Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

4899

Name

NRF1

Synonymous

nuclear respiratory factor 1;NRF1;nuclear respiratory factor 1

Definition

alpha palindromic-binding protein

Position

7q32

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

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We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.17.

The copy number variations for various cancers

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The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

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

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