| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 51643 |
Name | TMBIM4 |
Synonymous | transmembrane BAX inhibitor motif containing 4;TMBIM4;transmembrane BAX inhibitor motif containing 4 |
Definition | Golgi anti-apoptotic protein|Z-protein|protein lifeguard 4|transmembrane BAX inhibitor motif-containing protein 4 |
Position | 12q14.3 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.519_520delTT; p.F173fs*2; 12:66138157-66138158 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.519_520delTT; p.F173fs*2; 12:66138157-66138158 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.519_520delTT; p.F173fs*2; 12:66138157-66138158 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.139C>A; p.L47I; 12:66153407-66153407 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.291C>A; p.N97K; 12:66152292-66152292 |
prostate | carcinoma | Substitution - Missense |
c.328C>G; p.L110V; 12:66147926-66147926 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.233T>C; p.L78P; 12:66152350-66152350 |
prostate | carcinoma | Substitution - Missense |
c.570C>A; p.F190L; 12:66138107-66138107 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.607C>T; p.H203Y; 12:66138070-66138070 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.511T>C; p.F171L; 12:66138166-66138166 |
skin | malignant_melanoma | Substitution - Missense |
c.214T>G; p.L72V; 12:66152369-66152369 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.694C>T; p.L232L; 12:66137983-66137983 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.620C>A; p.P207H; 12:66138057-66138057 |
breast | carcinoma | Substitution - Missense |
c.226T>A; p.F76I; 12:66152357-66152357 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.668A>G; p.N223S; 12:66138009-66138009 |
skin; sole | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.4G>C; p.A2P; 12:66169948-66169948 |
breast | carcinoma | Substitution - Missense |
c.326C>G; p.A109G; 12:66147928-66147928 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.550G>A; p.A184T; 12:66138127-66138127 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.550G>A; p.A184T; 12:66138127-66138127 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.550G>A; p.A184T; 12:66138127-66138127 |
breast | carcinoma | Substitution - Missense |
c.648C>A; p.S216R; 12:66138029-66138029 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.714G>T; p.K238N; 12:66137963-66137963 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.124C>G; p.L42V; 12:66153422-66153422 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.124C>G; p.L42V; 12:66153422-66153422 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.520_521insT; p.Y174fs*2; 12:66138156-66138157 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.187C>T; p.R63W; 12:66153359-66153359 |
stomach | adenocarcinoma | Substitution - Missense |
c.510+4A>C; p.?; 12:66138720-66138720 |
pancreas | carcinoma | Unknown |
c.625G>A; p.E209K; 12:66138052-66138052 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.250A>T; p.I84F; 12:66152333-66152333 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.51C>T; p.F17F; 12:66169901-66169901 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.510G>T; p.K170N; 12:66138724-66138724 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.84G>A; p.V28V; 12:66169868-66169868 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.99C>T; p.A33A; 12:66153447-66153447 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.20G>C; p.R7P; 12:66169932-66169932 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.258G>A; p.A86A; 12:66152325-66152325 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.514T>A; p.F172I; 12:66138163-66138163 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520delT; p.Y174fs*4; 12:66138157-66138157 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.317T>C; p.L106P; 12:66147937-66147937 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.349_350insA; p.T117fs*4; 12:66145955-66145956 |
breast | carcinoma | Insertion - Frameshift |
c.235G>A; p.G79R; 12:66152348-66152348 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.455T>C; p.F152S; 12:66145850-66145850 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.643A>G; p.I215V; 12:66138034-66138034 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.19delC; p.R7fs*29; 12:66169933-66169933 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.277A>G; p.K93E; 12:66152306-66152306 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.234C>T; p.L78L; 12:66152349-66152349 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.70G>A; p.A24T; 12:66169882-66169882 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.70G>A; p.A24T; 12:66169882-66169882 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.70G>A; p.A24T; 12:66169882-66169882 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.599C>T; p.S200L; 12:66138078-66138078 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.599C>T; p.S200L; 12:66138078-66138078 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.216A>G; p.L72L; 12:66152367-66152367 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.604A>T; p.M202L; 12:66138073-66138073 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.489G>T; p.L163F; 12:66138745-66138745 |
thyroid | other; neoplasm | Substitution - Missense |
c.446T>C; p.F149S; 12:66145859-66145859 |
liver | carcinoma | Substitution - Missense |
c.446T>C; p.F149S; 12:66145859-66145859 |
liver | carcinoma | Substitution - Missense |
c.160A>G; p.T54A; 12:66153386-66153386 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.688C>T; p.R230W; 12:66137989-66137989 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |