| Gene ID | 3373 |
| Symbol | HYAL1 |
| Synonymous | HYAL-1|LUCA1|MPS9|NAT6 |
| Full name | hyaluronoglucosaminidase 1 |
| Gene description | hyaluronidase-1|luCa-1|lung carcinoma protein 1|plasma hyaluronidase|tumor suppressor LUCA-1 |
| Cytoband | 3p21.31 |
| Gene type | protein-coding |
| Synonymous | MIM:607071; HGNC:HGNC:5320; Ensembl:ENSG00000114378; HPRD:06146; Vega:OTTHUMG00000156941 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.392A>G; p.E131G; 3:50302565-50302565 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.394G>A; p.A132T; 3:50302563-50302563 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1233G>C; p.Q411H; 3:50300558-50300558 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734G>C; p.S245T; 3:50302223-50302223 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.719G>A; p.R240H; 3:50302238-50302238 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.391G>A; p.E131K; 3:50302566-50302566 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.719G>A; p.R240H; 3:50302238-50302238 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.368C>G; p.S123*; 3:50302589-50302589 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1112G>A; p.R371H; 3:50300679-50300679 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.826G>T; p.A276S; 3:50302131-50302131 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.932C>T; p.A311V; 3:50301046-50301046 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1176G>A; p.T392T; 3:50300615-50300615 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.539G>A; p.R180Q; 3:50302418-50302418 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.543C>A; p.A181A; 3:50302414-50302414 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1298G>A; p.S433N; 3:50300493-50300493 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.637C>A; p.L213I; 3:50302320-50302320 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.299C>T; p.A100V; 3:50302658-50302658 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.860T>A; p.V287D; 3:50302097-50302097 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.528G>T; p.Q176H; 3:50302429-50302429 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.228C>T; p.S76S; 3:50302729-50302729 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.151G>A; p.V51M; 3:50302806-50302806 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.179C>T; p.A60V; 3:50302778-50302778 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.24C>G; p.I8M; 3:50302933-50302933 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.169G>A; p.D57N; 3:50302788-50302788 |
oesophagus | carcinoma | Substitution - Missense |
c.1125C>T; p.H375H; 3:50300666-50300666 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - coding silent |
c.680C>T; p.A227V; 3:50302277-50302277 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.904G>A; p.E302K; 3:50301074-50301074 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.571C>T; p.R191W; 3:50302386-50302386 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1262A>G; p.Y421C; 3:50300529-50300529 |
skin; ankle | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.240C>T; p.G80G; 3:50302717-50302717 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.972G>A; p.W324*; 3:50301006-50301006 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.733A>G; p.S245G; 3:50302224-50302224 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.662G>A; p.C221Y; 3:50302295-50302295 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.676C>T; p.R226C; 3:50302281-50302281 |
skin | malignant_melanoma | Substitution - Missense |
c.1A>G; p.M1V; 3:50302956-50302956 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.878C>T; p.T293M; 3:50302079-50302079 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.721G>A; p.A241T; 3:50302236-50302236 |
ovary | other; neoplasm | Substitution - Missense |
c.1093G>A; p.G365S; 3:50300698-50300698 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.272C>A; p.P91H; 3:50302685-50302685 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1159T>C; p.F387L; 3:50300632-50300632 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.72C>A; p.G24G; 3:50302885-50302885 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.820G>C; p.V274L; 3:50302137-50302137 |
oesophagus | carcinoma | Substitution - Missense |
c.766G>A; p.G256R; 3:50302191-50302191 |
breast | carcinoma | Substitution - Missense |
c.766G>A; p.G256R; 3:50302191-50302191 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.347C>T; p.A116V; 3:50302610-50302610 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.424G>A; p.D142N; 3:50302533-50302533 |
skin | malignant_melanoma | Substitution - Missense |
c.1291C>T; p.R431W; 3:50300500-50300500 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1219G>A; p.E407K; 3:50300572-50300572 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.943_944insG; p.A315fs*69; 3:50301034-50301035 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.505_506GC>AA; p.A169>?; 3:50302451-50302452 |
prostate | carcinoma | Complex |
c.323G>A; p.R108H; 3:50302634-50302634 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.33C>T; p.L11L; 3:50302924-50302924 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.901-2A>G; p.?; 3:50301079-50301079 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.925G>A; p.E309K; 3:50301053-50301053 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.925G>A; p.E309K; 3:50301053-50301053 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1143C>T; p.L381L; 3:50300648-50300648 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.718C>T; p.R240C; 3:50302239-50302239 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.134A>G; p.E45G; 3:50302823-50302823 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.127T>C; p.C43R; 3:50302830-50302830 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.48C>A; p.L16L; 3:50302909-50302909 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |