| Gene ID | 468 |
| Symbol | ATF4 |
| Synonymous | CREB-2|CREB2|TAXREB67|TXREB |
| Full name | activating transcription factor 4 |
| Gene description | DNA-binding protein TAXREB67|cAMP response element-binding protein 2|cAMP-dependent transcription factor ATF-4|cAMP-responsive element-binding protein 2|cyclic AMP-dependent transcription factor ATF-4|cyclic AMP-responsive element-binding protein 2|tax-re |
| Cytoband | 22q13.1 |
| Gene type | protein-coding |
| Synonymous | MIM:604064; HGNC:HGNC:786; Ensembl:ENSG00000128272; HPRD:06817; Vega:OTTHUMG00000151099 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.441T>C; p.S147S; 22:39521987-39521987 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.781_782insA; p.Y261fs*1; 22:39522327-39522328 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Insertion - Frameshift |
c.674C>T; p.P225L; 22:39522220-39522220 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.40G>T; p.G14W; 22:39521485-39521485 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.912G>T; p.E304D; 22:39522458-39522458 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.641C>T; p.P214L; 22:39522187-39522187 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.644C>T; p.S215L; 22:39522190-39522190 |
skin | malignant_melanoma | Substitution - Missense |
c.614C>T; p.P205L; 22:39522160-39522160 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.614C>T; p.P205L; 22:39522160-39522160 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.386A>G; p.E129G; 22:39521932-39521932 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.65A>C; p.Q22P; 22:39521510-39521510 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.65A>C; p.Q22P; 22:39521510-39521510 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.423T>G; p.I141M; 22:39521969-39521969 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.93A>G; p.L31L; 22:39521538-39521538 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.386A>C; p.E129A; 22:39521932-39521932 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.773C>T; p.P258L; 22:39522319-39522319 |
skin | malignant_melanoma | Substitution - Missense |
c.528_531delTTCC; p.S177fs*3; 22:39522074-39522077 |
breast | carcinoma | Deletion - Frameshift |
c.467C>T; p.P156L; 22:39522013-39522013 |
skin | malignant_melanoma | Substitution - Missense |
c.302G>A; p.G101D; 22:39521848-39521848 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.617A>G; p.Q206R; 22:39522163-39522163 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.531C>G; p.S177S; 22:39522077-39522077 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.693T>A; p.S231S; 22:39522239-39522239 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.466C>T; p.P156S; 22:39522012-39522012 |
skin | malignant_melanoma | Substitution - Missense |
c.125A>G; p.K42R; 22:39521570-39521570 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.31G>C; p.V11L; 22:39521476-39521476 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.779C>T; p.P260L; 22:39522325-39522325 |
skin | malignant_melanoma | Substitution - Missense |
c.286T>C; p.L96L; 22:39521832-39521832 |
breast | carcinoma | Substitution - coding silent |
c.454G>C; p.D152H; 22:39522000-39522000 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.226+1G>A; p.?; 22:39521672-39521672 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Unknown |
c.168G>A; p.A56A; 22:39521613-39521613 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.680C>T; p.S227F; 22:39522226-39522226 |
skin | malignant_melanoma | Substitution - Missense |
c.150C>T; p.S50S; 22:39521595-39521595 |
skin | malignant_melanoma | Substitution - coding silent |
c.262A>G; p.K88E; 22:39521808-39521808 |
pancreas | carcinoma | Substitution - Missense |
c.697C>G; p.Q233E; 22:39522243-39522243 |
breast | carcinoma | Substitution - Missense |
c.211T>G; p.S71A; 22:39521656-39521656 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.381C>G; p.V127V; 22:39521927-39521927 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1002G>A; p.L334L; 22:39522548-39522548 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.308A>G; p.D103G; 22:39521854-39521854 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.60C>G; p.F20L; 22:39521505-39521505 |
breast | carcinoma | Substitution - Missense |
c.508C>A; p.L170M; 22:39522054-39522054 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.731G>T; p.R244M; 22:39522277-39522277 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.367delT; p.F123fs*4; 22:39521913-39521913 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.174C>T; p.S58S; 22:39521619-39521619 |
pancreas | carcinoma | Substitution - coding silent |
c.631G>T; p.E211*; 22:39522177-39522177 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.557T>G; p.V186G; 22:39522103-39522103 |
thyroid | other; neoplasm | Substitution - Missense |
c.429T>A; p.H143Q; 22:39521975-39521975 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.513C>A; p.S171S; 22:39522059-39522059 |
skin | malignant_melanoma | Substitution - coding silent |
c.305T>C; p.I102T; 22:39521851-39521851 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.847delA; p.M285fs*36; 22:39522393-39522393 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.847delA; p.M285fs*36; 22:39522393-39522393 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.56C>T; p.P19L; 22:39521501-39521501 |
skin | malignant_melanoma | Substitution - Missense |
c.400delC; p.Q136fs*3; 22:39521946-39521946 |
skin | malignant_melanoma | Deletion - Frameshift |
c.400delC; p.Q136fs*3; 22:39521946-39521946 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.400delC; p.Q136fs*3; 22:39521946-39521946 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.1A>G; p.M1V; 22:39521446-39521446 |
liver | carcinoma | Substitution - Missense |
c.83A>T; p.E28V; 22:39521528-39521528 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.83A>T; p.E28V; 22:39521528-39521528 |
liver | carcinoma | Substitution - Missense |
c.413T>G; p.V138G; 22:39521959-39521959 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.780T>G; p.P260P; 22:39522326-39522326 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.53C>T; p.S18F; 22:39521498-39521498 |
skin | malignant_melanoma | Substitution - Missense |