Cancer metastasis database

Annotation category 5

Gene information

Gene ID 4899
Symbol

NRF1

Synonymous

ALPHA-PAL

Full name

nuclear respiratory factor 1

Gene description

alpha palindromic-binding protein

Cytoband

7q32

Gene type

protein-coding

Synonymous

MIM:600879; HGNC:HGNC:7996; Ensembl:ENSG00000106459; HPRD:02930; Vega:OTTHUMG00000143736

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1215G>A; p.A405A; 7:129717368-129717368

livercarcinomaSubstitution - coding silent

c.1143G>A; p.A381A; 7:129717296-129717296

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.742C>A; p.R248S; 7:129709210-129709210

breastcarcinomaSubstitution - Missense

c.787C>T; p.R263W; 7:129710395-129710395

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.787C>T; p.R263W; 7:129710395-129710395

stomachadenocarcinomaSubstitution - Missense

c.141T>G; p.S47S; 7:129657492-129657492

prostateadenomaSubstitution - coding silent

c.141T>G; p.S47S; 7:129657492-129657492

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.141T>G; p.S47S; 7:129657492-129657492

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.141T>G; p.S47S; 7:129657492-129657492

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.161A>T; p.D54V; 7:129657512-129657512

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.743G>T; p.R248L; 7:129709211-129709211

prostatecarcinomaSubstitution - Missense

c.587C>T; p.S196F; 7:129690527-129690527

skin; scalpmalignant_melanomaSubstitution - Missense

c.1245C>T; p.V415V; 7:129727262-129727262

pancreascarcinomaSubstitution - coding silent

c.1078T>C; p.W360R; 7:129717231-129717231

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.908C>A; p.S303*; 7:129710516-129710516

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1212G>A; p.M404I; 7:129717365-129717365

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1225G>A; p.E409K; 7:129727242-129727242

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1225G>A; p.E409K; 7:129727242-129727242

haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.1225G>A; p.E409K; 7:129727242-129727242

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1504G>C; p.E502Q; 7:129755173-129755173

cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.401G>T; p.C134F; 7:129677694-129677694

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1377C>T; p.Y459Y; 7:129755046-129755046

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.251_253delCTG; p.A84delA; 7:129671456-129671458

large_intestine; coloncarcinomaDeletion - In frame

c.971C>T; p.T324M; 7:129711482-129711482

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.971C>T; p.T324M; 7:129711482-129711482

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1318G>T; p.G440*; 7:129727335-129727335

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.43A>G; p.I15V; 7:129657394-129657394

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.367A>T; p.T123S; 7:129677660-129677660

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.616C>T; p.R206W; 7:129709084-129709084

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.70G>A; p.V24M; 7:129657421-129657421

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1147G>A; p.A383T; 7:129717300-129717300

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1147G>A; p.A383T; 7:129717300-129717300

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.674G>T; p.G225V; 7:129709142-129709142

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.140_141CT>TG; p.S47L; 7:129657491-129657492

skinmalignant_melanomaSubstitution - Missense

c.187G>A; p.A63T; 7:129657538-129657538

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.717C>T; p.P239P; 7:129709185-129709185

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1461C>T; p.S487S; 7:129755130-129755130

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1151C>T; p.S384L; 7:129717304-129717304

skinmalignant_melanomaSubstitution - Missense

c.805T>G; p.C269G; 7:129710413-129710413

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.157T>G; p.Y53D; 7:129657508-129657508

ovaryother; neoplasmSubstitution - Missense

c.1185G>T; p.E395D; 7:129717338-129717338

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.906A>G; p.P302P; 7:129710514-129710514

breastcarcinomaSubstitution - coding silent

c.1484C>T; p.A495V; 7:129755153-129755153

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.770C>T; p.S257L; 7:129710378-129710378

skinmalignant_melanomaSubstitution - Missense

c.241_243delGCT; p.A84delA; 7:129671446-129671448

large_intestinecarcinoma; adenocarcinomaDeletion - In frame

c.62C>T; p.A21V; 7:129657413-129657413

breastcarcinomaSubstitution - Missense

c.929T>C; p.F310S; 7:129710537-129710537

livercarcinomaSubstitution - Missense

c.691C>T; p.P231S; 7:129709159-129709159

skinmalignant_melanomaSubstitution - Missense

c.1399G>A; p.A467T; 7:129755068-129755068

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.814C>A; p.Q272K; 7:129710422-129710422

bone; vertebraeEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.457G>A; p.E153K; 7:129677750-129677750

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.815A>T; p.Q272L; 7:129710423-129710423

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1349-4C>T; p.?; 7:129755014-129755014

ovaryother; neoplasmUnknown

c.1349-4C>T; p.?; 7:129755014-129755014

ovaryother; neoplasmUnknown

c.860C>T; p.T287M; 7:129710468-129710468

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1185G>A; p.E395E; 7:129717338-129717338

livercarcinomaSubstitution - coding silent

c.1185G>A; p.E395E; 7:129717338-129717338

livercarcinomaSubstitution - coding silent

c.1306G>A; p.A436T; 7:129727323-129727323

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.565A>C; p.T189P; 7:129690505-129690505

breastcarcinomaSubstitution - Missense

c.1317C>T; p.V439V; 7:129727334-129727334

livercarcinomaSubstitution - coding silent

c.1019C>T; p.T340M; 7:129711530-129711530

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.628_629CC>AA; p.P210K; 7:129709096-129709097

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.337C>T; p.R113W; 7:129671542-129671542

skinmalignant_melanomaSubstitution - Missense

c.1142C>T; p.A381V; 7:129717295-129717295

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.978A>T; p.A326A; 7:129711489-129711489

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.28G>A; p.E10K; 7:129657379-129657379

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1458C>G; p.D486E; 7:129755127-129755127

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1148C>T; p.A383V; 7:129717301-129717301

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1152G>A; p.S384S; 7:129717305-129717305

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1496T>C; p.V499A; 7:129755165-129755165

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.353C>T; p.T118M; 7:129677646-129677646

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.353C>T; p.T118M; 7:129677646-129677646

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1405G>A; p.G469S; 7:129755074-129755074

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.346C>T; p.R116*; 7:129677639-129677639

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.346C>T; p.R116*; 7:129677639-129677639

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Nonsense

c.657G>A; p.R219R; 7:129709125-129709125

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.346C>T; p.R116*; 7:129677639-129677639

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.346C>T; p.R116*; 7:129677639-129677639

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastomaSubstitution - Nonsense

c.920T>A; p.V307D; 7:129710528-129710528

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1422G>A; p.Q474Q; 7:129755091-129755091

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.522C>T; p.H174H; 7:129690462-129690462

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.132G>A; p.S44S; 7:129657483-129657483

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent