| Gene information | Literature | Expression | lncRNA | Mutation | Homolog |
Basic Information | |
|---|---|
Gene ID | 2059 |
Name | EPS8 |
Synonymous | epidermal growth factor receptor pathway substrate 8;EPS8;epidermal growth factor receptor pathway substrate 8 |
Definition | epidermal growth factor receptor kinase substrate 8 |
Position | 12p12.3 |
Gene Type | protein-coding |
COSMIC confirmed somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1995T>G; p.G665G; 12:15631491-15631491 |
breast | carcinoma | Substitution - coding silent |
c.1663G>C; p.D555H; 12:15641736-15641736 |
breast | carcinoma | Substitution - Missense |
c.287C>G; p.A96G; 12:15669743-15669743 |
breast | carcinoma | Substitution - Missense |
c.2090G>A; p.R697K; 12:15624362-15624362 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.2449G>A; p.D817N; 12:15621337-15621337 |
breast | carcinoma | Substitution - Missense |
c.2056C>T; p.Q686*; 12:15624396-15624396 |
breast | carcinoma | Substitution - Nonsense |
c.982T>C; p.F328L; 12:15658541-15658541 |
breast | carcinoma | Substitution - Missense |
c.535G>A; p.D179N; 12:15666504-15666504 |
breast | carcinoma | Substitution - Missense |
c.2452delG; p.E818fs*>5; 12:15621334-15621334 |
breast | carcinoma | Deletion - Frameshift |
c.1313A>T; p.E438V; 12:15650944-15650944 |
breast | carcinoma | Substitution - Missense |
c.1508A>G; p.H503R; 12:15647187-15647187 |
breast | carcinoma | Substitution - Missense |
c.2226-3delT; p.?; 12:15623290-15623290 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.1324C>G; p.L442V; 12:15650933-15650933 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2447T>C; p.F816S; 12:15621339-15621339 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2366G>T; p.G789V; 12:15621420-15621420 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2044+1G>A; p.?; 12:15631441-15631441 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1321A>G; p.M441V; 12:15650936-15650936 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.694C>T; p.R232*; 12:15665798-15665798 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.856A>T; p.K286*; 12:15660695-15660695 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.204+1G>T; p.?; 12:15670855-15670855 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.2140C>T; p.Q714*; 12:15624312-15624312 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1847G>T; p.R616I; 12:15631639-15631639 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2387T>G; p.I796S; 12:15621399-15621399 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2456G>A; p.G819E; 12:15621330-15621330 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1267G>T; p.E423*; 12:15650990-15650990 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1736T>C; p.F579S; 12:15640788-15640788 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.70T>C; p.S24P; 12:15681292-15681292 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2352G>A; p.L784L; 12:15623161-15623161 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.516+6A>G; p.?; 12:15669381-15669381 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Unknown |
c.919A>G; p.K307E; 12:15660632-15660632 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.230G>A; p.R77Q; 12:15669800-15669800 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.2138G>T; p.R713L; 12:15624314-15624314 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.1927G>T; p.A643S; 12:15631559-15631559 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1434G>C; p.E478D; 12:15650823-15650823 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1262C>T; p.P421L; 12:15650995-15650995 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.744A>G; p.K248K; 12:15662092-15662092 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1998C>T; p.G666G; 12:15631488-15631488 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.781A>G; p.M261V; 12:15662055-15662055 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.793C>T; p.R265C; 12:15662043-15662043 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1179C>A; p.F393L; 12:15654216-15654216 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1300C>T; p.R434C; 12:15650957-15650957 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1300C>T; p.R434C; 12:15650957-15650957 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2311G>A; p.A771T; 12:15623202-15623202 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.749G>T; p.R250M; 12:15662087-15662087 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1711C>T; p.R571*; 12:15640813-15640813 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2226-6_2226-3delTTTT; p.?; 12:15623290-15623293 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.1712G>A; p.R571Q; 12:15640812-15640812 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2465A>G; p.H822R; 12:15621321-15621321 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2465A>G; p.H822R; 12:15621321-15621321 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.378G>T; p.E126D; 12:15669525-15669525 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.378G>T; p.E126D; 12:15669525-15669525 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1685A>T; p.D562V; 12:15640839-15640839 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1307G>A; p.G436D; 12:15650950-15650950 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.639C>T; p.P213P; 12:15665853-15665853 |
large_intestine; rectum | NS | Substitution - coding silent |
c.1061C>T; p.A354V; 12:15658119-15658119 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.660C>T; p.P220P; 12:15665832-15665832 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.445C>A; p.L149I; 12:15669458-15669458 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.445C>A; p.L149I; 12:15669458-15669458 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>T; p.D104Y; 12:15669720-15669720 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1821G>A; p.Q607Q; 12:15640703-15640703 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1768C>T; p.P590S; 12:15640756-15640756 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2146G>A; p.V716M; 12:15624306-15624306 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2461A>T; p.S821C; 12:15621325-15621325 |
liver | carcinoma | Substitution - Missense |
c.1903G>T; p.V635F; 12:15631583-15631583 |
liver | carcinoma | Substitution - Missense |
c.1903G>T; p.V635F; 12:15631583-15631583 |
liver | carcinoma | Substitution - Missense |
c.1369G>A; p.A457T; 12:15650888-15650888 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2129A>G; p.H710R; 12:15624323-15624323 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.793_794insT; p.R265fs*3; 12:15662042-15662043 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1919C>G; p.S640C; 12:15631567-15631567 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2303C>T; p.P768L; 12:15623210-15623210 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.397A>G; p.I133V; 12:15669506-15669506 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2046A>G; p.R682R; 12:15624406-15624406 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.598A>T; p.R200W; 12:15666441-15666441 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.365A>T; p.K122M; 12:15669665-15669665 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.197G>T; p.R66L; 12:15670863-15670863 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2157C>G; p.I719M; 12:15624295-15624295 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.918T>C; p.G306G; 12:15660633-15660633 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2226-3delT; p.?; 12:15623290-15623290 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.131T>G; p.L44R; 12:15681231-15681231 |
NS | malignant_melanoma | Substitution - Missense |
c.1955C>T; p.A652V; 12:15631531-15631531 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1576G>A; p.E526K; 12:15641823-15641823 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.888G>C; p.E296D; 12:15660663-15660663 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.721G>C; p.A241P; 12:15665771-15665771 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1183A>C; p.N395H; 12:15654212-15654212 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.26C>A; p.P9H; 12:15682926-15682926 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.205-10C>G; p.?; 12:15669835-15669835 |
ovary | other; neoplasm | Unknown |
c.1100T>A; p.M367K; 12:15658080-15658080 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1057A>G; p.S353G; 12:15658123-15658123 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2422G>A; p.A808T; 12:15621364-15621364 |
pancreas | carcinoma | Substitution - Missense |
c.1434+1G>T; p.?; 12:15650822-15650822 |
pancreas | carcinoma; ductal_carcinoma | Unknown |
c.1434+1G>T; p.?; 12:15650822-15650822 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Unknown |
c.1906C>A; p.P636T; 12:15631580-15631580 |
skin | malignant_melanoma | Substitution - Missense |
c.2127C>T; p.F709F; 12:15624325-15624325 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.653C>T; p.P218L; 12:15665839-15665839 |
skin | malignant_melanoma | Substitution - Missense |
c.973_974CC>TT; p.P325F; 12:15658549-15658550 |
skin | malignant_melanoma | Substitution - Missense |
c.973_974CC>TT; p.P325F; 12:15658549-15658550 |
skin | malignant_melanoma | Substitution - Missense |
c.956G>C; p.R319P; 12:15658567-15658567 |
skin | malignant_melanoma | Substitution - Missense |
c.2305G>A; p.E769K; 12:15623208-15623208 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1881T>G; p.P627P; 12:15631605-15631605 |
skin; upper_leg | malignant_melanoma | Substitution - coding silent |
c.2004C>T; p.I668I; 12:15631482-15631482 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2004C>T; p.I668I; 12:15631482-15631482 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1756G>A; p.D586N; 12:15640768-15640768 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.229C>T; p.R77W; 12:15669801-15669801 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1771C>T; p.P591S; 12:15640753-15640753 |
skin | malignant_melanoma | Substitution - Missense |
c.2174C>T; p.S725F; 12:15624278-15624278 |
skin | malignant_melanoma | Substitution - Missense |
c.1594_1595CC>TT; p.P532F; 12:15641804-15641805 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.508G>A; p.E170K; 12:15669395-15669395 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.230G>T; p.R77L; 12:15669800-15669800 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.367-1G>A; p.?; 12:15669537-15669537 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1232G>A; p.G411E; 12:15654163-15654163 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1513G>A; p.D505N; 12:15647182-15647182 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1637A>G; p.N546S; 12:15641762-15641762 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.956G>T; p.R319L; 12:15658567-15658567 |
skin | malignant_melanoma | Substitution - Missense |
c.184A>T; p.I62L; 12:15670876-15670876 |
skin | malignant_melanoma | Substitution - Missense |
c.87_88CC>TT; p.Q30*; 12:15681274-15681275 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1843C>T; p.P615S; 12:15631643-15631643 |
skin | malignant_melanoma | Substitution - Missense |
c.1091C>T; p.P364L; 12:15658089-15658089 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.2194A>G; p.T732A; 12:15624258-15624258 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1292C>T; p.P431L; 12:15650965-15650965 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2312C>T; p.A771V; 12:15623201-15623201 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1711C>T; p.R571*; 12:15640813-15640813 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1961T>A; p.I654K; 12:15631525-15631525 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.466C>T; p.P156S; 12:15669437-15669437 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.592G>A; p.A198T; 12:15666447-15666447 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.592G>A; p.A198T; 12:15666447-15666447 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.963A>G; p.K321K; 12:15658560-15658560 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1055C>G; p.P352R; 12:15658125-15658125 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.991T>G; p.C331G; 12:15658532-15658532 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1599G>C; p.K533N; 12:15641800-15641800 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.158G>A; p.R53Q; 12:15670902-15670902 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2215T>C; p.F739L; 12:15624237-15624237 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2215T>C; p.F739L; 12:15624237-15624237 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2226-3delT; p.?; 12:15623290-15623290 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.230G>A; p.R77Q; 12:15669800-15669800 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.695G>T; p.R232L; 12:15665797-15665797 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.695G>T; p.R232L; 12:15665797-15665797 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.756T>C; p.Y252Y; 12:15662080-15662080 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1255G>C; p.E419Q; 12:15651002-15651002 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1255G>C; p.E419Q; 12:15651002-15651002 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1139C>A; p.S380*; 12:15654256-15654256 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1251-1G>A; p.?; 12:15651007-15651007 |
urinary_tract; bladder | carcinoma | Unknown |