| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 9445 |
Name | ITM2B |
Synonymous | integral membrane protein 2B;ITM2B;integral membrane protein 2B |
Definition | ABri/ADan amyloid peptide|BRICHOS domain containing 2B|immature BRI2|transmembrane protein BRI |
Position | 13q14.3 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.331C>T; p.L111F; 13:48256261-48256261 |
skin | malignant_melanoma | Substitution - Missense |
c.754C>T; p.R252W; 13:48261177-48261177 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.754C>T; p.R252W; 13:48261177-48261177 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.758A>G; p.H253R; 13:48261181-48261181 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.411T>C; p.F137F; 13:48256341-48256341 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.605A>G; p.H202R; 13:48258837-48258837 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.254A>G; p.D85G; 13:48256184-48256184 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.467A>G; p.Y156C; 13:48258139-48258139 |
pancreas | carcinoma | Substitution - Missense |
c.449A>T; p.N150I; 13:48256379-48256379 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.553A>G; p.I185V; 13:48258225-48258225 |
liver | carcinoma | Substitution - Missense |
c.457C>A; p.L153I; 13:48258129-48258129 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.247-6C>T; p.?; 13:48256171-48256171 |
lung | carcinoma; adenocarcinoma | Unknown |
c.473A>T; p.D158V; 13:48258145-48258145 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.87delC; p.D32fs*30; 13:48233447-48233447 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.373G>A; p.E125K; 13:48256303-48256303 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.373G>A; p.E125K; 13:48256303-48256303 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.382G>A; p.E128K; 13:48256312-48256312 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.516C>T; p.S172S; 13:48258188-48258188 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.583C>G; p.Q195E; 13:48258815-48258815 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.727C>T; p.R243C; 13:48261150-48261150 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.687C>A; p.Y229*; 13:48258919-48258919 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - Nonsense |
c.583C>T; p.Q195*; 13:48258815-48258815 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.341C>T; p.T114I; 13:48256271-48256271 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.716-1G>A; p.?; 13:48261138-48261138 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.664C>T; p.L222L; 13:48258896-48258896 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.349G>T; p.E117*; 13:48256279-48256279 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.386T>G; p.F129C; 13:48256316-48256316 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.748G>A; p.A250T; 13:48261171-48261171 |
stomach | adenocarcinoma | Substitution - Missense |
c.640C>T; p.H214Y; 13:48258872-48258872 |
skin | malignant_melanoma | Substitution - Missense |
c.640C>T; p.H214Y; 13:48258872-48258872 |
skin | malignant_melanoma | Substitution - Missense |
c.344T>G; p.I115S; 13:48256274-48256274 |
skin | malignant_melanoma | Substitution - Missense |
c.703G>T; p.E235*; 13:48258935-48258935 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.363C>A; p.I121I; 13:48256293-48256293 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.696A>G; p.Q232Q; 13:48258928-48258928 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.199G>T; p.G67C; 13:48253889-48253889 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.623G>A; p.R208H; 13:48258855-48258855 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.618_635del18; p.R208_D213delRIENID; 13:48258850-48258867 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.463G>A; p.A155T; 13:48258135-48258135 |
liver | carcinoma | Substitution - Missense |
c.463G>A; p.A155T; 13:48258135-48258135 |
liver | carcinoma | Substitution - Missense |
c.255C>G; p.D85E; 13:48256185-48256185 |
ovary | other; neoplasm | Substitution - Missense |
c.791T>G; p.I264S; 13:48261214-48261214 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.566C>T; p.A189V; 13:48258798-48258798 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.509A>T; p.N170I; 13:48258181-48258181 |
kidney | other; neoplasm | Substitution - Missense |
c.747C>T; p.F249F; 13:48261170-48261170 |
liver | carcinoma | Substitution - coding silent |
c.747C>T; p.F249F; 13:48261170-48261170 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.747C>T; p.F249F; 13:48261170-48261170 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.679G>A; p.E227K; 13:48258911-48258911 |
breast | carcinoma | Substitution - Missense |