| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 10855 |
Name | HPSE |
Synonymous | HPA|HPA1|HPR1|HPSE1|HSE1;heparanase;HPSE;heparanase |
Definition | endo-glucoronidase|heparanase-1 |
Position | 4q21.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for HPSE | ||
PCGP somatic mutation [Top] | ||
There is no record for HPSE | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.29C>T; p.P10L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1157T>G; p.F386C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1202T>C; p.L401S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.1411_1412insT; p.S471fs*2; |
liver | carcinoma |
c.765G>A; p.K255K; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1394G>A; p.R465Q; |
lung | carcinoma; adenocarcinoma |
c.1039G>T; p.A347S; |
lung | carcinoma; adenocarcinoma |
c.940G>A; p.D314N; |
skin; extremity | malignant_melanoma |
c.1549C>T; p.R517W; |
prostate | carcinoma |
c.578G>A; p.R193K; |
bone | chondrosarcoma |
c.1316A>T; p.N439I; |
autonomic_ganglia | neuroblastoma |
c.802G>A; p.V268I; 4:84450939-84450939 |
ovary | carcinoma; serous_carcinoma |
c.1013A>G; p.K338R; |
lung | carcinoma; squamous_cell_carcinoma |
c.1576G>A; p.A526T; |
lung | carcinoma; squamous_cell_carcinoma |
c.1099G>C; p.D367H; |
lung | carcinoma; squamous_cell_carcinoma |
c.55G>A; p.G19R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1498C>T; p.L500L; |
lung | carcinoma; adenocarcinoma |
c.1109G>T; p.G370V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.10C>A; p.R4S; |
breast | carcinoma |
c.1122A>C; p.R374R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1055C>T; p.A352V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.748C>A; p.H250N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.992A>G; p.E331G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.803T>C; p.V268A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.158G>A; p.S53N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.720G>A; p.S240S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1393C>T; p.R465W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1354C>T; p.L452L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1194C>T; p.F398F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.706T>G; p.F236V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.416A>G; p.K139R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.569C>T; p.A190V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1042T>C; p.Y348H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1194C>T; p.F398F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1036T>C; p.S346P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.744A>T; p.Q248H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1194C>T; p.F398F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1142T>A; p.M381K; |
breast | carcinoma |
c.1587_1588delTA; p.Y529fs*1; |
breast | carcinoma |
c.296C>T; p.T99I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1371C>T; p.L457L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.940G>A; p.D314N; |
urinary_tract; bladder | carcinoma |
c.871G>C; p.D291H; |
urinary_tract; bladder | carcinoma |
c.1283G>A; p.R428K; |
urinary_tract; bladder | carcinoma |
c.757C>A; p.L253I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.803T>C; p.V268A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.802G>A; p.V268I; 4:84450939-84450939 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.787C>A; p.L263I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.843-1G>T; p.?; |
breast | carcinoma |
c.116T>A; p.V39E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.558T>A; p.F186L; |
breast | carcinoma |
c.920A>G; p.K307R; |
prostate | carcinoma; adenocarcinoma |
c.803T>C; p.V268A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.272A>T; p.Y91F; |
prostate | carcinoma |
c.434C>T; p.P145L; |
skin | malignant_melanoma |