| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2130 |
Name | EWSR1 |
Synonymous | EWS|bK984G1.4;Ewing sarcoma breakpoint region 1;EWSR1;Ewing sarcoma breakpoint region 1 |
Definition | Ewings sarcoma EWS-Fli1 (type 1) oncogene|RNA-binding protein EWS |
Position | 22q12.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for EWSR1 | ||
PCGP somatic mutation [Top] | ||
There is no record for EWSR1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1883A>C; p.Q628P; |
large_intestine | carcinoma; adenocarcinoma |
c.1883A>C; p.Q628P; |
large_intestine | carcinoma; adenocarcinoma |
c.1879G>T; p.E627*; |
large_intestine | carcinoma; adenocarcinoma |
c.1480A>T; p.R494*; |
lung | carcinoma; squamous_cell_carcinoma |
c.1647A>T; p.E549D; |
lung | carcinoma; small_cell_carcinoma |
c.874C>T; p.R292W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1823G>A; p.G608D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.835G>A; p.G279R; |
oesophagus | carcinoma; adenocarcinoma |
c.1502G>C; p.G501A; |
liver | carcinoma; hepatocellular_carcinoma |
c.1766G>C; p.R589T; |
liver | carcinoma |
c.874C>T; p.R292W; |
liver | carcinoma |
c.738C>A; p.S246S; |
liver | carcinoma |
c.669G>A; p.Q223Q; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1167G>A; p.M389I; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.803G>T; p.R268L; |
lung | carcinoma; adenocarcinoma |
c.1491C>T; p.F497F; |
lung | carcinoma; adenocarcinoma |
c.1658C>A; p.P553Q; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.892G>A; p.D298N; |
skin; trunk | malignant_melanoma |
c.1183C>T; p.Q395*; |
breast | carcinoma |
c.1842A>T; p.R614S; |
lung | carcinoma; small_cell_carcinoma |
c.1075G>A; p.D359N; |
ovary | carcinoma; serous_carcinoma |
c.1200C>G; p.I400M; |
lung | carcinoma; squamous_cell_carcinoma |
c.734G>T; p.G245V; |
ovary | carcinoma; serous_carcinoma |
c.1240A>G; p.T414A; 22:28022304-28022304 |
ovary | carcinoma; serous_carcinoma |
c.1883A>C; p.Q628P; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1705G>T; p.G569C; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.533G>A; p.S178N; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1608G>C; p.W536C; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1909G>A; p.G637R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1487G>C; p.G496A; |
breast | carcinoma |
c.1306C>T; p.Q436*; |
breast | carcinoma |
c.1483G>T; p.G495*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1855delG; p.P622fs*4; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1857G>T; p.G619G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1752C>T; p.P584P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1164+1G>T; p.?; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.53A>G; p.Y18C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1463G>A; p.G488E; |
breast | carcinoma |
c.1935C>T; p.G645G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.211G>T; p.G71*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.494A>T; p.Y165F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.406C>T; p.P136S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.66C>T; p.T22T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1508G>A; p.R503Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1294+2T>C; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1324G>A; p.V442I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1038T>G; p.L346L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.925C>T; p.R309C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1420_1428delCCAGGAGGC; p.G481_P483delGGP; |
endometrium | carcinoma; endometrioid_carcinoma |
c.799T>A; p.F267I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1234G>A; p.D412N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.30delC; p.Q11fs*153; |
breast | carcinoma |
c.1391G>A; p.R464K; |
breast | carcinoma |
c.1363C>T; p.R455W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1714C>T; p.R572W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1687C>T; p.R563C; |
urinary_tract; bladder | carcinoma |
c.852A>G; p.G284G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.651G>A; p.P217P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1684G>A; p.D562N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1775G>A; p.R592H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.372T>C; p.Y124Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1516C>T; p.R506*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1860G>C; p.G620G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.377C>T; p.A126V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1507C>T; p.R503W; |
urinary_tract; bladder | carcinoma |
c.1844G>A; p.R615Q; |
central_nervous_system; brain | glioma; astrocytoma_Grade_II |