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

Basic Information

Gene ID

7421

Name

VDR

Synonymous

vitamin D (1,25- dihydroxyvitamin D3) receptor;VDR;vitamin D (1,25- dihydroxyvitamin D3) receptor

Definition

1,25-dihydroxyvitamin D3 receptor|nuclear receptor subfamily 1 group I member 1|protein phosphatase 1, regulatory subunit 163|vitamin D nuclear receptor variant 1|vitamin D3 receptor

Position

12q13.11

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 0.08.

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.17C>T; p.A6V; 12:47879097-47879097

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.897C>T; p.D299D; 12:47846667-47846667

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.156G>A; p.M52I; 12:47865168-47865168

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.834C>T; p.S278S; 12:47846730-47846730

 skinmalignant_melanomaSubstitution - coding silent

c.1258G>A; p.E420K; 12:47844772-47844772

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.221G>A; p.R74H; 12:47865103-47865103

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.221G>A; p.R74H; 12:47865103-47865103

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.221G>A; p.R74H; 12:47865103-47865103

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1049C>T; p.A350V; 12:47844981-47844981

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.573C>A; p.I191I; 12:47857139-47857139

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.453C>T; p.C151C; 12:47857513-47857513

 livercarcinomaSubstitution - coding silent

c.757G>T; p.D253Y; 12:47846807-47846807

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1056T>C; p.I352I; 12:47844974-47844974

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1056T>C; p.I352I; 12:47844974-47844974

 breastcarcinomaSubstitution - coding silent

c.1056T>C; p.I352I; 12:47844974-47844974

 thyroidother; neoplasmSubstitution - coding silent

c.1056T>C; p.I352I; 12:47844974-47844974

 thyroidother; neoplasmSubstitution - coding silent

c.597G>A; p.S199S; 12:47855788-47855788

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1135C>T; p.L379F; 12:47844895-47844895

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.423G>A; p.K141K; 12:47857543-47857543

 skinmalignant_melanomaSubstitution - coding silent

c.1205G>C; p.R402P; 12:47844825-47844825

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1205G>C; p.R402P; 12:47844825-47844825

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1122G>A; p.P374P; 12:47844908-47844908

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.365C>A; p.P122H; 12:47857601-47857601

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.907+1G>T; p.?; 12:47846656-47846656

 lungcarcinoma; small_cell_carcinomaUnknown

c.1058A>T; p.E353V; 12:47844972-47844972

 skin; footmalignant_melanoma; acral_lentiginousSubstitution - Missense

c.365C>A; p.P122H; 12:47857601-47857601

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.477G>C; p.V159V; 12:47857235-47857235

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2T>C; p.M1T; 12:47879112-47879112

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.472C>T; p.R158C; 12:47857240-47857240

 skinmalignant_melanomaSubstitution - Missense

c.472C>T; p.R158C; 12:47857240-47857240

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.472C>T; p.R158C; 12:47857240-47857240

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.623G>T; p.S208I; 12:47855762-47855762

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.311G>T; p.R104L; 12:47857655-47857655

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.541G>T; p.D181Y; 12:47857171-47857171

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1050G>A; p.A350A; 12:47844980-47844980

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.548C>T; p.S183F; 12:47857164-47857164

 skinmalignant_melanomaSubstitution - Missense

c.429C>T; p.Y143Y; 12:47857537-47857537

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.429C>T; p.Y143Y; 12:47857537-47857537

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1015G>A; p.V339I; 12:47846344-47846344

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.445G>T; p.D149Y; 12:47857521-47857521

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1175G>C; p.S392T; 12:47844855-47844855

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.887G>A; p.R296H; 12:47846677-47846677

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.155T>G; p.M52R; 12:47865169-47865169

 pancreascarcinomaSubstitution - Missense

c.960G>A; p.L320L; 12:47846399-47846399

 breastcarcinomaSubstitution - coding silent

c.1116G>A; p.P372P; 12:47844914-47844914

 livercarcinomaSubstitution - coding silent

c.1239G>A; p.K413K; 12:47844791-47844791

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1116G>A; p.P372P; 12:47844914-47844914

 livercarcinomaSubstitution - coding silent

c.1116G>A; p.P372P; 12:47844914-47844914

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.434C>T; p.P145L; 12:47857532-47857532

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.150_151delAA; p.S51fs*47; 12:47865173-47865174

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.800C>T; p.A267V; 12:47846764-47846764

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1215C>T; p.S405S; 12:47844815-47844815

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1215C>T; p.S405S; 12:47844815-47844815

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.234C>T; p.A78A; 12:47865090-47865090

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.484G>T; p.G162C; 12:47857228-47857228

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.692C>T; p.A231V; 12:47855693-47855693

 skinmalignant_melanomaSubstitution - Missense

c.847G>C; p.D283H; 12:47846717-47846717

 skinmalignant_melanomaSubstitution - Missense

c.460C>T; p.R154W; 12:47857506-47857506

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.774C>A; p.D258E; 12:47846790-47846790

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.961A>G; p.K321E; 12:47846398-47846398

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.52C>T; p.R18W; 12:47879062-47879062

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.742A>G; p.I248V; 12:47855643-47855643

 pancreascarcinomaSubstitution - Missense

c.1103G>A; p.R368H; 12:47844927-47844927

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.23C>T; p.T8I; 12:47879091-47879091

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.381G>A; p.E127E; 12:47857585-47857585

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.837C>T; p.F279F; 12:47846727-47846727

 skinmalignant_melanomaSubstitution - coding silent

c.437C>T; p.T146I; 12:47857529-47857529

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.708C>A; p.Y236*; 12:47855677-47855677

 livercarcinomaSubstitution - Nonsense

c.708C>A; p.Y236*; 12:47855677-47855677

 livercarcinomaSubstitution - Nonsense

c.144C>T; p.F48F; 12:47878970-47878970

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.507G>A; p.R169R; 12:47857205-47857205

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1205G>A; p.R402H; 12:47844825-47844825

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1094C>T; p.T365M; 12:47844936-47844936

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.27C>T; p.S9S; 12:47879087-47879087

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.438C>G; p.T146T; 12:47857528-47857528

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.762C>T; p.L254L; 12:47846802-47846802

 prostatecarcinomaSubstitution - coding silent

c.389G>A; p.R130H; 12:47857577-47857577

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.155T>C; p.M52T; 12:47865169-47865169

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.885C>T; p.Y295Y; 12:47846679-47846679

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.781G>A; p.V261I; 12:47846783-47846783

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.98G>A; p.G33D; 12:47879016-47879016

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.820C>T; p.R274C; 12:47846744-47846744

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.820C>T; p.R274C; 12:47846744-47846744

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.820C>T; p.R274C; 12:47846744-47846744

 thyroidcarcinomaSubstitution - Missense

c.820C>T; p.R274C; 12:47846744-47846744

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.477G>T; p.V159V; 12:47857235-47857235

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1072C>T; p.R358C; 12:47844958-47844958

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1196A>T; p.K399M; 12:47844834-47844834

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.146+2T>C; p.?; 12:47878966-47878966

 stomachcarcinoma; adenocarcinomaUnknown

c.1254G>T; p.V418V; 12:47844776-47844776

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1198C>T; p.Q400*; 12:47844832-47844832

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.481G>A; p.D161N; 12:47857231-47857231

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.233C>G; p.A78G; 12:47865091-47865091

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1028G>A; p.R343H; 12:47845002-47845002

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.83G>C; p.G28A; 12:47879031-47879031

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.437C>A; p.T146N; 12:47857529-47857529

 ovaryother; neoplasmSubstitution - Missense

c.362G>A; p.R121Q; 12:47857604-47857604

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.217C>T; p.R73*; 12:47865107-47865107

 skinmalignant_melanomaSubstitution - Nonsense

c.31C>T; p.P11S; 12:47879083-47879083

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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