| Gene ID | 7132 |
| Symbol | TNFRSF1A |
| Synonymous | CD120a|FPF|MS5|TBP1|TNF-R|TNF-R-I|TNF-R55|TNFAR|TNFR1|TNFR1-d2|TNFR55|TNFR60|p55|p55-R|p60 |
| Full name | tumor necrosis factor receptor superfamily, member 1A |
| Gene description | TNF-R1|TNF-RI|TNFR-I|tumor necrosis factor binding protein 1|tumor necrosis factor receptor 1A isoform beta|tumor necrosis factor receptor superfamily member 1A|tumor necrosis factor receptor type 1|tumor necrosis factor-alpha receptor |
| Cytoband | 12p13.2 |
| Gene type | protein-coding |
| Synonymous | MIM:191190; HGNC:HGNC:11916; Ensembl:ENSG00000067182; HPRD:01861; Vega:OTTHUMG00000168267 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.317G>T; p.R106L; 12:6333742-6333742 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.531C>T; p.N177N; 12:6333089-6333089 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.625+5G>A; p.?; 12:6330848-6330848 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.154C>T; p.P52S; 12:6334130-6334130 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1109G>A; p.R370H; 12:6329571-6329571 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.985C>T; p.L329F; 12:6329850-6329850 |
liver | carcinoma | Substitution - Missense |
c.623C>T; p.S208L; 12:6330855-6330855 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.812C>T; p.P271L; 12:6330023-6330023 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.47T>C; p.L16P; 12:6334237-6334237 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.677C>T; p.S226F; 12:6330660-6330660 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1368A>T; p.*456C; 12:6329312-6329312 |
ovary | carcinoma; serous_carcinoma | Nonstop extension |
c.1026G>T; p.E342D; 12:6329809-6329809 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.362G>A; p.R121Q; 12:6333477-6333477 |
breast | carcinoma | Substitution - Missense |
c.550_551+2delAAGT; p.?; 12:6333067-6333070 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1155C>T; p.I385I; 12:6329525-6329525 |
skin | malignant_melanoma | Substitution - coding silent |
c.681C>A; p.L227L; 12:6330656-6330656 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.213C>T; p.D71D; 12:6333846-6333846 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.68A>G; p.Y23C; 12:6334216-6334216 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.168G>A; p.S56S; 12:6334116-6334116 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.380G>T; p.C127F; 12:6333459-6333459 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.734C>T; p.S245F; 12:6330603-6330603 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.961G>A; p.A321T; 12:6329874-6329874 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.753G>A; p.S251S; 12:6330282-6330282 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.526G>T; p.E176*; 12:6333094-6333094 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.106G>T; p.D36Y; 12:6334178-6334178 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.888C>T; p.S296S; 12:6329947-6329947 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.672T>C; p.L224L; 12:6330665-6330665 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.65T>C; p.I22T; 12:6334219-6334219 |
liver | carcinoma | Substitution - Missense |
c.1334C>T; p.A445V; 12:6329346-6329346 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1275C>T; p.L425L; 12:6329405-6329405 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.1275C>T; p.L425L; 12:6329405-6329405 |
skin | malignant_melanoma | Substitution - coding silent |
c.1070C>T; p.A357V; 12:6329610-6329610 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1103C>T; p.P368L; 12:6329577-6329577 |
skin | malignant_melanoma | Substitution - Missense |
c.432C>G; p.F144L; 12:6333407-6333407 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.46C>T; p.L16L; 12:6334238-6334238 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.237G>A; p.T79T; 12:6333822-6333822 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1326C>T; p.C442C; 12:6329354-6329354 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.368C>A; p.T123N; 12:6333471-6333471 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.998C>T; p.P333L; 12:6329837-6329837 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.740-3C>G; p.?; 12:6330298-6330298 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1319C>T; p.A440V; 12:6329361-6329361 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.704G>T; p.R235L; 12:6330633-6330633 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1150G>A; p.E384K; 12:6329530-6329530 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.79delG; p.V27fs*8; 12:6334205-6334205 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.955C>T; p.Q319*; 12:6329880-6329880 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.955C>T; p.Q319*; 12:6329880-6329880 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.829C>G; p.P277A; 12:6330006-6330006 |
breast | carcinoma | Substitution - Missense |
c.841C>A; p.P281T; 12:6329994-6329994 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.529A>G; p.N177D; 12:6333091-6333091 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1278C>T; p.R426R; 12:6329402-6329402 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.740-9T>G; p.?; 12:6330304-6330304 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1348G>A; p.A450T; 12:6329332-6329332 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.435T>G; p.N145K; 12:6333404-6333404 |
thyroid | other; neoplasm | Substitution - Missense |
c.74C>G; p.S25*; 12:6334210-6334210 |
breast | carcinoma | Substitution - Nonsense |
c.236C>T; p.T79M; 12:6333823-6333823 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.999C>T; p.P333P; 12:6329836-6329836 |
skin | malignant_melanoma | Substitution - coding silent |
c.167C>T; p.S56L; 12:6334117-6334117 |
skin | malignant_melanoma | Substitution - Missense |
c.491C>T; p.T164I; 12:6333129-6333129 |
skin | malignant_melanoma | Substitution - Missense |
c.167C>T; p.S56L; 12:6334117-6334117 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.167C>T; p.S56L; 12:6334117-6334117 |
breast | carcinoma | Substitution - Missense |
c.167C>T; p.S56L; 12:6334117-6334117 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.576G>A; p.T192T; 12:6330902-6330902 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.740-9T>C; p.?; 12:6330304-6330304 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.300C>T; p.L100L; 12:6333759-6333759 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.209A>G; p.N70S; 12:6333850-6333850 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.760G>A; p.E254K; 12:6330275-6330275 |
skin | malignant_melanoma | Substitution - Missense |
c.567G>T; p.L189L; 12:6330911-6330911 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.842_843insT; p.T282fs*22; 12:6329992-6329993 |
autonomic_ganglia | neuroblastoma | Insertion - Frameshift |
c.1236G>A; p.P412P; 12:6329444-6329444 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1327G>A; p.G443S; 12:6329353-6329353 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.600G>A; p.E200E; 12:6330878-6330878 |
skin | malignant_melanoma | Substitution - coding silent |
c.157C>T; p.Q53*; 12:6334127-6334127 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.212A>G; p.D71G; 12:6333847-6333847 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.625+3G>T; p.?; 12:6330850-6330850 |
pancreas | carcinoma | Unknown |
c.74C>T; p.S25L; 12:6334210-6334210 |
breast | carcinoma | Substitution - Missense |
c.36A>G; p.P12P; 12:6341779-6341779 |
breast | carcinoma | Substitution - coding silent |
c.36A>G; p.P12P; 12:6341779-6341779 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.147T>C; p.Y49Y; 12:6334137-6334137 |
bone; femur | chondrosarcoma | Substitution - coding silent |
c.147T>C; p.Y49Y; 12:6334137-6334137 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1038C>A; p.H346Q; 12:6329797-6329797 |
thyroid | other; neoplasm | Substitution - Missense |
c.935G>A; p.R312K; 12:6329900-6329900 |
thyroid | other; neoplasm | Substitution - Missense |
c.935G>A; p.R312K; 12:6329900-6329900 |
thyroid | other; neoplasm | Substitution - Missense |
c.217C>T; p.P73S; 12:6333842-6333842 |
skin | malignant_melanoma | Substitution - Missense |
c.1239G>A; p.R413R; 12:6329441-6329441 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.344C>T; p.S115F; 12:6333495-6333495 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.985C>A; p.L329I; 12:6329850-6329850 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.619G>A; p.D207N; 12:6330859-6330859 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.457A>G; p.T153A; 12:6333382-6333382 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |