| Gene ID | 2014 |
| Symbol | EMP3 |
| Synonymous | YMP |
| Full name | epithelial membrane protein 3 |
| Gene description | EMP-3|HNMP-1|hematopoietic neural membrane protein 1 |
| Cytoband | 19q13.3 |
| Gene type | protein-coding |
| Synonymous | MIM:602335; HGNC:HGNC:3335; Ensembl:ENSG00000142227; HPRD:18514; Vega:OTTHUMG00000183196 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.18_19GG>TT; p.V7L; 19:48326862-48326863 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.412T>C; p.C138R; 19:48330390-48330390 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.412T>C; p.C138R; 19:48330390-48330390 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.208A>G; p.M70V; 19:48329378-48329378 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.60C>T; p.F20F; 19:48326904-48326904 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.194C>T; p.A65V; 19:48329364-48329364 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.26C>T; p.S9L; 19:48326870-48326870 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.457G>A; p.G153S; 19:48330435-48330435 |
skin | malignant_melanoma | Substitution - Missense |
c.127T>C; p.C43R; 19:48327569-48327569 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.141C>T; p.N47N; 19:48327583-48327583 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.61G>A; p.V21M; 19:48326905-48326905 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.124G>A; p.D42N; 19:48327566-48327566 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.64G>A; p.A22T; 19:48326908-48326908 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.275G>A; p.R92Q; 19:48329445-48329445 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.277C>T; p.R93*; 19:48329447-48329447 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.394delG; p.G133fs*>31; 19:48330372-48330372 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.438delC; p.L148fs*>16; 19:48330416-48330416 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.46C>T; p.L16F; 19:48326890-48326890 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.99G>A; p.G33G; 19:48327541-48327541 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.274C>T; p.R92*; 19:48329444-48329444 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |