| Gene ID | 3692 |
| Symbol | EIF6 |
| Synonymous | CAB|EIF3A|ITGB4BP|b(2)gcn|eIF-6|p27(BBP)|p27BBP |
| Full name | eukaryotic translation initiation factor 6 |
| Gene description | B4 integrin interactor|eIF-6|eukaryotic translation initiation factor 3A|p27 beta-4 integrin-binding protein |
| Cytoband | 20q12 |
| Gene type | protein-coding |
| Synonymous | MIM:602912; HGNC:HGNC:6159; Ensembl:ENSG00000242372; HPRD:04221; Vega:OTTHUMG00000032328 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.306A>G; p.S102S; 20:35280717-35280717 |
breast | carcinoma | Substitution - coding silent |
c.391G>C; p.D131H; 20:35280097-35280097 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.379G>A; p.E127K; 20:35280109-35280109 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.11G>C; p.R4P; 20:35284477-35284477 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.110T>C; p.V37A; 20:35284259-35284259 |
skin | malignant_melanoma | Substitution - Missense |
c.460_461delTT; p.F154fs*14; 20:35280027-35280028 |
pancreas | NS | Deletion - Frameshift |
c.368G>T; p.R123M; 20:35280655-35280655 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.65C>T; p.T22I; 20:35284423-35284423 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.554C>T; p.T185I; 20:35279740-35279740 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.539C>T; p.P180L; 20:35279949-35279949 |
skin; trunk | malignant_melanoma; nodular | Substitution - Missense |
c.226A>G; p.T76A; 20:35280797-35280797 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.286C>T; p.R96W; 20:35280737-35280737 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.376G>A; p.E126K; 20:35280112-35280112 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.546G>A; p.V182V; 20:35279942-35279942 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.246A>G; p.Q82Q; 20:35280777-35280777 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.433C>T; p.Q145*; 20:35280055-35280055 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.709C>T; p.R237W; 20:35279585-35279585 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.17C>T; p.S6L; 20:35284471-35284471 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.370-3C>T; p.?; 20:35280121-35280121 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.124C>G; p.L42V; 20:35284245-35284245 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.126C>T; p.L42L; 20:35284243-35284243 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.339C>T; p.Y113Y; 20:35280684-35280684 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - coding silent |
c.4delG; p.A2fs*25; 20:35284484-35284484 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.114C>T; p.F38F; 20:35284255-35284255 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.322A>G; p.T108A; 20:35280701-35280701 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.370G>A; p.E124K; 20:35280118-35280118 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.540C>T; p.P180P; 20:35279948-35279948 |
skin | malignant_melanoma | Substitution - coding silent |
c.736T>C; p.*246R; 20:35279199-35279199 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Nonstop extension |
c.427G>T; p.A143S; 20:35280061-35280061 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.205G>A; p.G69S; 20:35280818-35280818 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.200G>T; p.R67M; 20:35280823-35280823 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.379G>C; p.E127Q; 20:35280109-35280109 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.254G>A; p.R85H; 20:35280769-35280769 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.254G>A; p.R85H; 20:35280769-35280769 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.437T>G; p.V146G; 20:35280051-35280051 |
breast | carcinoma | Substitution - Missense |