| Gene ID | 2222 |
| Symbol | FDFT1 |
| Synonymous | DGPT|ERG9|SQS|SS |
| Full name | farnesyl-diphosphate farnesyltransferase 1 |
| Gene description | FPP:FPP farnesyltransferase|presqualene-di-diphosphate synthase|squalene synthase|squalene synthetase |
| Cytoband | 8p23.1-p22 |
| Gene type | protein-coding |
| Synonymous | MIM:184420; HGNC:HGNC:3629; Ensembl:ENSG00000079459; HPRD:01694; Vega:OTTHUMG00000090801 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.381+1G>A; p.?; 8:11809851-11809851 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1136G>A; p.R379Q; 8:11838491-11838491 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.994C>A; p.P332T; 8:11831632-11831632 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.282delC; p.P95fs*48; 8:11809751-11809751 |
skin; scalp | malignant_melanoma | Deletion - Frameshift |
c.11T>C; p.V4A; 8:11802843-11802843 |
breast | carcinoma | Substitution - Missense |
c.708G>T; p.W236C; 8:11830249-11830249 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.949C>T; p.R317W; 8:11831587-11831587 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.430G>A; p.A144T; 8:11821798-11821798 |
pancreas | carcinoma | Substitution - Missense |
c.430G>A; p.A144T; 8:11821798-11821798 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1035T>G; p.I345M; 8:11838390-11838390 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1035T>G; p.I345M; 8:11838390-11838390 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.735delT; p.F246fs*14; 8:11830276-11830276 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.746C>G; p.P249R; 8:11830287-11830287 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.337G>A; p.E113K; 8:11809806-11809806 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.203C>T; p.A68V; 8:11809672-11809672 |
breast | carcinoma | Substitution - Missense |
c.134A>G; p.K45R; 8:11808828-11808828 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.278A>G; p.K93R; 8:11809747-11809747 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.227T>C; p.L76P; 8:11809696-11809696 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1067C>G; p.S356C; 8:11838422-11838422 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.270G>A; p.V90V; 8:11809739-11809739 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.433G>A; p.D145N; 8:11821801-11821801 |
breast | carcinoma | Substitution - Missense |
c.174C>G; p.I58M; 8:11808868-11808868 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.386C>A; p.S129Y; 8:11821754-11821754 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.386C>A; p.S129Y; 8:11821754-11821754 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1253G>A; p.*418*; 8:11838608-11838608 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.554G>A; p.R185H; 8:11826067-11826067 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.145C>G; p.Q49E; 8:11808839-11808839 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.145C>G; p.Q49E; 8:11808839-11808839 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.792C>G; p.T264T; 8:11830333-11830333 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.426G>C; p.V142V; 8:11821794-11821794 |
breast | carcinoma | Substitution - coding silent |
c.1163C>T; p.S388L; 8:11838518-11838518 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.348G>A; p.E116E; 8:11809817-11809817 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.156C>T; p.R52R; 8:11808850-11808850 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.577G>A; p.E193K; 8:11826090-11826090 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.577G>A; p.E193K; 8:11826090-11826090 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.521A>G; p.Y174C; 8:11826034-11826034 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.85C>G; p.P29A; 8:11802917-11802917 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.934G>T; p.G312W; 8:11831572-11831572 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1103C>T; p.T368M; 8:11838458-11838458 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.669C>T; p.D223D; 8:11826182-11826182 |
skin | malignant_melanoma | Substitution - coding silent |
c.1055C>T; p.S352L; 8:11838410-11838410 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.840C>G; p.L280L; 8:11830381-11830381 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.975G>A; p.M325I; 8:11831613-11831613 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.129C>T; p.C43C; 8:11808823-11808823 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1251C>G; p.H417Q; 8:11838606-11838606 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.283C>T; p.P95S; 8:11809752-11809752 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.690C>A; p.F230L; 8:11826203-11826203 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.446G>T; p.R149I; 8:11821814-11821814 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1076C>T; p.T359I; 8:11838431-11838431 |
liver | carcinoma | Substitution - Missense |
c.328C>T; p.R110W; 8:11809797-11809797 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.972G>C; p.L324L; 8:11831610-11831610 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1210C>G; p.L404V; 8:11838565-11838565 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.644A>G; p.N215S; 8:11826157-11826157 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.614A>G; p.N205S; 8:11826127-11826127 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.201C>T; p.N67N; 8:11809670-11809670 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.201C>T; p.N67N; 8:11809670-11809670 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.201C>T; p.N67N; 8:11809670-11809670 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.534G>A; p.L178L; 8:11826047-11826047 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |