Cancer metastasis database

Annotation category 5

Gene information

Gene ID 2139
Symbol

EYA2

Synonymous

EAB1

Full name

EYA transcriptional coactivator and phosphatase 2

Gene description

eyes absent homolog 2

Cytoband

20q13.1

Gene type

protein-coding

Synonymous

MIM:601654; HGNC:HGNC:3520; Ensembl:ENSG00000064655; HPRD:09041; Vega:OTTHUMG00000033041

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.648C>T; p.S216S; 20:47074322-47074322

skinmalignant_melanomaSubstitution - coding silent

c.597G>A; p.T199T; 20:47074271-47074271

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastomaSubstitution - coding silent

c.597G>A; p.T199T; 20:47074271-47074271

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.645T>C; p.S215S; 20:47074319-47074319

breastcarcinomaSubstitution - coding silent

c.698C>T; p.A233V; 20:47089275-47089275

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.267T>C; p.P89P; 20:47005053-47005053

breastcarcinomaSubstitution - coding silent

c.809T>C; p.V270A; 20:47097089-47097089

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.809T>C; p.V270A; 20:47097089-47097089

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.277G>T; p.A93S; 20:47005063-47005063

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.290C>T; p.P97L; 20:47005076-47005076

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1192G>A; p.V398I; 20:47172861-47172861

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.293C>T; p.S98F; 20:47005079-47005079

skinmalignant_melanomaSubstitution - Missense

c.631G>A; p.V211I; 20:47074305-47074305

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.847C>T; p.H283Y; 20:47097127-47097127

skinmalignant_melanomaSubstitution - Missense

c.293C>T; p.S98F; 20:47005079-47005079

skinmalignant_melanomaSubstitution - Missense

c.719G>A; p.R240K; 20:47089296-47089296

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.762G>A; p.K254K; 20:47089339-47089339

skinmalignant_melanomaSubstitution - coding silent

c.762G>A; p.K254K; 20:47089339-47089339

skinmalignant_melanomaSubstitution - coding silent

c.921G>A; p.M307I; 20:47143091-47143091

skinmalignant_melanomaSubstitution - Missense

c.921G>A; p.M307I; 20:47143091-47143091

skin; mucosalmalignant_melanomaSubstitution - Missense

c.1258C>T; p.L420F; 20:47179857-47179857

skinmalignant_melanomaSubstitution - Missense

c.75T>C; p.A25A; 20:46990085-46990085

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.664G>A; p.E222K; 20:47089241-47089241

skinmalignant_melanomaSubstitution - Missense

c.1199G>A; p.G400E; 20:47179798-47179798

livercarcinomaSubstitution - Missense

c.810G>C; p.V270V; 20:47097090-47097090

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1602G>C; p.E534D; 20:47188118-47188118

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.500C>T; p.P167L; 20:47074174-47074174

skinmalignant_melanomaSubstitution - Missense

c.785C>T; p.A262V; 20:47089362-47089362

ovaryother; neoplasmSubstitution - Missense

c.190A>C; p.T64P; 20:47004976-47004976

breastcarcinomaSubstitution - Missense

c.193G>A; p.A65T; 20:47004979-47004979

skinmalignant_melanomaSubstitution - Missense

c.609C>T; p.V203V; 20:47074283-47074283

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.878G>A; p.R293K; 20:47097158-47097158

skin; trunkmalignant_melanomaSubstitution - Missense

c.289C>T; p.P97S; 20:47005075-47005075

skinmalignant_melanomaSubstitution - Missense

c.126C>T; p.A42A; 20:47001444-47001444

skinmalignant_melanomaSubstitution - coding silent

c.1369A>T; p.K457*; 20:47180870-47180870

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.339G>C; p.Q113H; 20:47016221-47016221

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.761A>G; p.K254R; 20:47089338-47089338

skinmalignant_melanomaSubstitution - Missense

c.1436-6G>A; p.?; 20:47183285-47183285

stomachadenocarcinomaUnknown

c.738C>T; p.D246D; 20:47089315-47089315

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.738C>T; p.D246D; 20:47089315-47089315

thyroidother; neoplasmSubstitution - coding silent

c.738C>T; p.D246D; 20:47089315-47089315

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1153C>T; p.R385W; 20:47172822-47172822

skinmalignant_melanomaSubstitution - Missense

c.826G>A; p.D276N; 20:47097106-47097106

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.908G>A; p.R303H; 20:47143078-47143078

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.908G>A; p.R303H; 20:47143078-47143078

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.908G>A; p.R303H; 20:47143078-47143078

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1034T>G; p.L345*; 20:47169194-47169194

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.715G>A; p.D239N; 20:47089292-47089292

skin; upper_legmalignant_melanomaSubstitution - Missense

c.1113C>T; p.H371H; 20:47172782-47172782

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.585G>A; p.S195S; 20:47074259-47074259

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1201T>C; p.L401L; 20:47179800-47179800

skinmalignant_melanomaSubstitution - coding silent

c.1160T>G; p.V387G; 20:47172829-47172829

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1160T>G; p.V387G; 20:47172829-47172829

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1160T>G; p.V387G; 20:47172829-47172829

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.144G>T; p.Q48H; 20:47001462-47001462

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1160T>G; p.V387G; 20:47172829-47172829

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1160T>G; p.V387G; 20:47172829-47172829

thyroidother; neoplasmSubstitution - Missense

c.1160T>G; p.V387G; 20:47172829-47172829

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.502G>A; p.G168S; 20:47074176-47074176

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.365G>A; p.S122N; 20:47016247-47016247

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1365G>A; p.L455L; 20:47180866-47180866

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.723G>A; p.P241P; 20:47089300-47089300

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.897G>A; p.T299T; 20:47143067-47143067

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.832A>T; p.T278S; 20:47097112-47097112

livercarcinomaSubstitution - Missense

c.832A>T; p.T278S; 20:47097112-47097112

livercarcinomaSubstitution - Missense

c.1053C>T; p.S351S; 20:47172722-47172722

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.813C>T; p.F271F; 20:47097093-47097093

skinmalignant_melanomaSubstitution - coding silent

c.1077C>T; p.A359A; 20:47172746-47172746

skinmalignant_melanomaSubstitution - coding silent

c.377C>T; p.S126L; 20:47016259-47016259

skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1003G>A; p.D335N; 20:47169163-47169163

skinmalignant_melanomaSubstitution - Missense

c.580C>A; p.P194T; 20:47074254-47074254

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.722C>A; p.P241Q; 20:47089299-47089299

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.749G>A; p.R250Q; 20:47089326-47089326

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.829G>A; p.E277K; 20:47097109-47097109

skinmalignant_melanomaSubstitution - Missense

c.883G>A; p.G295R; 20:47097163-47097163

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.907C>T; p.R303C; 20:47143077-47143077

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1305C>T; p.I435I; 20:47179904-47179904

skinmalignant_melanomaSubstitution - coding silent

c.1108G>A; p.V370M; 20:47172777-47172777

livercarcinomaSubstitution - Missense

c.600C>A; p.S200S; 20:47074274-47074274

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1108G>A; p.V370M; 20:47172777-47172777

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.445G>A; p.G149R; 20:47072214-47072214

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.941A>G; p.N314S; 20:47143111-47143111

skinmalignant_melanomaSubstitution - Missense

c.1108G>A; p.V370M; 20:47172777-47172777

livercarcinomaSubstitution - Missense

c.529_530delTA; p.Y177fs*45; 20:47074203-47074204

endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.1436G>A; p.G479E; 20:47183291-47183291

skinmalignant_melanomaSubstitution - Missense

c.1122G>A; p.V374V; 20:47172791-47172791

skinmalignant_melanomaSubstitution - coding silent

c.1107C>T; p.G369G; 20:47172776-47172776

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1116C>T; p.G372G; 20:47172785-47172785

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1175A>T; p.N392I; 20:47172844-47172844

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.687T>G; p.P229P; 20:47089264-47089264

skinmalignant_melanomaSubstitution - coding silent

c.483G>T; p.Q161H; 20:47072252-47072252

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1058A>G; p.D353G; 20:47172727-47172727

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.981T>G; p.D327E; 20:47169141-47169141

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1022A>C; p.N341T; 20:47169182-47169182

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1184A>G; p.K395R; 20:47172853-47172853

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.860C>T; p.T287M; 20:47097140-47097140

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.358G>T; p.G120C; 20:47016240-47016240

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.860C>T; p.T287M; 20:47097140-47097140

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.860C>T; p.T287M; 20:47097140-47097140

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.722C>T; p.P241L; 20:47089299-47089299

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.513G>T; p.Q171H; 20:47074187-47074187

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.728G>T; p.R243L; 20:47089305-47089305

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1050C>A; p.F350L; 20:47172719-47172719

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.931_938delATGATCTT; p.M311fs*11; 20:47143101-47143108

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.653C>T; p.S218L; 20:47074327-47074327

skinmalignant_melanomaSubstitution - Missense

c.741G>A; p.G247G; 20:47089318-47089318

skinmalignant_melanomaSubstitution - coding silent

c.741G>A; p.G247G; 20:47089318-47089318

skinmalignant_melanomaSubstitution - coding silent

c.215C>T; p.T72M; 20:47005001-47005001

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1110G>A; p.V370V; 20:47172779-47172779

breastcarcinomaSubstitution - coding silent

c.372C>A; p.S124R; 20:47016254-47016254

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.52G>A; p.D18N; 20:46990062-46990062

skin; trunkmalignant_melanomaSubstitution - Missense

c.1182C>T; p.Y394Y; 20:47172851-47172851

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.683G>A; p.G228E; 20:47089260-47089260

skinmalignant_melanomaSubstitution - Missense

c.699G>A; p.A233A; 20:47089276-47089276

skinmalignant_melanomaSubstitution - coding silent

c.468C>T; p.F156F; 20:47072237-47072237

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1473C>T; p.F491F; 20:47183328-47183328

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1529C>T; p.A510V; 20:47183384-47183384

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.145C>T; p.L49F; 20:47001463-47001463

skinmalignant_melanomaSubstitution - Missense

c.264A>C; p.P88P; 20:47005050-47005050

thyroidother; neoplasmSubstitution - coding silent

c.153C>T; p.S51S; 20:47001471-47001471

skinmalignant_melanomaSubstitution - coding silent

c.136G>T; p.V46L; 20:47001454-47001454

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1073C>T; p.S358L; 20:47172742-47172742

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.780C>T; p.S260S; 20:47089357-47089357

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.437G>A; p.G146E; 20:47072206-47072206

skinmalignant_melanomaSubstitution - Missense

c.703G>C; p.E235Q; 20:47089280-47089280

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1119C>A; p.G373G; 20:47172788-47172788

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.228G>A; p.A76A; 20:47005014-47005014

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.228G>A; p.A76A; 20:47005014-47005014

pancreascarcinomaSubstitution - coding silent

c.1458G>C; p.R486S; 20:47183313-47183313

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.174C>T; p.L58L; 20:47004960-47004960

skinmalignant_melanomaSubstitution - coding silent

c.174C>T; p.L58L; 20:47004960-47004960

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.174C>T; p.L58L; 20:47004960-47004960

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.156A>G; p.R52R; 20:47004942-47004942

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.902C>T; p.S301F; 20:47143072-47143072

skinmalignant_melanomaSubstitution - Missense

c.959T>C; p.L320P; 20:47143129-47143129

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.559G>A; p.V187I; 20:47074233-47074233

breastcarcinomaSubstitution - Missense

c.935T>C; p.I312T; 20:47143105-47143105

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.60G>C; p.L20L; 20:46990070-46990070

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.893C>T; p.T298I; 20:47143063-47143063

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.893C>T; p.T298I; 20:47143063-47143063

large_intestine; coloncarcinomaSubstitution - Missense

c.1128G>T; p.W376C; 20:47172797-47172797

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.893C>T; p.T298I; 20:47143063-47143063

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.416-1G>A; p.?; 20:47072184-47072184

skinmalignant_melanomaUnknown

c.805C>T; p.R269C; 20:47097085-47097085

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.805C>T; p.R269C; 20:47097085-47097085

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.563C>A; p.P188Q; 20:47074237-47074237

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1400T>C; p.F467S; 20:47180901-47180901

livercarcinomaSubstitution - Missense

c.247C>T; p.P83S; 20:47005033-47005033

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.463G>A; p.G155S; 20:47072232-47072232

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.463G>A; p.G155S; 20:47072232-47072232

large_intestineadenomaSubstitution - Missense

c.196A>G; p.M66V; 20:47004982-47004982

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.215C>A; p.T72K; 20:47005001-47005001

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1283C>T; p.S428F; 20:47179882-47179882

skinmalignant_melanomaSubstitution - Missense

c.933G>T; p.M311I; 20:47143103-47143103

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.1461A>G; p.I487M; 20:47183316-47183316

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.236A>T; p.Q79L; 20:47005022-47005022

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1402C>T; p.P468S; 20:47180903-47180903

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.844T>G; p.F282V; 20:47097124-47097124

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1402C>T; p.P468S; 20:47180903-47180903

skinmalignant_melanomaSubstitution - Missense

c.731C>A; p.A244D; 20:47089308-47089308

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1082G>A; p.G361E; 20:47172751-47172751

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.896C>A; p.T299K; 20:47143066-47143066

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.589C>T; p.L197F; 20:47074263-47074263

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1593C>T; p.H531H; 20:47188109-47188109

thyroidother; neoplasmSubstitution - coding silent

c.4G>A; p.V2I; 20:46990014-46990014

skinmalignant_melanomaSubstitution - Missense

c.864G>A; p.G288G; 20:47097144-47097144

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1054G>T; p.A352S; 20:47172723-47172723

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraSubstitution - Missense

c.1147C>T; p.R383C; 20:47172816-47172816

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.584C>T; p.S195L; 20:47074258-47074258

skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.584C>T; p.S195L; 20:47074258-47074258

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.584C>T; p.S195L; 20:47074258-47074258

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1287G>A; p.L429L; 20:47179886-47179886

NSNSSubstitution - coding silent

c.330C>T; p.S110S; 20:47016212-47016212

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.330C>T; p.S110S; 20:47016212-47016212

skinmalignant_melanomaSubstitution - coding silent

c.1114G>C; p.G372R; 20:47172783-47172783

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1537C>T; p.H513Y; 20:47188053-47188053

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.710A>T; p.D237V; 20:47089287-47089287

breastcarcinomaSubstitution - Missense

c.156-1G>C; p.?; 20:47004941-47004941

urinary_tract; bladdercarcinomaUnknown

c.509C>A; p.P170H; 20:47074183-47074183

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.524C>T; p.P175L; 20:47074198-47074198

skinmalignant_melanomaSubstitution - Missense

c.1157G>T; p.R386L; 20:47172826-47172826

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.524C>T; p.P175L; 20:47074198-47074198

skinmalignant_melanomaSubstitution - Missense

c.1530G>A; p.A510A; 20:47183385-47183385

skinmalignant_melanomaSubstitution - coding silent

c.356A>G; p.Y119C; 20:47016238-47016238

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.298+1G>C; p.?; 20:47005085-47005085

pancreascarcinomaUnknown