| Gene ID | 2018 |
| Symbol | EMX2 |
| Synonymous | - |
| Full name | empty spiracles homeobox 2 |
| Gene description | empty spiracles homolog 2|empty spiracles-like protein 2|homeobox protein EMX2 |
| Cytoband | 10q26.1 |
| Gene type | protein-coding |
| Synonymous | MIM:600035; HGNC:HGNC:3341; Ensembl:ENSG00000170370; HPRD:02495; Vega:OTTHUMG00000019123 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.504G>A; p.R168R; 10:117545729-117545729 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.583G>A; p.E195K; 10:117545808-117545808 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.213C>A; p.F71L; 10:117543480-117543480 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.570_571CC>AA; p.S190_L191>RI; 10:117545795-117545796 |
lung | carcinoma; adenocarcinoma | Complex - compound substitution |
c.617G>A; p.R206K; 10:117548090-117548090 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.239A>C; p.N80T; 10:117543506-117543506 |
thyroid | other; neoplasm | Substitution - Missense |
c.239A>C; p.N80T; 10:117543506-117543506 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.444_445delCG; p.L150fs*24; 10:117545669-117545670 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.352A>C; p.T118P; 10:117543619-117543619 |
prostate | carcinoma | Substitution - Missense |
c.478G>A; p.A160T; 10:117545703-117545703 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.478G>A; p.A160T; 10:117545703-117545703 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.270G>A; p.P90P; 10:117543537-117543537 |
ovary | other; neoplasm | Substitution - coding silent |
c.160_162delGCC; p.A59delA; 10:117543427-117543429 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.160_162delGCC; p.A59delA; 10:117543427-117543429 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - In frame |
c.467G>A; p.R156Q; 10:117545692-117545692 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.76C>T; p.R26C; 10:117543343-117543343 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.176C>T; p.A59V; 10:117543443-117543443 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.623A>C; p.K208T; 10:117548096-117548096 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.332C>A; p.S111*; 10:117543599-117543599 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.508G>A; p.E170K; 10:117545733-117545733 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743T>C; p.V248A; 10:117548216-117548216 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.473G>A; p.R158Q; 10:117545698-117545698 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.426G>T; p.E142D; 10:117545651-117545651 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.663G>A; p.S221S; 10:117548136-117548136 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.663G>A; p.S221S; 10:117548136-117548136 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.332C>T; p.S111L; 10:117543599-117543599 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.332C>T; p.S111L; 10:117543599-117543599 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.332C>T; p.S111L; 10:117543599-117543599 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.366G>A; p.W122*; 10:117543633-117543633 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6C>T; p.F2F; 10:117543273-117543273 |
pancreas | carcinoma | Substitution - coding silent |
c.707T>A; p.I236N; 10:117548180-117548180 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.694A>C; p.N232H; 10:117548167-117548167 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.87C>T; p.D29D; 10:117543354-117543354 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.644A>G; p.E215G; 10:117548117-117548117 |
breast | carcinoma | Substitution - Missense |
c.547G>A; p.E183K; 10:117545772-117545772 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.684G>A; p.T228T; 10:117548157-117548157 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.371T>A; p.I124N; 10:117543638-117543638 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.371T>A; p.I124N; 10:117543638-117543638 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.652G>C; p.G218R; 10:117548125-117548125 |
skin | malignant_melanoma | Substitution - Missense |
c.302C>T; p.S101F; 10:117543569-117543569 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.302C>T; p.S101F; 10:117543569-117543569 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.446C>A; p.A149E; 10:117545671-117545671 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.647A>G; p.E216G; 10:117548120-117548120 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.273G>A; p.P91P; 10:117543540-117543540 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.698G>A; p.R233Q; 10:117548171-117548171 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.722C>T; p.A241V; 10:117548195-117548195 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.202G>T; p.D68Y; 10:117543469-117543469 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.143T>G; p.L48R; 10:117543410-117543410 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.592G>T; p.V198L; 10:117548065-117548065 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.228G>A; p.S76S; 10:117543495-117543495 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.228G>A; p.S76S; 10:117543495-117543495 |
pancreas | carcinoma | Substitution - coding silent |
c.683C>T; p.T228M; 10:117548156-117548156 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.727C>T; p.P243S; 10:117548200-117548200 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.312G>A; p.S104S; 10:117543579-117543579 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.455G>A; p.R152Q; 10:117545680-117545680 |
prostate | carcinoma | Substitution - Missense |