| Gene ID | 10988 |
| Symbol | METAP2 |
| Synonymous | MAP2|MNPEP|p67|p67eIF2 |
| Full name | methionyl aminopeptidase 2 |
| Gene description | MAP 2|eIF-2-associated p67 homolog|initiation factor 2-associated 67 kDa glycoprotein|metAP 2|methionine aminopeptidase 2|p67|p67eIF2|peptidase M 2 |
| Cytoband | 12q22 |
| Gene type | protein-coding |
| Synonymous | MIM:601870; HGNC:HGNC:16672; Ensembl:ENSG00000111142; HPRD:03522; Vega:OTTHUMG00000170280 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.236A>C; p.K79T; 12:95476155-95476155 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1189C>T; p.P397S; 12:95513656-95513656 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.990A>G; p.G330G; 12:95511920-95511920 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1264C>T; p.R422C; 12:95513731-95513731 |
skin | malignant_melanoma | Substitution - Missense |
c.434C>G; p.T145R; 12:95494061-95494061 |
skin | malignant_melanoma | Substitution - Missense |
c.223G>A; p.A75T; 12:95476142-95476142 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1163A>T; p.D388V; 12:95512895-95512895 |
prostate | carcinoma | Substitution - Missense |
c.189A>G; p.S63S; 12:95476108-95476108 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1150A>G; p.M384V; 12:95512882-95512882 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.508C>T; p.R170*; 12:95494135-95494135 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.22G>A; p.A8T; 12:95474201-95474201 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.22G>A; p.A8T; 12:95474201-95474201 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.22G>A; p.A8T; 12:95474201-95474201 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.22G>A; p.A8T; 12:95474201-95474201 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.22G>A; p.A8T; 12:95474201-95474201 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.22G>A; p.A8T; 12:95474201-95474201 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.22G>A; p.A8T; 12:95474201-95474201 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.730T>C; p.Y244H; 12:95495096-95495096 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.767T>C; p.I256T; 12:95495133-95495133 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.821A>G; p.D274G; 12:95496052-95496052 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.901G>A; p.G301S; 12:95504098-95504098 |
skin | malignant_melanoma | Substitution - Missense |
c.400G>T; p.E134*; 12:95485953-95485953 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1250G>A; p.R417H; 12:95513717-95513717 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.121_123delAAG; p.K44delK; 12:95474300-95474302 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Deletion - In frame |
c.193G>A; p.D65N; 12:95476112-95476112 |
skin | malignant_melanoma | Substitution - Missense |
c.1290G>T; p.M430I; 12:95513757-95513757 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.562A>G; p.K188E; 12:95494189-95494189 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.123G>A; p.K41K; 12:95474302-95474302 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.592G>T; p.E198*; 12:95494958-95494958 |
breast | carcinoma | Substitution - Nonsense |
c.1423G>C; p.G475R; 12:95513890-95513890 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.868-9delT; p.?; 12:95504056-95504056 |
stomach | adenocarcinoma | Unknown |
c.430C>T; p.R144*; 12:95494057-95494057 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1159T>G; p.F387V; 12:95512891-95512891 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.995C>A; p.S332*; 12:95511925-95511925 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.757G>T; p.G253*; 12:95495123-95495123 |
breast | carcinoma | Substitution - Nonsense |
c.1238T>C; p.L413P; 12:95513705-95513705 |
bone; femur | chondrosarcoma | Substitution - Missense |
c.1238T>C; p.L413P; 12:95513705-95513705 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.967A>T; p.K323*; 12:95511897-95511897 |
breast | carcinoma | Substitution - Nonsense |
c.615C>T; p.R205R; 12:95494981-95494981 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.758G>T; p.G253V; 12:95495124-95495124 |
breast | carcinoma | Substitution - Missense |
c.809A>T; p.N270I; 12:95496040-95496040 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.456T>C; p.S152S; 12:95494083-95494083 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.367C>A; p.L123M; 12:95485920-95485920 |
skin | malignant_melanoma | Substitution - Missense |
c.463A>C; p.K155Q; 12:95494090-95494090 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.9T>G; p.G3G; 12:95474188-95474188 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.9T>G; p.G3G; 12:95474188-95474188 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.9T>G; p.G3G; 12:95474188-95474188 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.20T>A; p.V7E; 12:95474199-95474199 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.908C>T; p.A303V; 12:95504105-95504105 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.328A>G; p.K110E; 12:95485881-95485881 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.343C>T; p.P115S; 12:95485896-95485896 |
skin | malignant_melanoma | Substitution - Missense |
c.1095C>A; p.T365T; 12:95512827-95512827 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.94G>C; p.E32Q; 12:95474273-95474273 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.406G>A; p.E136K; 12:95485959-95485959 |
liver | carcinoma | Substitution - Missense |
c.94G>C; p.E32Q; 12:95474273-95474273 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.473T>C; p.L158S; 12:95494100-95494100 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1124A>G; p.H375R; 12:95512856-95512856 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.384A>G; p.V128V; 12:95485937-95485937 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1195A>G; p.T399A; 12:95513662-95513662 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1368G>A; p.A456A; 12:95513835-95513835 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.910A>G; p.I304V; 12:95504107-95504107 |
liver | carcinoma | Substitution - Missense |
c.1368G>A; p.A456A; 12:95513835-95513835 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.910A>G; p.I304V; 12:95504107-95504107 |
liver | carcinoma | Substitution - Missense |
c.591-2A>T; p.?; 12:95494955-95494955 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |