| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 27069 |
Name | GHITM |
Synonymous | growth hormone inducible transmembrane protein;GHITM;growth hormone inducible transmembrane protein |
Definition | dermal papilla-derived protein 2|growth hormone-inducible transmembrane protein|mitochondrial morphology and cristae structure 1|transmembrane BAX inhibitor motif containing 5|transmembrane BAX inhibitor motif-containing protein 5 |
Position | 10q23.1 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.60T>G; p.A20A; 10:84141560-84141560 |
breast | carcinoma | Substitution - coding silent |
c.389A>T; p.Y130F; 10:84144922-84144922 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.289T>C; p.C97R; 10:84144054-84144054 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.707C>T; p.A236V; 10:84150169-84150169 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.707C>T; p.A236V; 10:84150169-84150169 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.707C>T; p.A236V; 10:84150169-84150169 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.595G>T; p.V199L; 10:84150057-84150057 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.680G>A; p.G227E; 10:84150142-84150142 |
oesophagus | carcinoma | Substitution - Missense |
c.160C>T; p.R54W; 10:84142685-84142685 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.160C>T; p.R54W; 10:84142685-84142685 |
pancreas | carcinoma | Substitution - Missense |
c.160C>T; p.R54W; 10:84142685-84142685 |
pancreas | carcinoma | Substitution - Missense |
c.38C>G; p.P13R; 10:84141538-84141538 |
skin | malignant_melanoma | Substitution - Missense |
c.973G>A; p.D325N; 10:84152283-84152283 |
skin | malignant_melanoma | Substitution - Missense |
c.31A>G; p.T11A; 10:84141531-84141531 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.568C>T; p.H190Y; 10:84148814-84148814 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.114G>A; p.L38L; 10:84141614-84141614 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.568C>T; p.H190Y; 10:84148814-84148814 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.568C>T; p.H190Y; 10:84148814-84148814 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.228_229+6delAAGTAGGT; p.?; 10:84142753-84142760 |
skin; back | malignant_melanoma | Unknown |
c.412A>G; p.T138A; 10:84144945-84144945 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.684C>T; p.G228G; 10:84150146-84150146 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.874C>G; p.L292V; 10:84150801-84150801 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.604G>A; p.A202T; 10:84150066-84150066 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.23G>T; p.C8F; 10:84141523-84141523 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.348G>A; p.W116*; 10:84144881-84144881 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.401G>T; p.S134I; 10:84144934-84144934 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.10G>A; p.A4T; 10:84141510-84141510 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.953C>A; p.S318*; 10:84150880-84150880 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.773C>T; p.S258F; 10:84150235-84150235 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.348G>T; p.W116C; 10:84144881-84144881 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.102G>C; p.K34N; 10:84141602-84141602 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.349C>T; p.P117S; 10:84144882-84144882 |
skin | malignant_melanoma | Substitution - Missense |
c.331G>T; p.E111*; 10:84144096-84144096 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.28C>T; p.R10W; 10:84141528-84141528 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1008G>A; p.M336I; 10:84152318-84152318 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.212T>C; p.M71T; 10:84142737-84142737 |
breast | carcinoma | Substitution - Missense |
c.379A>G; p.T127A; 10:84144912-84144912 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.210G>A; p.S70S; 10:84142735-84142735 |
pancreas | carcinoma | Substitution - coding silent |
c.98C>T; p.T33M; 10:84141598-84141598 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.241G>T; p.G81*; 10:84144006-84144006 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.9T>C; p.A3A; 10:84141509-84141509 |
prostate | carcinoma | Substitution - coding silent |
c.241G>T; p.G81*; 10:84144006-84144006 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.360C>G; p.V120V; 10:84144893-84144893 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.264G>A; p.G88G; 10:84144029-84144029 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.483+2T>C; p.?; 10:84145018-84145018 |
prostate | carcinoma; adenocarcinoma | Unknown |
c.323G>A; p.G108E; 10:84144088-84144088 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.269C>T; p.A90V; 10:84144034-84144034 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.164G>A; p.R55H; 10:84142689-84142689 |
breast | carcinoma | Substitution - Missense |
c.164G>A; p.R55H; 10:84142689-84142689 |
stomach | adenocarcinoma | Substitution - Missense |
c.209C>T; p.S70L; 10:84142734-84142734 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |