| Gene ID | 7009 |
| Symbol | TMBIM6 |
| Synonymous | BAXI1|BI-1|TEGT |
| Full name | transmembrane BAX inhibitor motif containing 6 |
| Gene description | bax inhibitor 1|testis enhanced gene transcript|testis-enhanced gene transcript protein|transmembrane BAX inhibitor motif-containing protein 6 |
| Cytoband | 12q13.12 |
| Gene type | protein-coding |
| Synonymous | MIM:600748; HGNC:HGNC:11723; Ensembl:ENSG00000139644; HPRD:02851; Vega:OTTHUMG00000169652 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.241G>T; p.E81*; 12:49755710-49755710 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.514-1G>T; p.?; 12:49759220-49759220 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.226C>T; p.H76Y; 12:49755695-49755695 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.139G>A; p.V47I; 12:49753055-49753055 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.103G>T; p.A35S; 12:49753019-49753019 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.390C>G; p.L130L; 12:49758437-49758437 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.301C>T; p.P101S; 12:49758241-49758241 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.347C>T; p.T116I; 12:49758394-49758394 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.106delC; p.L36fs*30; 12:49753022-49753022 |
kidney | carcinoma; renal_cell_carcinoma | Deletion - Frameshift |
c.369G>A; p.M123I; 12:49758416-49758416 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11T>C; p.F4S; 12:49752504-49752504 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.713G>T; p.*238L; 12:49762895-49762895 |
oesophagus | carcinoma | Nonstop extension |
c.171C>T; p.G57G; 12:49755640-49755640 |
parathyroid | carcinoma | Substitution - coding silent |
c.190T>C; p.S64P; 12:49755659-49755659 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.629_631delTCT; p.F211delF; 12:49761718-49761720 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.554T>A; p.V185D; 12:49759261-49759261 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.675G>A; p.L225L; 12:49761764-49761764 |
prostate | carcinoma | Substitution - coding silent |
c.230G>A; p.S77N; 12:49755699-49755699 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Substitution - Missense |
c.300C>T; p.G100G; 12:49758240-49758240 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.330C>A; p.N110K; 12:49758270-49758270 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.55A>G; p.I19V; 12:49752548-49752548 |
pancreas | carcinoma | Substitution - Missense |
c.299G>A; p.G100D; 12:49758239-49758239 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.47T>G; p.F16C; 12:49752540-49752540 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.691G>A; p.D231N; 12:49762873-49762873 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.60C>T; p.T20T; 12:49752976-49752976 |
skin | malignant_melanoma | Substitution - coding silent |
c.505C>T; p.L169F; 12:49758754-49758754 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.552C>T; p.F184F; 12:49759259-49759259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |