| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2138 |
Name | EYA1 |
Synonymous | BOP|BOR;eyes absent homolog 1 (Drosophila);EYA1;eyes absent homolog 1 (Drosophila) |
Definition | eyes absent homolog 1 |
Position | 8q13.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for EYA1 | ||
PCGP somatic mutation [Top] | ||
There is no record for EYA1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.356A>T; p.Q119L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.356A>T; p.Q119L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1151A>G; p.Q384R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.247T>A; p.S83T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.244T>G; p.F82V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1121T>G; p.L374*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.505A>C; p.S169R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.363T>C; p.A121A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1542G>C; p.L514L; |
oesophagus | carcinoma; adenocarcinoma |
c.981G>A; p.W327*; |
large_intestine; colon | carcinoma |
c.950C>A; p.P317Q; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.264C>A; p.Y88*; |
skin; arm | malignant_melanoma |
c.336A>G; p.T112T; 8:72396605-72396605 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma |
c.1358G>A; p.G453E; |
lung | carcinoma; adenocarcinoma |
c.851C>A; p.S284*; |
lung | carcinoma; adenocarcinoma |
c.512G>T; p.S171I; |
lung | carcinoma; adenocarcinoma |
c.987G>A; p.L329L; |
lung | carcinoma; adenocarcinoma |
c.204A>T; p.A68A; |
lung | carcinoma; adenocarcinoma |
c.1434G>T; p.W478C; |
lung | carcinoma; adenocarcinoma |
c.752C>T; p.S251F; |
NS | malignant_melanoma |
c.580G>A; p.G194R; |
NS | malignant_melanoma |
c.746C>A; p.T249K; |
breast | carcinoma |
c.1702G>A; p.A568T; |
prostate | carcinoma |
c.1388C>T; p.A463V; |
liver | carcinoma |
c.175G>A; p.G59R; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.1107G>T; p.L369F; |
prostate | adenoma |
c.1460C>T; p.S487L; 8:72290418-72290418 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1460C>T; p.S487L; 8:72290418-72290418 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1082G>T; p.R361L; 8:72319450-72319450 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1082G>T; p.R361L; 8:72319450-72319450 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1290G>T; p.W430C; 8:72291551-72291551 |
ovary | carcinoma; serous_carcinoma |
c.116G>A; p.G39D; 8:72429579-72429579 |
ovary | carcinoma; serous_carcinoma |
c.314C>G; p.T105S; |
ovary | carcinoma; serous_carcinoma |
c.1009C>T; p.H337Y; |
ovary | carcinoma; serous_carcinoma |
c.865G>C; p.D289H; |
lung | carcinoma; squamous_cell_carcinoma |
c.901G>T; p.G301W; |
lung | carcinoma; adenocarcinoma |
c.148A>T; p.S50C; |
lung | carcinoma; adenocarcinoma |
c.637C>T; p.Q213*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.655C>A; p.P219T; |
lung | carcinoma; adenocarcinoma |
c.1321G>T; p.V441L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1749G>T; p.L583L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1531A>T; p.K511*; |
lung | carcinoma; adenocarcinoma |
c.1417G>T; p.A473S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.75C>T; p.L25L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1310G>C; p.R437P; |
lung | carcinoma; squamous_cell_carcinoma |
c.1632G>T; p.R544S; |
lung | carcinoma; adenocarcinoma |
c.923G>A; p.R308Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1023T>G; p.T341T; |
lung | carcinoma; adenocarcinoma |
c.1054C>A; p.P352T; |
lung | carcinoma; adenocarcinoma |
c.918G>T; p.R306R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.761C>A; p.A254D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1704G>A; p.A568A; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.685T>A; p.Y229N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.626A>G; p.N209S; |
breast | carcinoma |
c.1311C>T; p.R437R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1459T>C; p.S487P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1290G>A; p.W430*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.936T>A; p.N312K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1697delA; p.K566fs*>27; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1234G>A; p.A412T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1032C>T; p.Y344Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.917G>A; p.R306Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.974T>C; p.F325S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.888T>C; p.R296R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1092A>G; p.E364E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.832A>G; p.S278G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.744G>A; p.T248T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.743C>T; p.T248M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.624T>C; p.F208F; |
breast | carcinoma |
c.892G>T; p.G298C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.574T>C; p.S192P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1217C>T; p.T406I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1603G>T; p.E535*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.794T>C; p.I265T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1083A>G; p.R361R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.336A>G; p.T112T; 8:72396605-72396605 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1083A>G; p.R361R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1594A>C; p.I532L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1008C>T; p.F336F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1703C>T; p.A568V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1108G>T; p.A370S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1702G>A; p.A568T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1033G>A; p.A345T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.208G>A; p.G70R; |
breast | carcinoma |
c.889C>T; p.R297*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1082G>A; p.R361Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.334A>G; p.T112A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1459T>C; p.S487P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.994A>G; p.T332A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1603G>T; p.E535*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1288T>C; p.W430R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1460C>T; p.S487L; 8:72290418-72290418 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.334A>G; p.T112A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1081C>A; p.R361R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1461G>T; p.S487S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1443G>A; p.L481L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.310C>T; p.Q104*; |
urinary_tract; bladder | carcinoma |
c.1674_1676delAGA; p.E561delE; |
prostate | carcinoma |
c.485G>A; p.G162E; |
skin | malignant_melanoma |
c.901G>T; p.G301W; |
skin | malignant_melanoma |
c.319G>A; p.A107T; |
skin | malignant_melanoma |
c.1408G>A; p.E470K; |
skin | malignant_melanoma |
c.1214G>A; p.G405E; |
skin | malignant_melanoma |
c.1095G>A; p.M365I; |
skin | malignant_melanoma |
c.1408G>A; p.E470K; |
skin | malignant_melanoma |
c.1373C>T; p.P458L; |
skin | malignant_melanoma |
c.1382G>A; p.R461K; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.725G>A; p.S242N; |
skin; hand | carcinoma; squamous_cell_carcinoma |