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

Basic Information

Gene ID

23532

Name

PRAME

Synonymous

preferentially expressed antigen in melanoma;PRAME;preferentially expressed antigen in melanoma

Definition

Opa-interacting protein OIP4|cancer/testis antigen 130|melanoma antigen preferentially expressed in tumors|opa-interacting protein 4|preferentially expressed antigen of melanoma

Position

22q11.22

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.672G>T; p.K224N; 22:22550007-22550007

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.289T>G; p.F97V; 22:22550822-22550822

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1116G>A; p.L372L; 22:22548481-22548481

 breastcarcinomaSubstitution - coding silent

c.1269G>C; p.L423F; 22:22548328-22548328

 breastcarcinomaSubstitution - Missense

c.434C>G; p.S145*; 22:22550245-22550245

 breastcarcinomaSubstitution - Nonsense

c.476G>A; p.R159Q; 22:22550203-22550203

 breastcarcinomaSubstitution - Missense

c.1340G>A; p.S447N; 22:22548257-22548257

 breastcarcinomaSubstitution - Missense

c.19T>C; p.W7R; 22:22556814-22556814

 breastcarcinomaSubstitution - Missense

c.19T>C; p.W7R; 22:22556814-22556814

 breastcarcinomaSubstitution - Missense

c.21+3A>G; p.?; 22:22556809-22556809

 central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.1482_1484delCTT; p.F495delF; 22:22548113-22548115

 central_nervous_system; braingliomaDeletion - In frame

c.1004C>T; p.S335L; 22:22548593-22548593

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1147C>A; p.L383M; 22:22548450-22548450

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastomaSubstitution - Missense

c.1147C>A; p.L383M; 22:22548450-22548450

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.272A>G; p.H91R; 22:22550839-22550839

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.620G>A; p.R207H; 22:22550059-22550059

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.272A>G; p.H91R; 22:22550839-22550839

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1504C>T; p.L502L; 22:22548093-22548093

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1029C>T; p.S343S; 22:22548568-22548568

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.133C>A; p.L45M; 22:22550978-22550978

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.565G>A; p.D189N; 22:22550114-22550114

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.475C>T; p.R159*; 22:22550204-22550204

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1507T>C; p.C503R; 22:22548090-22548090

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.13C>T; p.R5C; 22:22556820-22556820

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1397G>T; p.R466M; 22:22548200-22548200

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1338G>A; p.E446E; 22:22548259-22548259

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.148A>G; p.R50G; 22:22550963-22550963

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.731G>A; p.W244*; 22:22549948-22549948

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Nonsense

c.731G>A; p.W244*; 22:22549948-22549948

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Nonsense

c.577T>G; p.S193A; 22:22550102-22550102

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.287C>A; p.T96N; 22:22550824-22550824

 kidneyother; neoplasmSubstitution - Missense

c.1439T>C; p.V480A; 22:22548158-22548158

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.312T>G; p.L104L; 22:22550799-22550799

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.847C>T; p.Q283*; 22:22549832-22549832

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.812A>G; p.H271R; 22:22549867-22549867

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.456T>C; p.A152A; 22:22550223-22550223

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.456T>C; p.A152A; 22:22550223-22550223

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1504C>A; p.L502M; 22:22548093-22548093

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.139T>A; p.L47M; 22:22550972-22550972

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.856G>A; p.A286T; 22:22549823-22549823

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.856G>A; p.A286T; 22:22549823-22549823

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.799C>T; p.L267F; 22:22549880-22549880

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.780T>C; p.I260I; 22:22549899-22549899

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1390C>T; p.H464Y; 22:22548207-22548207

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.571T>C; p.L191L; 22:22550108-22550108

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.620G>A; p.R207H; 22:22550059-22550059

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.620G>A; p.R207H; 22:22550059-22550059

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.162G>A; p.P54P; 22:22550949-22550949

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.162G>A; p.P54P; 22:22550949-22550949

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1110A>T; p.Q370H; 22:22548487-22548487

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1110A>G; p.Q370Q; 22:22548487-22548487

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1164T>C; p.C388C; 22:22548433-22548433

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1505T>G; p.L502R; 22:22548092-22548092

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.19T>C; p.W7R; 22:22556814-22556814

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.700T>G; p.S234A; 22:22549979-22549979

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1323T>C; p.Y441Y; 22:22548274-22548274

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.505G>A; p.E169K; 22:22550174-22550174

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.669C>A; p.I223I; 22:22550010-22550010

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.633G>A; p.K211K; 22:22550046-22550046

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.193C>A; p.H65N; 22:22550918-22550918

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.987A>T; p.I329I; 22:22548610-22548610

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1315G>A; p.V439M; 22:22548282-22548282

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1274G>C; p.S425T; 22:22548323-22548323

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1073G>T; p.G358V; 22:22548524-22548524

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.132C>T; p.A44A; 22:22550979-22550979

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.1276C>G; p.L426V; 22:22548321-22548321

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1482_1484delCTT; p.F495delF; 22:22548113-22548115

 lungcarcinoma; large_cell_carcinomaDeletion - In frame

c.305A>T; p.D102V; 22:22550806-22550806

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1119G>A; p.L373L; 22:22548478-22548478

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1166G>T; p.G389V; 22:22548431-22548431

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.934C>A; p.R312S; 22:22549745-22549745

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1005G>A; p.S335S; 22:22548592-22548592

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.844G>C; p.E282Q; 22:22549835-22549835

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1432A>T; p.S478C; 22:22548165-22548165

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.249G>A; p.L83L; 22:22550862-22550862

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.769G>A; p.G257S; 22:22549910-22549910

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.235A>C; p.T79P; 22:22550876-22550876

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1519A>T; p.M507L; 22:22548078-22548078

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.19T>C; p.W7R; 22:22556814-22556814

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1401C>T; p.L467L; 22:22548196-22548196

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.948G>A; p.L316L; 22:22549731-22549731

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1358G>T; p.G453V; 22:22548239-22548239

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1399C>A; p.L467I; 22:22548198-22548198

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.447A>G; p.P149P; 22:22550232-22550232

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1429C>A; p.P477T; 22:22548168-22548168

 oesophaguscarcinomaSubstitution - Missense

c.602G>A; p.R201Q; 22:22550077-22550077

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1041C>T; p.S347S; 22:22548556-22548556

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.978C>T; p.T326T; 22:22548619-22548619

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.10_11AG>TT; p.R4L; 22:22556822-22556823

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1050G>A; p.Q350Q; 22:22548547-22548547

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.929G>C; p.R310T; 22:22549750-22549750

 ovaryother; neoplasmSubstitution - Missense

c.212C>T; p.A71V; 22:22550899-22550899

 pancreascarcinomaSubstitution - Missense

c.1066C>T; p.L356L; 22:22548531-22548531

 pancreascarcinomaSubstitution - coding silent

c.374G>T; p.R125L; 22:22550305-22550305

 pancreascarcinomaSubstitution - Missense

c.18G>A; p.L6L; 22:22556815-22556815

 pancreascarcinomaSubstitution - coding silent

c.18G>A; p.L6L; 22:22556815-22556815

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.877C>A; p.L293I; 22:22549802-22549802

 prostatecarcinomaSubstitution - Missense

c.19T>C; p.W7R; 22:22556814-22556814

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.732G>A; p.W244*; 22:22549947-22549947

 skinmalignant_melanomaSubstitution - Nonsense

c.1499C>T; p.P500L; 22:22548098-22548098

 skinmalignant_melanomaSubstitution - Missense

c.1190C>G; p.A397G; 22:22548407-22548407

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.876_877ins12; p.F292_L293insTSQF; 22:22549802-22549803

 skinmalignant_melanomaInsertion - In frame

c.1256C>T; p.S419F; 22:22548341-22548341

 skinmalignant_melanomaSubstitution - Missense

c.576C>T; p.F192F; 22:22550103-22550103

 skinmalignant_melanomaSubstitution - coding silent

c.92G>A; p.G31E; 22:22551019-22551019

 skinmalignant_melanomaSubstitution - Missense

c.1456C>T; p.P486S; 22:22548141-22548141

 skinmalignant_melanomaSubstitution - Missense

c.3G>A; p.M1I; 22:22556830-22556830

 skinmalignant_melanomaSubstitution - Missense

c.1510C>T; p.P504S; 22:22548087-22548087

 skinmalignant_melanomaSubstitution - Missense

c.1029C>T; p.S343S; 22:22548568-22548568

 skinmalignant_melanomaSubstitution - coding silent

c.587T>C; p.I196T; 22:22550092-22550092

 skin; extremitymalignant_melanomaSubstitution - Missense

c.1358G>A; p.G453D; 22:22548239-22548239

 skinmalignant_melanomaSubstitution - Missense

c.1004C>T; p.S335L; 22:22548593-22548593

 skinmalignant_melanomaSubstitution - Missense

c.864C>T; p.F288F; 22:22549815-22549815

 skinmalignant_melanomaSubstitution - coding silent

c.337C>T; p.R113C; 22:22550774-22550774

 skinmalignant_melanomaSubstitution - Missense

c.1217C>T; p.S406F; 22:22548380-22548380

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1518C>T; p.F506F; 22:22548079-22548079

 skinmalignant_melanomaSubstitution - coding silent

c.923T>C; p.F308S; 22:22549756-22549756

 skinmalignant_melanomaSubstitution - Missense

c.1245G>A; p.G415G; 22:22548352-22548352

 skinmalignant_melanomaSubstitution - coding silent

c.1245G>A; p.G415G; 22:22548352-22548352

 skinmalignant_melanomaSubstitution - coding silent

c.158_159insC; p.P55fs*8; 22:22550952-22550953

 skinmalignant_melanomaInsertion - Frameshift

c.333G>A; p.E111E; 22:22550778-22550778

 skinmalignant_melanomaSubstitution - coding silent

c.1232T>C; p.L411S; 22:22548365-22548365

 skinmalignant_melanomaSubstitution - Missense

c.835G>A; p.E279K; 22:22549844-22549844

 skinmalignant_melanomaSubstitution - Missense

c.1180C>T; p.Q394*; 22:22548417-22548417

 skinmalignant_melanomaSubstitution - Nonsense

c.1330C>T; p.P444S; 22:22548267-22548267

 skinmalignant_melanomaSubstitution - Missense

c.116C>T; p.A39V; 22:22550995-22550995

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.758C>T; p.S253F; 22:22549921-22549921

 skinmalignant_melanomaSubstitution - Missense

c.578C>T; p.S193F; 22:22550101-22550101

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.553G>A; p.E185K; 22:22550126-22550126

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.553G>A; p.E185K; 22:22550126-22550126

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.534C>T; p.L178L; 22:22550145-22550145

 skinmalignant_melanomaSubstitution - coding silent

c.943C>T; p.Q315*; 22:22549736-22549736

 skinmalignant_melanomaSubstitution - Nonsense

c.834G>A; p.P278P; 22:22549845-22549845

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.373C>T; p.R125W; 22:22550306-22550306

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.186C>T; p.D62D; 22:22550925-22550925

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.65G>A; p.S22N; 22:22551046-22551046

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.787C>T; p.R263C; 22:22549892-22549892

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.545T>C; p.F182S; 22:22550134-22550134

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1005G>A; p.S335S; 22:22548592-22548592

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1173G>A; p.T391T; 22:22548424-22548424

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.601C>T; p.R201*; 22:22550078-22550078

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1162T>G; p.C388G; 22:22548435-22548435

 thyroidother; neoplasmSubstitution - Missense

c.374G>A; p.R125Q; 22:22550305-22550305

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.374G>A; p.R125Q; 22:22550305-22550305

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.248T>C; p.L83P; 22:22550863-22550863

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.587T>C; p.I196T; 22:22550092-22550092

 urinary_tract; bladdercarcinomaSubstitution - Missense