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Gene information | Literature | Expression | lncRNA | Mutation | Homolog

Basic Information

Gene ID

2130

Name

EWSR1

Synonymous

EWS RNA-binding protein 1;EWSR1;EWS RNA-binding protein 1

Definition

EWS RNA-binding protein variant 6|Ewing sarcoma breakpoint region 1|Ewings sarcoma EWS-Fli1 (type 1) oncogene|RNA-binding protein EWS

Position

22q12.2

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1756G>T; p.G586*; 22:29299676-29299676

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Nonsense

c.65C>T; p.T22I; 22:29272394-29272394

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1694G>C; p.R565T; 22:29299614-29299614

 breastcarcinomaSubstitution - Missense

c.30delC; p.Q11fs*153; 22:29272232-29272232

 breastcarcinomaDeletion - Frameshift

c.1183C>T; p.Q395*; 22:29296257-29296257

 breastcarcinomaSubstitution - Nonsense

c.1306C>T; p.Q436*; 22:29297838-29297838

 breastcarcinomaSubstitution - Nonsense

c.962G>T; p.R321L; 22:29288774-29288774

 breastcarcinomaSubstitution - Missense

c.1463G>A; p.G488E; 22:29298778-29298778

 breastcarcinomaSubstitution - Missense

c.1391G>A; p.R464K; 22:29297923-29297923

 breastcarcinomaSubstitution - Missense

c.1487G>C; p.G496A; 22:29298802-29298802

 breastcarcinomaSubstitution - Missense

c.1658C>A; p.P553Q; 22:29299311-29299311

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1552C>T; p.R518*; 22:29298867-29298867

 central_nervous_system; braingliomaSubstitution - Nonsense

c.1844G>A; p.R615Q; 22:29299764-29299764

 central_nervous_system; brainglioma; astrocytoma_Grade_IISubstitution - Missense

c.1294+2T>C; p.?; 22:29296370-29296370

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.494A>T; p.Y165F; 22:29282470-29282470

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1363C>T; p.R455W; 22:29297895-29297895

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1714C>T; p.R572W; 22:29299634-29299634

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.406C>T; p.P136S; 22:29278209-29278209

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1935C>T; p.G645G; 22:29300125-29300125

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1516C>T; p.R506*; 22:29298831-29298831

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1508G>A; p.R503Q; 22:29298823-29298823

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.66C>T; p.T22T; 22:29272395-29272395

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1234G>A; p.D412N; 22:29296308-29296308

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.211G>T; p.G71*; 22:29273849-29273849

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1324G>A; p.V442I; 22:29297856-29297856

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.799T>A; p.F267I; 22:29288611-29288611

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1420_1428delCCAGGAGGC; p.G481_P483delGGP; 22:29298735-29298743

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.1164+1G>T; p.?; 22:29292607-29292607

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedUnknown

c.1164+1G>T; p.?; 22:29292607-29292607

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.53A>G; p.Y18C; 22:29272382-29272382

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1932-8C>T; p.?; 22:29300114-29300114

 kidneyother; neoplasmUnknown

c.1775G>A; p.R592H; 22:29299695-29299695

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1482A>G; p.R494R; 22:29298797-29298797

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.623A>G; p.Y208C; 22:29286964-29286964

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.874C>T; p.R292W; 22:29288686-29288686

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1684G>A; p.D562N; 22:29299604-29299604

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1483G>T; p.G495*; 22:29298798-29298798

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1202A>G; p.Y401C; 22:29296276-29296276

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1855delG; p.P622fs*4; 22:29299775-29299775

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.852A>G; p.G284G; 22:29288664-29288664

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1857G>T; p.G619G; 22:29299777-29299777

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1752C>T; p.P584P; 22:29299672-29299672

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.925C>T; p.R309C; 22:29288737-29288737

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1883A>C; p.Q628P; 22:29299803-29299803

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1883A>C; p.Q628P; 22:29299803-29299803

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1337G>A; p.R446Q; 22:29297869-29297869

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1861delC; p.P622fs*4; 22:29299781-29299781

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.377C>T; p.A126V; 22:29278180-29278180

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1038T>G; p.L346L; 22:29292162-29292162

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1823G>A; p.G608D; 22:29299743-29299743

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.651G>A; p.P217P; 22:29286992-29286992

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.372T>C; p.Y124Y; 22:29278175-29278175

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1879G>T; p.E627*; 22:29299799-29299799

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1860G>C; p.G620G; 22:29299780-29299780

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1178C>T; p.T393I; 22:29296252-29296252

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.223A>G; p.T75A; 22:29273861-29273861

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1766G>C; p.R589T; 22:29299686-29299686

 livercarcinomaSubstitution - Missense

c.1766G>C; p.R589T; 22:29299686-29299686

 livercarcinomaSubstitution - Missense

c.874C>T; p.R292W; 22:29288686-29288686

 livercarcinomaSubstitution - Missense

c.1502G>C; p.G501A; 22:29298817-29298817

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.738C>A; p.S246S; 22:29287079-29287079

 livercarcinomaSubstitution - coding silent

c.490G>A; p.G164R; 22:29282466-29282466

 livercarcinomaSubstitution - Missense

c.1971G>C; p.*657Y; 22:29300161-29300161

 livercarcinomaNonstop extension

c.1647A>T; p.E549D; 22:29299300-29299300

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1705G>T; p.G569C; 22:29299625-29299625

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1842A>T; p.R614S; 22:29299762-29299762

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1883A>C; p.Q628P; 22:29299803-29299803

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1480A>T; p.R494*; 22:29298795-29298795

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1200C>G; p.I400M; 22:29296274-29296274

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.803G>T; p.R268L; 22:29288615-29288615

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1694G>T; p.R565I; 22:29299614-29299614

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1608G>C; p.W536C; 22:29299261-29299261

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.533G>A; p.S178N; 22:29282509-29282509

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1909G>A; p.G637R; 22:29299829-29299829

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1491C>T; p.F497F; 22:29298806-29298806

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.835G>A; p.G279R; 22:29288647-29288647

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.734G>T; p.G245V; 22:29287075-29287075

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1075G>A; p.D359N; 22:29292517-29292517

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1240A>G; p.T414A; 22:29296314-29296314

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1746T>G; p.G582G; 22:29299666-29299666

 pancreascarcinomaSubstitution - coding silent

c.1234G>A; p.D412N; 22:29296308-29296308

 pancreascarcinomaSubstitution - Missense

c.1294+5G>C; p.?; 22:29296373-29296373

 parathyroidcarcinomaUnknown

c.745C>T; p.Q249*; 22:29287086-29287086

 skinmalignant_melanomaSubstitution - Nonsense

c.892G>A; p.D298N; 22:29288704-29288704

 skin; trunkmalignant_melanomaSubstitution - Missense

c.1852C>T; p.P618S; 22:29299772-29299772

 skinmalignant_melanomaSubstitution - Missense

c.1612A>T; p.T538S; 22:29299265-29299265

 skinmalignant_melanomaSubstitution - Missense

c.1042C>T; p.L348L; 22:29292166-29292166

 skinmalignant_melanomaSubstitution - coding silent

c.1306C>G; p.Q436E; 22:29297838-29297838

 skinmalignant_melanomaSubstitution - Missense

c.857C>T; p.S286F; 22:29288669-29288669

 skinmalignant_melanomaSubstitution - Missense

c.1167G>A; p.M389I; 22:29296241-29296241

 skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.1851C>T; p.G617G; 22:29299771-29299771

 skinmalignant_melanomaSubstitution - coding silent

c.1493C>T; p.P498L; 22:29298808-29298808

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.794-3C>G; p.?; 22:29288603-29288603

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.925C>T; p.R309C; 22:29288737-29288737

 skinmalignant_melanomaSubstitution - Missense

c.1306C>T; p.Q436*; 22:29297838-29297838

 skinmalignant_melanomaSubstitution - Nonsense

c.1492C>T; p.P498S; 22:29298807-29298807

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1456C>T; p.R486C; 22:29298771-29298771

 skinmalignant_melanomaSubstitution - Missense

c.1932-1G>A; p.?; 22:29300121-29300121

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.797C>T; p.S266L; 22:29288609-29288609

 skinmalignant_melanomaSubstitution - Missense

c.1506C>T; p.P502P; 22:29298821-29298821

 skinmalignant_melanomaSubstitution - coding silent

c.1363C>T; p.R455W; 22:29297895-29297895

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1457G>A; p.R486H; 22:29298772-29298772

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1861C>G; p.P621A; 22:29299781-29299781

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.673A>G; p.S225G; 22:29287014-29287014

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.67G>A; p.A23T; 22:29272396-29272396

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.67G>A; p.A23T; 22:29272396-29272396

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.742A>G; p.S248G; 22:29287083-29287083

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1971G>T; p.*657Y; 22:29300161-29300161

 stomachcarcinoma; adenocarcinomaNonstop extension

c.1411C>T; p.R471C; 22:29297943-29297943

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1904G>T; p.G635V; 22:29299824-29299824

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1412G>A; p.R471H; 22:29297944-29297944

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1412G>A; p.R471H; 22:29297944-29297944

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1351A>G; p.M451V; 22:29297883-29297883

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - Missense

c.1351A>G; p.M451V; 22:29297883-29297883

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - Missense

c.669G>A; p.Q223Q; 22:29287010-29287010

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.104C>T; p.A35V; 22:29273742-29273742

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.763A>G; p.S255G; 22:29287104-29287104

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.763A>G; p.S255G; 22:29287104-29287104

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1687C>T; p.R563C; 22:29299607-29299607

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1741C>T; p.R581C; 22:29299661-29299661

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1507C>T; p.R503W; 22:29298822-29298822

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.761A>T; p.Y254F; 22:29287102-29287102

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.761A>T; p.Y254F; 22:29287102-29287102

 urinary_tract; bladdercarcinomaSubstitution - Missense