 11:124753696-124753696	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1147C>A; p.Q383K; 11:124753672-124753672	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.616C>T; p.R206C; 11:124754755-124754755	central_nervous_system; brain	glioma	Substitution - Missense
c.957C>T; p.L319L; 11:124753862-124753862	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1147C>A; p.Q383K; 11:124753672-124753672	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.888C>A; p.P296P; 11:124753931-124753931	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.663C>A; p.V221V; 11:124754708-124754708	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.426C>G; p.I142M; 11:124756566-124756566	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.163A>G; p.T55A; 11:124758435-124758435	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.378C>A; p.C126*; 11:124756614-124756614	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.289G>A; p.G97R; 11:124756703-124756703	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]