| Gene ID | 2023 |
| Symbol | ENO1 |
| Synonymous | ENO1L1|MPB1|NNE|PPH |
| Full name | enolase 1, (alpha) |
| Gene description | 2-phospho-D-glycerate hydro-lyase|MYC promoter-binding protein 1|alpha enolase like 1|alpha-enolase|enolase-alpha|non-neural enolase|phosphopyruvate hydratase|plasminogen-binding protein|tau-crystallin |
| Cytoband | 1p36.2 |
| Gene type | protein-coding |
| Synonymous | MIM:172430; HGNC:HGNC:3350; Ensembl:ENSG00000074800; HPRD:01400; Vega:OTTHUMG00000001773 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.323C>T; p.A108V; 1:8867238-8867238 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1202C>T; p.S401F; 1:8862920-8862920 |
skin | malignant_melanoma | Substitution - Missense |
c.1192C>G; p.P398A; 1:8862930-8862930 |
skin | malignant_melanoma | Substitution - Missense |
c.622G>T; p.G208W; 1:8866324-8866324 |
thyroid | other; neoplasm | Substitution - Missense |
c.726C>T; p.I242I; 1:8865424-8865424 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.534C>T; p.F178F; 1:8866412-8866412 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.547C>T; p.R183C; 1:8866399-8866399 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.735C>T; p.D245D; 1:8865415-8865415 |
prostate | adenoma | Substitution - coding silent |
c.1192C>T; p.P398S; 1:8862930-8862930 |
skin | malignant_melanoma | Substitution - Missense |
c.1305A>G; p.*435*; 1:8861360-8861360 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.719T>C; p.V240A; 1:8865431-8865431 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.383T>C; p.V128A; 1:8867178-8867178 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1086_1096del11; p.N363fs*11; 1:8863315-8863325 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.972C>T; p.N324N; 1:8863986-8863986 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.402C>T; p.I134I; 1:8867159-8867159 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.155A>G; p.N52S; 1:8871917-8871917 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.285C>T; p.I95I; 1:8868013-8868013 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.285C>T; p.I95I; 1:8868013-8868013 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7A>G; p.I3V; 1:8874902-8874902 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.869T>G; p.V290G; 1:8864089-8864089 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.793G>T; p.D265Y; 1:8865357-8865357 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1007C>T; p.S336F; 1:8863951-8863951 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1273G>A; p.G425S; 1:8861392-8861392 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.241-9C>A; p.?; 1:8868066-8868066 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.548G>A; p.R183H; 1:8866398-8866398 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1177-2A>G; p.?; 1:8862947-8862947 |
prostate | carcinoma; adenocarcinoma | Unknown |
c.221C>T; p.A74V; 1:8870471-8870471 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.387C>A; p.P129P; 1:8867174-8867174 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.363T>A; p.A121A; 1:8867198-8867198 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.927C>T; p.A309A; 1:8864031-8864031 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.308A>C; p.K103T; 1:8867990-8867990 |
breast | carcinoma | Substitution - Missense |
c.1299C>A; p.A433A; 1:8861366-8861366 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.419A>G; p.N140S; 1:8867142-8867142 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.446C>T; p.A149V; 1:8866500-8866500 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.718G>A; p.V240M; 1:8865432-8865432 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.59T>G; p.V20G; 1:8874850-8874850 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.59T>G; p.V20G; 1:8874850-8874850 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.324G>A; p.A108A; 1:8867237-8867237 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1152G>A; p.L384L; 1:8863259-8863259 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.634G>A; p.G212R; 1:8866312-8866312 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.976A>C; p.K326Q; 1:8863982-8863982 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.392A>C; p.Y131S; 1:8867169-8867169 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.768G>T; p.K256N; 1:8865382-8865382 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.652C>A; p.L218M; 1:8866294-8866294 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.998A>G; p.N333S; 1:8863960-8863960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.337G>T; p.G113W; 1:8867224-8867224 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.250G>A; p.V84I; 1:8868048-8868048 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1018C>T; p.L340F; 1:8863940-8863940 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.249C>T; p.N83N; 1:8868049-8868049 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.249C>T; p.N83N; 1:8868049-8868049 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.687T>C; p.T229T; 1:8865463-8865463 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.479G>A; p.G160D; 1:8866467-8866467 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.315G>A; p.K105K; 1:8867246-8867246 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1197C>T; p.C399C; 1:8862925-8862925 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.854delA; p.K285fs*31; 1:8865296-8865296 |
skin | malignant_melanoma | Deletion - Frameshift |
c.761C>T; p.S254F; 1:8865389-8865389 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.621G>C; p.V207V; 1:8866325-8866325 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.72C>G; p.L24L; 1:8874837-8874837 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.86-1G>C; p.?; 1:8871987-8871987 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Unknown |
c.326A>G; p.N109S; 1:8867235-8867235 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.999C>T; p.N333N; 1:8863959-8863959 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.999C>T; p.N333N; 1:8863959-8863959 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.611C>T; p.A204V; 1:8866335-8866335 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.147C>T; p.L49L; 1:8871925-8871925 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1272C>A; p.A424A; 1:8861393-8861393 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1011C>T; p.C337C; 1:8863947-8863947 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.148C>T; p.R50W; 1:8871924-8871924 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.572A>G; p.N191S; 1:8866374-8866374 |
pancreas | carcinoma | Substitution - Missense |
c.24C>T; p.A8A; 1:8874885-8874885 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.573_574CC>TT; p.(=); 1:8866372-8866373 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1064A>G; p.Q355R; 1:8863894-8863894 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |