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

Basic Information

Gene ID

8856

Name

NR1I2

Synonymous

nuclear receptor subfamily 1, group I, member 2;NR1I2;nuclear receptor subfamily 1, group I, member 2

Definition

nuclear receptor subfamily 1 group I member 2|orphan nuclear receptor PAR1|orphan nuclear receptor PXR|pregnane X nuclear receptor variant 2|pregnane X receptor|steroid and xenobiotic receptor

Position

3q12-q13.3

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 0.09.

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.980T>G; p.F327C; 3:119815047-119815047

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.913G>A; p.D305N; 3:119814980-119814980

 breastcarcinomaSubstitution - Missense

c.762G>A; p.L254L; 3:119812811-119812811

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.68G>T; p.S23I; 3:119782825-119782825

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.180G>T; p.E60D; 3:119807313-119807313

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.369C>A; p.C123*; 3:119810115-119810115

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.999G>A; p.A333A; 3:119815066-119815066

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - coding silent

c.1159C>A; p.L387I; 3:119815427-119815427

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.584A>T; p.D195V; 3:119811674-119811674

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1129G>A; p.E377K; 3:119815397-119815397

 NSmalignant_melanomaSubstitution - Missense

c.538C>A; p.Q180K; 3:119811628-119811628

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.799C>A; p.P267T; 3:119812848-119812848

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.764G>A; p.R255Q; 3:119812813-119812813

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.764G>A; p.R255Q; 3:119812813-119812813

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.144G>T; p.W48C; 3:119807277-119807277

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.182C>G; p.S61C; 3:119807315-119807315

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.766G>T; p.G256W; 3:119812815-119812815

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.645G>T; p.G215G; 3:119812694-119812694

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1254C>T; p.C418C; 3:119815808-119815808

 livercarcinomaSubstitution - coding silent

c.1388T>C; p.L463P; 3:119817178-119817178

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1372C>T; p.P458S; 3:119817162-119817162

 breastcarcinomaSubstitution - Missense

c.949G>A; p.G317R; 3:119815016-119815016

 skinmalignant_melanomaSubstitution - Missense

c.1326C>G; p.I442M; 3:119817116-119817116

 pancreascarcinomaSubstitution - Missense

c.20A>C; p.H7P; 3:119782777-119782777

 prostatecarcinomaSubstitution - Missense

c.997G>T; p.A333S; 3:119815064-119815064

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.853A>G; p.M285V; 3:119812902-119812902

 livercarcinomaSubstitution - Missense

c.333C>T; p.N111N; 3:119810079-119810079

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.214G>A; p.E72K; 3:119807347-119807347

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1256A>G; p.N419S; 3:119815810-119815810

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1055-10C>T; p.?; 3:119815313-119815313

 oesophaguscarcinoma; adenocarcinomaUnknown

c.364G>A; p.A122T; 3:119810110-119810110

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.364G>A; p.A122T; 3:119810110-119810110

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.530T>A; p.L177Q; 3:119811620-119811620

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1333C>T; p.Q445*; 3:119817123-119817123

 breastcarcinomaSubstitution - Nonsense

c.1312G>A; p.E438K; 3:119817102-119817102

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.144G>A; p.W48*; 3:119807277-119807277

 skinmalignant_melanomaSubstitution - Nonsense

c.659G>A; p.G220D; 3:119812708-119812708

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.175A>G; p.T59A; 3:119807308-119807308

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.207C>T; p.N69N; 3:119807340-119807340

 kidneyother; neoplasmSubstitution - coding silent

c.1306C>A; p.L436I; 3:119817096-119817096

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.953C>G; p.A318G; 3:119815020-119815020

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.953C>G; p.A318G; 3:119815020-119815020

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.878T>G; p.I293S; 3:119812927-119812927

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.643G>A; p.G215R; 3:119812692-119812692

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.372G>A; p.E124E; 3:119810118-119810118

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.765G>C; p.R255R; 3:119812814-119812814

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.825C>T; p.I275I; 3:119812874-119812874

 breastcarcinomaSubstitution - coding silent

c.257A>C; p.K86T; 3:119807390-119807390

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.257A>C; p.K86T; 3:119807390-119807390

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.167G>A; p.C56Y; 3:119807300-119807300

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.764delG; p.E257fs*59; 3:119812813-119812813

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.190G>A; p.G64R; 3:119807323-119807323

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.190G>A; p.G64R; 3:119807323-119807323

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.716G>A; p.S239N; 3:119812765-119812765

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1161C>T; p.L387L; 3:119815429-119815429

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.351C>T; p.P117P; 3:119810097-119810097

 skinmalignant_melanomaSubstitution - coding silent

c.1007G>A; p.G336E; 3:119815074-119815074

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1371delC; p.F459fs*>15; 3:119817161-119817161

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.74C>T; p.A25V; 3:119782831-119782831

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1084A>G; p.M362V; 3:119815352-119815352

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.839C>T; p.P280L; 3:119812888-119812888

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.241C>T; p.R81C; 3:119807374-119807374

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1404C>T; p.F468F; 3:119817194-119817194

 skinmalignant_melanomaSubstitution - coding silent

c.924C>T; p.I308I; 3:119814991-119814991

 NSmalignant_melanomaSubstitution - coding silent

c.924C>T; p.I308I; 3:119814991-119814991

 NSmalignant_melanomaSubstitution - coding silent

c.1345C>T; p.R449W; 3:119817135-119817135

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.912-1G>T; p.?; 3:119814978-119814978

 lungcarcinoma; adenocarcinomaUnknown

c.351C>A; p.P117P; 3:119810097-119810097

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.227G>A; p.G76D; 3:119807360-119807360

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.251G>A; p.G84E; 3:119807384-119807384

 skinmalignant_melanomaSubstitution - Missense

c.684G>A; p.Q228Q; 3:119812733-119812733

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.477G>C; p.E159D; 3:119811567-119811567

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.464A>T; p.E155V; 3:119811554-119811554

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1259G>A; p.R420Q; 3:119815813-119815813

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.770A>G; p.E257G; 3:119812819-119812819

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1175G>A; p.R392H; 3:119815729-119815729

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1175G>A; p.R392H; 3:119815729-119815729

 kidneyother; neoplasmSubstitution - Missense

c.1025G>A; p.R342Q; 3:119815092-119815092

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.863A>T; p.Y288F; 3:119812912-119812912

 livercarcinomaSubstitution - Missense

c.863A>T; p.Y288F; 3:119812912-119812912

 livercarcinomaSubstitution - Missense

c.863A>T; p.Y288F; 3:119812912-119812912

 livercarcinomaSubstitution - Missense

c.1130A>C; p.E377A; 3:119815398-119815398

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1253G>T; p.C418F; 3:119815807-119815807

 livercarcinomaSubstitution - Missense

c.585C>T; p.D195D; 3:119811675-119811675

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.585C>T; p.D195D; 3:119811675-119811675

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1198G>A; p.V400M; 3:119815752-119815752

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.845T>C; p.M282T; 3:119812894-119812894

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1089G>T; p.L363L; 3:119815357-119815357

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.104G>A; p.G35D; 3:119807237-119807237

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1318C>T; p.R440C; 3:119817108-119817108

 skinmalignant_melanomaSubstitution - Missense

c.786G>A; p.W262*; 3:119812835-119812835

 skin; trunkmalignant_melanomaSubstitution - Nonsense

c.955G>A; p.A319T; 3:119815022-119815022

 pancreascarcinomaSubstitution - Missense

c.884G>A; p.S295N; 3:119812933-119812933

 ovarycarcinoma; clear_cell_carcinomaSubstitution - Missense

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