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

Basic Information

Gene ID

3164

Name

NR4A1

Synonymous

nuclear receptor subfamily 4, group A, member 1;NR4A1;nuclear receptor subfamily 4, group A, member 1

Definition

ST-59|TR3 orphan receptor|early response protein NAK1|growth factor-inducible nuclear protein N10|hormone receptor|nerve growth factor IB nuclear receptor variant 1|nuclear hormone receptor NUR/77|nuclear receptor subfamily 4 group A member 1|orphan nucle

Position

12q13

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

Top

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

Top

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.03.

The copy number variations for various cancers

Top

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.1205A>G; p.D402G; 12:52057103-52057103

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1349G>A; p.R450H; 12:52057247-52057247

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1032G>A; p.G344G; 12:52056519-52056519

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1091T>G; p.L364R; 12:52056578-52056578

 skinmalignant_melanomaSubstitution - Missense

c.943C>T; p.R315W; 12:52056096-52056096

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1571T>G; p.V524G; 12:52058718-52058718

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.684G>A; p.T228T; 12:52055012-52055012

 breastcarcinomaSubstitution - coding silent

c.1493T>C; p.V498A; 12:52057483-52057483

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.105G>A; p.M35I; 12:52054433-52054433

 thyroidother; neoplasmSubstitution - Missense

c.264A>C; p.T88T; 12:52054592-52054592

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.453C>G; p.L151L; 12:52054781-52054781

 breastcarcinomaSubstitution - coding silent

c.366G>A; p.E122E; 12:52054694-52054694

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.337C>T; p.P113S; 12:52054665-52054665

 skinmalignant_melanomaSubstitution - Missense

c.334T>C; p.Y112H; 12:52054662-52054662

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.768G>A; p.R256R; 12:52055096-52055096

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1454G>A; p.S485N; 12:52057444-52057444

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1092C>T; p.L364L; 12:52056579-52056579

 skinmalignant_melanomaSubstitution - coding silent

c.51C>T; p.P17P; 12:52054379-52054379

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.913G>T; p.A305S; 12:52056066-52056066

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1494C>T; p.V498V; 12:52057484-52057484

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1684C>A; p.L562M; 12:52058831-52058831

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1684C>A; p.L562M; 12:52058831-52058831

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1684C>A; p.L562M; 12:52058831-52058831

 breastcarcinomaSubstitution - Missense

c.1684C>A; p.L562M; 12:52058831-52058831

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1684C>A; p.L562M; 12:52058831-52058831

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1684C>A; p.L562M; 12:52058831-52058831

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1684C>A; p.L562M; 12:52058831-52058831

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1684C>A; p.L562M; 12:52058831-52058831

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1684C>A; p.L562M; 12:52058831-52058831

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1684C>A; p.L562M; 12:52058831-52058831

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1684C>A; p.L562M; 12:52058831-52058831

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1684C>A; p.L562M; 12:52058831-52058831

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.444G>T; p.P148P; 12:52054772-52054772

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1450G>T; p.D484Y; 12:52057440-52057440

 pancreascarcinoid-endocrine_tumourSubstitution - Missense

c.1617G>A; p.V539V; 12:52058764-52058764

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.52C>T; p.R18C; 12:52054380-52054380

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.894C>T; p.N298N; 12:52056047-52056047

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1262C>T; p.A421V; 12:52057160-52057160

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1438G>A; p.G480R; 12:52057428-52057428

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1224C>G; p.D408E; 12:52057122-52057122

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.888G>A; p.Q296Q; 12:52056041-52056041

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.310G>A; p.E104K; 12:52054638-52054638

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.685G>A; p.A229T; 12:52055013-52055013

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1441G>T; p.D481Y; 12:52057431-52057431

 oesophaguscarcinomaSubstitution - Missense

c.106G>C; p.D36H; 12:52054434-52054434

 thyroidother; neoplasmSubstitution - Missense

c.286_287insCTGCCT; p.S100_F101insAS; 12:52054614-52054615

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourInsertion - In frame

c.1235G>T; p.G412V; 12:52057133-52057133

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.498T>G; p.T166T; 12:52054826-52054826

 skinmalignant_melanomaSubstitution - coding silent

c.1034G>A; p.R345Q; 12:52056521-52056521

 livercarcinomaSubstitution - Missense

c.1034G>A; p.R345Q; 12:52056521-52056521

 livercarcinomaSubstitution - Missense

c.1323G>A; p.S441S; 12:52057221-52057221

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1509C>T; p.F503F; 12:52057499-52057499

 breastcarcinomaSubstitution - coding silent

c.1424G>A; p.C475Y; 12:52057414-52057414

 breastcarcinomaSubstitution - Missense

c.612G>A; p.Q204Q; 12:52054940-52054940

 livercarcinomaSubstitution - coding silent

c.1464C>T; p.A488A; 12:52057454-52057454

 skinmalignant_melanomaSubstitution - coding silent

c.603C>A; p.S201R; 12:52054931-52054931

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.986C>T; p.A329V; 12:52056139-52056139

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1456A>G; p.I486V; 12:52057446-52057446

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.174C>T; p.D58D; 12:52054502-52054502

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1544G>C; p.R515P; 12:52058691-52058691

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1507T>C; p.F503L; 12:52057497-52057497

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1446G>A; p.W482*; 12:52057436-52057436

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.470C>T; p.S157F; 12:52054798-52054798

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.947G>A; p.R316Q; 12:52056100-52056100

 breastcarcinomaSubstitution - Missense

c.1109G>A; p.R370H; 12:52056596-52056596

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.947G>A; p.R316Q; 12:52056100-52056100

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.783T>G; p.G261G; 12:52055111-52055111

 breastcarcinomaSubstitution - coding silent

c.883G>A; p.V295M; 12:52056036-52056036

 oesophaguscarcinomaSubstitution - Missense

c.1374C>T; p.G458G; 12:52057364-52057364

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.450G>A; p.Q150Q; 12:52054778-52054778

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1539C>T; p.T513T; 12:52057529-52057529

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1314G>A; p.L438L; 12:52057212-52057212

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.394T>A; p.Y132N; 12:52054722-52054722

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.394T>A; p.Y132N; 12:52054722-52054722

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.656G>T; p.G219V; 12:52054984-52054984

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1579C>G; p.L527V; 12:52058726-52058726

 thyroidother; neoplasmSubstitution - Missense

c.112G>T; p.A38S; 12:52054440-52054440

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1500C>T; p.V500V; 12:52057490-52057490

 skinmalignant_melanomaSubstitution - coding silent

c.1041C>G; p.G347G; 12:52056528-52056528

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1069C>T; p.P357S; 12:52056556-52056556

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.416C>T; p.P139L; 12:52054744-52054744

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.767G>A; p.R256Q; 12:52055095-52055095

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.767G>A; p.R256Q; 12:52055095-52055095

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.767G>A; p.R256Q; 12:52055095-52055095

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1263G>T; p.A421A; 12:52057161-52057161

 prostateadenomaSubstitution - coding silent

c.474C>T; p.F158F; 12:52054802-52054802

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1154C>G; p.S385C; 12:52056641-52056641

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.704C>T; p.P235L; 12:52055032-52055032

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1014A>G; p.R338R; 12:52056501-52056501

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.297C>T; p.A99A; 12:52054625-52054625

 thyroidother; neoplasmSubstitution - coding silent

c.884T>A; p.V295E; 12:52056037-52056037

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1154C>T; p.S385F; 12:52056641-52056641

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1307_1308ins56; p.L438fs*1; 12:52057205-52057206

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningInsertion - Frameshift

c.1773C>A; p.I591I; 12:52058920-52058920

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.766C>T; p.R256W; 12:52055094-52055094

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.437T>G; p.F146C; 12:52054765-52054765

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.475G>A; p.G159S; 12:52054803-52054803

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1562C>T; p.P521L; 12:52058709-52058709

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1058C>T; p.P353L; 12:52056545-52056545

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1058C>T; p.P353L; 12:52056545-52056545

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.876+5C>T; p.?; 12:52055209-52055209

 oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.1076C>A; p.A359D; 12:52056563-52056563

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1033C>T; p.R345W; 12:52056520-52056520

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1033C>T; p.R345W; 12:52056520-52056520

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1033C>T; p.R345W; 12:52056520-52056520

 large_intestine; coloncarcinomaSubstitution - Missense

c.502G>A; p.E168K; 12:52054830-52054830

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1033C>T; p.R345W; 12:52056520-52056520

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.395A>G; p.Y132C; 12:52054723-52054723

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.395A>G; p.Y132C; 12:52054723-52054723

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1202G>A; p.G401E; 12:52057100-52057100

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1202G>A; p.G401E; 12:52057100-52057100

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1475C>T; p.S492F; 12:52057465-52057465

 skinmalignant_melanomaSubstitution - Missense

c.1364C>G; p.S455C; 12:52057354-52057354

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.849A>G; p.T283T; 12:52055177-52055177

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1700C>T; p.T567I; 12:52058847-52058847

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.572C>T; p.S191F; 12:52054900-52054900

 skinmalignant_melanomaSubstitution - Missense

c.292T>C; p.S98P; 12:52054620-52054620

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.870C>T; p.F290F; 12:52055198-52055198

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.486G>A; p.S162S; 12:52054814-52054814

 livercarcinomaSubstitution - coding silent

c.270G>A; p.S90S; 12:52054598-52054598

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.486G>A; p.S162S; 12:52054814-52054814

 livercarcinomaSubstitution - coding silent

c.1459C>A; p.L487M; 12:52057449-52057449

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1335G>T; p.E445D; 12:52057233-52057233

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3G>C; p.M1I; 12:52054331-52054331

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1134C>T; p.S378S; 12:52056621-52056621

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.877-7C>T; p.?; 12:52056023-52056023

 lungcarcinoma; squamous_cell_carcinomaUnknown

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