| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 54363 |
Name | HAO1 |
Synonymous | GOX|GOX1|HAOX1;hydroxyacid oxidase (glycolate oxidase) 1;HAO1;hydroxyacid oxidase (glycolate oxidase) 1 |
Definition | (S)-2-hydroxy-acid oxidase|glycolate oxidase|hydroxyacid oxidase 1 |
Position | 20p12 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for HAO1 | ||
PCGP somatic mutation [Top] | ||
There is no record for HAO1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.976G>T; p.E326*; |
lung | carcinoma; small_cell_carcinoma |
c.1099G>T; p.V367F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1099G>T; p.V367F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.251G>A; p.R84H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.251G>A; p.R84H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.991G>T; p.D331Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.148T>C; p.Y50H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.381T>G; p.R127R; |
oesophagus | carcinoma; adenocarcinoma |
c.642C>T; p.D214D; |
oesophagus | carcinoma; adenocarcinoma |
c.624T>C; p.Y208Y; |
oesophagus | carcinoma; adenocarcinoma |
c.883C>G; p.R295G; |
lung | carcinoma; small_cell_carcinoma |
c.163C>T; p.R55W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.451G>T; p.G151C; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1112G>T; p.*371L; |
large_intestine; colon | carcinoma |
c.1010A>T; p.K337M; |
lung | carcinoma; adenocarcinoma |
c.604G>C; p.D202H; |
lung | carcinoma; adenocarcinoma |
c.278C>G; p.A93G; |
lung | carcinoma; adenocarcinoma |
c.265G>T; p.D89Y; |
lung | carcinoma; adenocarcinoma |
c.1032G>C; p.M344I; |
lung | carcinoma; adenocarcinoma |
c.271G>A; p.E91K; |
skin; trunk | malignant_melanoma |
c.189G>T; p.S63S; |
autonomic_ganglia | neuroblastoma |
c.760G>T; p.G254W; |
lung | carcinoma; adenocarcinoma |
c.538C>G; p.Q180E; |
lung | carcinoma; adenocarcinoma |
c.103G>T; p.E35*; |
lung | carcinoma; adenocarcinoma |
c.10C>T; p.R4W; 20:7869060-7869060 |
ovary | carcinoma; serous_carcinoma |
c.601G>T; p.D201Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.814-1G>T; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.138A>T; p.R46S; 20:7863282-7863282 |
ovary | carcinoma; serous_carcinoma |
c.1000G>A; p.E334K; 20:7814210-7814210 |
ovary | carcinoma; serous_carcinoma |
c.619G>A; p.A207T; |
lung | carcinoma; squamous_cell_carcinoma |
c.271G>A; p.E91K; |
lung | carcinoma; squamous_cell_carcinoma |
c.836T>C; p.V279A; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.575C>G; p.S192*; |
lung | carcinoma; adenocarcinoma |
c.1050G>T; p.Q350H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.752G>A; p.G251D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.752G>A; p.G251D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.921C>T; p.G307G; |
lung | carcinoma; adenocarcinoma |
c.686C>A; p.T229K; |
lung | carcinoma; squamous_cell_carcinoma |
c.402C>A; p.Y134*; |
lung | carcinoma; squamous_cell_carcinoma |
c.631A>G; p.K211E; |
lung | carcinoma; squamous_cell_carcinoma |
c.623A>T; p.Y208F; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.907G>T; p.A303S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.259C>T; p.H87Y; |
breast | carcinoma |
c.163C>T; p.R55W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.188C>T; p.S63L; |
breast | carcinoma |
c.92C>G; p.A31G; |
breast | carcinoma |
c.63G>A; p.K21K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.514C>T; p.R172C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1078G>A; p.V360M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.215G>T; p.S72I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.514C>T; p.R172C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.268G>A; p.G90S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1021C>A; p.R341R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.965C>T; p.A322V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.164G>A; p.R55Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.433C>T; p.R145W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.536C>T; p.P179L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.433C>T; p.R145W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.679A>C; p.R227R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.10C>T; p.R4W; 20:7869060-7869060 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.357G>A; p.A119A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.138-2A>T; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.952G>A; p.V318I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.177A>C; p.E59D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.802G>A; p.V268M; |
prostate | carcinoma; adenocarcinoma |
c.433C>T; p.R145W; |
prostate | carcinoma; adenocarcinoma |
c.951C>G; p.I317M; |
breast | carcinoma |
c.972G>C; p.Q324H; |
urinary_tract; bladder | carcinoma |
c.721G>A; p.G241S; |
prostate | carcinoma |
c.549G>A; p.M183I; |
skin; mucosal | malignant_melanoma |
c.940_941GG>AA; p.G314K; |
skin; face | carcinoma; squamous_cell_carcinoma |