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

Basic Information

Gene ID

7182

Name

NR2C2

Synonymous

nuclear receptor subfamily 2, group C, member 2;NR2C2;nuclear receptor subfamily 2, group C, member 2

Definition

Nuclear hormone receptor TR4|nuclear receptor subfamily 2 group C member 2|orphan nuclear receptor TAK1|orphan nuclear receptor TR4|testicular nuclear receptor 4

Position

3p25

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

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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 0.10.

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.1104C>T; p.D368D; 3:15030389-15030389

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.276C>T; p.S92S; 3:15013735-15013735

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.505A>G; p.T169A; 3:15020824-15020824

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.481A>T; p.K161*; 3:15020800-15020800

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1524C>G; p.G508G; 3:15038094-15038094

 pancreascarcinomaSubstitution - coding silent

c.420C>T; p.G140G; 3:15016241-15016241

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1524C>G; p.G508G; 3:15038094-15038094

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.175G>A; p.A59T; 3:15013634-15013634

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1137C>T; p.P379P; 3:15030422-15030422

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.911C>G; p.A304G; 3:15028641-15028641

 skinmalignant_melanomaSubstitution - Missense

c.1204G>A; p.V402M; 3:15032415-15032415

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1262G>C; p.R421P; 3:15032473-15032473

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.777T>A; p.L259L; 3:15024130-15024130

 central_nervous_system; braingliomaSubstitution - coding silent

c.20G>A; p.R7H; 3:15003934-15003934

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1032C>A; p.S344R; 3:15030317-15030317

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1391C>T; p.A464V; 3:15034771-15034771

 stomachadenocarcinomaSubstitution - Missense

c.1555C>A; p.L519I; 3:15038125-15038125

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.70C>T; p.Q24*; 3:15003984-15003984

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.846G>A; p.T282T; 3:15024199-15024199

 breastcarcinomaSubstitution - coding silent

c.742G>T; p.A248S; 3:15023328-15023328

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1674-1G>A; p.?; 3:15042833-15042833

 skinmalignant_melanomaUnknown

c.558C>A; p.N186K; 3:15020877-15020877

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.401A>G; p.E134G; 3:15016222-15016222

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1090G>A; p.V364I; 3:15030375-15030375

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.10C>T; p.P4S; 3:15003924-15003924

 skinmalignant_melanomaSubstitution - Missense

c.1304C>T; p.T435I; 3:15034684-15034684

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1739delT; p.F582fs*10; 3:15042899-15042899

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1739delT; p.F582fs*10; 3:15042899-15042899

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1739delT; p.F582fs*10; 3:15042899-15042899

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1739delT; p.F582fs*10; 3:15042899-15042899

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1739delT; p.F582fs*10; 3:15042899-15042899

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1739delT; p.F582fs*10; 3:15042899-15042899

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1739delT; p.F582fs*10; 3:15042899-15042899

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1739delT; p.F582fs*10; 3:15042899-15042899

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1739delT; p.F582fs*10; 3:15042899-15042899

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.477C>G; p.F159L; 3:15020796-15020796

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.497A>C; p.K166T; 3:15020816-15020816

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.575G>A; p.R192Q; 3:15020894-15020894

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1303A>C; p.T435P; 3:15034683-15034683

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.819T>C; p.R273R; 3:15024172-15024172

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.376G>T; p.D126Y; 3:15016197-15016197

 livercarcinomaSubstitution - Missense

c.376G>T; p.D126Y; 3:15016197-15016197

 livercarcinomaSubstitution - Missense

c.1102G>A; p.D368N; 3:15030387-15030387

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1628A>G; p.E543G; 3:15039182-15039182

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1628A>G; p.E543G; 3:15039182-15039182

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.201A>G; p.K67K; 3:15013660-15013660

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1505C>T; p.A502V; 3:15038075-15038075

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1505C>T; p.A502V; 3:15038075-15038075

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.359G>A; p.R120H; 3:15016180-15016180

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1505C>T; p.A502V; 3:15038075-15038075

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.835C>T; p.L279F; 3:15024188-15024188

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.650G>T; p.R217L; 3:15023236-15023236

 breastcarcinomaSubstitution - Missense

c.650G>T; p.R217L; 3:15023236-15023236

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1129G>A; p.E377K; 3:15030414-15030414

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.847G>A; p.D283N; 3:15024200-15024200

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.690C>A; p.I230I; 3:15023276-15023276

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1738_1739insT; p.T583fs*25; 3:15042898-15042899

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.896T>C; p.V299A; 3:15028626-15028626

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.956A>G; p.Q319R; 3:15028686-15028686

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.285A>G; p.Q95Q; 3:15013744-15013744

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1790A>G; p.Y597C; 3:15042950-15042950

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1425G>T; p.Q475H; 3:15034805-15034805

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.379G>A; p.V127I; 3:15016200-15016200

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.551A>G; p.H184R; 3:15020870-15020870

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.640G>A; p.D214N; 3:15023226-15023226

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.580A>G; p.K194E; 3:15020899-15020899

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1516A>G; p.I506V; 3:15038086-15038086

 livercarcinomaSubstitution - Missense

c.1516A>G; p.I506V; 3:15038086-15038086

 livercarcinomaSubstitution - Missense

c.500A>T; p.N167I; 3:15020819-15020819

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1817A>G; p.Y606C; 3:15042977-15042977

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.59C>T; p.P20L; 3:15003973-15003973

 livercarcinomaSubstitution - Missense

c.59C>T; p.P20L; 3:15003973-15003973

 livercarcinomaSubstitution - Missense

c.294C>T; p.F98F; 3:15013753-15013753

 breastcarcinomaSubstitution - coding silent

c.502T>G; p.L168V; 3:15020821-15020821

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1057G>A; p.G353R; 3:15030342-15030342

 kidneyother; neoplasmSubstitution - Missense

c.761G>A; p.R254K; 3:15023347-15023347

 prostatecarcinomaSubstitution - Missense

c.874G>A; p.A292T; 3:15028604-15028604

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.752A>G; p.D251G; 3:15023338-15023338

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.212T>C; p.I71T; 3:15013671-15013671

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.277G>A; p.A93T; 3:15013736-15013736

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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