| Gene ID | 11082 |
| Symbol | ESM1 |
| Synonymous | endocan |
| Full name | endothelial cell-specific molecule 1 |
| Gene description | ESM-1 |
| Cytoband | 5q11.2 |
| Gene type | protein-coding |
| Synonymous | MIM:601521; HGNC:HGNC:3466; Ensembl:ENSG00000164283; HPRD:03310; Vega:OTTHUMG00000097010 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.328G>T; p.D110Y; 5:54982120-54982120 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.292A>G; p.I98V; 5:54985226-54985226 |
skin | malignant_melanoma | Substitution - Missense |
c.379G>A; p.G127R; 5:54982069-54982069 |
skin | malignant_melanoma | Substitution - Missense |
c.322G>T; p.G108W; 5:54982126-54982126 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.171C>T; p.C57C; 5:54985347-54985347 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.171C>T; p.C57C; 5:54985347-54985347 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.313G>A; p.G105S; 5:54982135-54982135 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.209C>T; p.S70L; 5:54985309-54985309 |
skin | malignant_melanoma | Substitution - Missense |
c.181C>T; p.R61W; 5:54985337-54985337 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.277G>C; p.G93R; 5:54985241-54985241 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.181C>T; p.R61W; 5:54985337-54985337 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.163C>T; p.R55*; 5:54985355-54985355 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.421A>C; p.K141Q; 5:54982027-54982027 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.380G>A; p.G127E; 5:54982068-54982068 |
skin | malignant_melanoma | Substitution - Missense |
c.432C>T; p.N144N; 5:54982016-54982016 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.34G>A; p.V12M; 5:54985484-54985484 |
liver | carcinoma | Substitution - Missense |
c.439G>C; p.V147L; 5:54982009-54982009 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.525C>T; p.P175P; 5:54979362-54979362 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.485T>C; p.V162A; 5:54979402-54979402 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.337G>T; p.E113*; 5:54982111-54982111 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.147C>T; p.D49D; 5:54985371-54985371 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.359G>A; p.G120D; 5:54982089-54982089 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.523C>T; p.P175S; 5:54979364-54979364 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.350G>A; p.C117Y; 5:54982098-54982098 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.26C>T; p.T9M; 5:54985492-54985492 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.307C>T; p.P103S; 5:54982141-54982141 |
skin | malignant_melanoma | Substitution - Missense |
c.554G>T; p.*185L; 5:54979333-54979333 |
breast | carcinoma; ductal_carcinoma | Nonstop extension |
c.490G>A; p.E164K; 5:54979397-54979397 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.182G>A; p.R61Q; 5:54985336-54985336 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.324G>A; p.G108G; 5:54982124-54982124 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.534G>A; p.R178R; 5:54979353-54979353 |
skin | malignant_melanoma | Substitution - coding silent |
c.117C>A; p.S39R; 5:54985401-54985401 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.534G>A; p.R178R; 5:54979353-54979353 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.273T>C; p.P91P; 5:54985245-54985245 |
skin | malignant_melanoma | Substitution - coding silent |
c.60G>A; p.W20*; 5:54985458-54985458 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.21G>C; p.L7L; 5:54985497-54985497 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.124C>T; p.R42C; 5:54985394-54985394 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.449C>T; p.T150M; 5:54981999-54981999 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.449C>T; p.T150M; 5:54981999-54981999 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.280G>A; p.E94K; 5:54985238-54985238 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.360C>A; p.G120G; 5:54982088-54982088 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.12C>T; p.V4V; 5:54985506-54985506 |
skin | malignant_melanoma | Substitution - coding silent |
c.33C>T; p.L11L; 5:54985485-54985485 |
skin | malignant_melanoma | Substitution - coding silent |
c.516C>T; p.A172A; 5:54979371-54979371 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.526G>A; p.V176I; 5:54979361-54979361 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.397C>T; p.P133S; 5:54982051-54982051 |
skin | malignant_melanoma | Substitution - Missense |
c.475G>A; p.G159S; 5:54979412-54979412 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.274T>C; p.F92L; 5:54985244-54985244 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.272C>T; p.P91L; 5:54985246-54985246 |
skin | malignant_melanoma | Substitution - Missense |
c.439G>A; p.V147I; 5:54982009-54982009 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.252G>A; p.Q84Q; 5:54985266-54985266 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.490G>T; p.E164*; 5:54979397-54979397 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.458A>T; p.D153V; 5:54979429-54979429 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.378G>T; p.T126T; 5:54982070-54982070 |
skin | malignant_melanoma | Substitution - coding silent |
c.493G>A; p.E165K; 5:54979394-54979394 |
skin | malignant_melanoma | Substitution - Missense |
c.46C>T; p.L16L; 5:54985472-54985472 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.76G>A; p.V26M; 5:54985442-54985442 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.339G>A; p.E113E; 5:54982109-54982109 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.339G>A; p.E113E; 5:54982109-54982109 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.371G>A; p.R124K; 5:54982077-54982077 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.245G>C; p.R82T; 5:54985273-54985273 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.354G>A; p.Q118Q; 5:54982094-54982094 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.217G>A; p.D73N; 5:54985301-54985301 |
skin | malignant_melanoma | Substitution - Missense |
c.31C>T; p.L11F; 5:54985487-54985487 |
skin | malignant_melanoma | Substitution - Missense |
c.179G>T; p.G60V; 5:54985339-54985339 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.464C>A; p.A155E; 5:54979423-54979423 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |