| Gene ID | 259 |
| Symbol | AMBP |
| Synonymous | A1M|EDC1|HCP|HI30|IATIL|ITI|ITIL|ITILC|UTI |
| Full name | alpha-1-microglobulin/bikunin precursor |
| Gene description | bikunin|complex-forming glycoprotein heterogeneous in charge|growth-inhibiting protein 19|inter-alpha-trypsin inhibitor light chain|protein AMBP|protein HC|trypstatin|uristatin|uronic-acid-rich protein |
| Cytoband | 9q32-q33 |
| Gene type | protein-coding |
| Synonymous | MIM:176870; HGNC:HGNC:453; Ensembl:ENSG00000106927; HPRD:01467; Vega:OTTHUMG00000020534 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.438T>G; p.I146M; 9:114074052-114074052 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.75G>A; p.P25P; 9:114078135-114078135 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.75G>A; p.P25P; 9:114078135-114078135 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.75G>A; p.P25P; 9:114078135-114078135 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.171G>T; p.K57N; 9:114076687-114076687 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.465G>A; p.P155P; 9:114073016-114073016 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1012G>A; p.G338S; 9:114060940-114060940 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.524C>T; p.P175L; 9:114072957-114072957 |
skin | malignant_melanoma | Substitution - Missense |
c.324C>T; p.L108L; 9:114074973-114074973 |
skin | malignant_melanoma | Substitution - coding silent |
c.969C>T; p.N323N; 9:114060983-114060983 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.561A>G; p.E187E; 9:114069741-114069741 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.879G>A; p.R293R; 9:114061073-114061073 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.76C>G; p.P26A; 9:114078134-114078134 |
breast | carcinoma | Substitution - Missense |
c.781T>C; p.Y261H; 9:114061496-114061496 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.403A>T; p.T135S; 9:114074087-114074087 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.782A>G; p.Y261C; 9:114061495-114061495 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.263A>C; p.K88T; 9:114075034-114075034 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.994G>A; p.E332K; 9:114060958-114060958 |
skin | malignant_melanoma | Substitution - Missense |
c.408G>A; p.K136K; 9:114074082-114074082 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.758C>T; p.S253F; 9:114061519-114061519 |
skin | malignant_melanoma | Substitution - Missense |
c.771G>A; p.E257E; 9:114061506-114061506 |
breast | carcinoma | Substitution - coding silent |
c.120C>A; p.I40I; 9:114076738-114076738 |
endometrium | carcinoma; serous_carcinoma | Substitution - coding silent |
c.49delG; p.V17fs*1; 9:114078161-114078161 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.786C>T; p.G262G; 9:114061491-114061491 |
breast | carcinoma | Substitution - coding silent |
c.341G>T; p.W114L; 9:114074149-114074149 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.928G>A; p.G310R; 9:114061024-114061024 |
skin | malignant_melanoma | Substitution - Missense |
c.993G>T; p.K331N; 9:114060959-114060959 |
skin | malignant_melanoma | Substitution - Missense |
c.993G>T; p.K331N; 9:114060959-114060959 |
skin | malignant_melanoma | Substitution - Missense |
c.25T>C; p.L9L; 9:114078185-114078185 |
skin | malignant_melanoma | Substitution - coding silent |
c.88C>T; p.Q30*; 9:114078122-114078122 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.131G>T; p.W44L; 9:114076727-114076727 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.116G>C; p.R39P; 9:114078094-114078094 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.588G>A; p.E196E; 9:114069714-114069714 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.650G>A; p.G217D; 9:114062712-114062712 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.952G>A; p.G318R; 9:114061000-114061000 |
skin | malignant_melanoma | Substitution - Missense |
c.215A>G; p.E72G; 9:114076643-114076643 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1050C>A; p.F350L; 9:114060248-114060248 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.942C>A; p.L314L; 9:114061010-114061010 |
pancreas | carcinoma | Substitution - coding silent |
c.834G>A; p.L278L; 9:114061443-114061443 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1045C>T; p.R349C; 9:114060253-114060253 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.631G>T; p.E211*; 9:114062731-114062731 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3G>C; p.M1I; 9:114078207-114078207 |
breast | carcinoma | Substitution - Missense |
c.36C>T; p.S12S; 9:114078174-114078174 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.36C>T; p.S12S; 9:114078174-114078174 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.102C>T; p.N34N; 9:114078108-114078108 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.78C>T; p.P26P; 9:114078132-114078132 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.130T>G; p.W44G; 9:114076728-114076728 |
thyroid | carcinoma | Substitution - Missense |
c.477A>C; p.E159D; 9:114073004-114073004 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.346A>G; p.I116V; 9:114074144-114074144 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1022G>C; p.G341A; 9:114060930-114060930 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.336C>A; p.S112S; 9:114074961-114074961 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.528G>A; p.E176E; 9:114072953-114072953 |
skin | malignant_melanoma | Substitution - coding silent |
c.590C>T; p.P197L; 9:114069712-114069712 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.954G>A; p.G318G; 9:114060998-114060998 |
skin; upper_leg | malignant_melanoma | Substitution - coding silent |
c.72G>A; p.T24T; 9:114078138-114078138 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.72G>A; p.T24T; 9:114078138-114078138 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.418C>T; p.R140C; 9:114074072-114074072 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.231G>A; p.A77A; 9:114076627-114076627 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.685G>A; p.D229N; 9:114062677-114062677 |
skin | malignant_melanoma | Substitution - Missense |
c.333A>T; p.K111N; 9:114074964-114074964 |
skin | malignant_melanoma | Substitution - Missense |
c.603G>A; p.P201P; 9:114069699-114069699 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.16G>A; p.A6T; 9:114078194-114078194 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.16G>A; p.A6T; 9:114078194-114078194 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.16G>A; p.A6T; 9:114078194-114078194 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.408G>T; p.K136N; 9:114074082-114074082 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.205G>A; p.V69M; 9:114076653-114076653 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.71C>T; p.T24M; 9:114078139-114078139 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.952G>T; p.G318W; 9:114061000-114061000 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.451T>C; p.Y151H; 9:114074039-114074039 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.31C>T; p.L11L; 9:114078179-114078179 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.717C>A; p.P239P; 9:114061560-114061560 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.717C>A; p.P239P; 9:114061560-114061560 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.809A>G; p.N270S; 9:114061468-114061468 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |