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

Basic Information

Gene ID

29117

Name

BRD7

Synonymous

bromodomain containing 7;BRD7;bromodomain containing 7

Definition

75 kDa bromodomain protein|bromodomain-containing protein 7|protein CELTIX-1

Position

16q12

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 0.31.

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.1487C>T; p.A496V; 16:50321995-50321995

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1909G>T; p.E637*; 16:50319258-50319258

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.526A>G; p.M176V; 16:50350088-50350088

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1585G>A; p.V529I; 16:50320690-50320690

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.892G>C; p.D298H; 16:50333693-50333693

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.493G>A; p.A165T; 16:50350121-50350121

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.846C>T; p.A282A; 16:50334752-50334752

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.846C>T; p.A282A; 16:50334752-50334752

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1012-1G>C; p.?; 16:50328745-50328745

 pancreascarcinomaUnknown

c.1867G>A; p.V623I; 16:50319920-50319920

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.399G>C; p.Q133H; 16:50354472-50354472

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.565G>T; p.D189Y; 16:50350049-50350049

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.286C>T; p.R96W; 16:50354895-50354895

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.286C>T; p.R96W; 16:50354895-50354895

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.703-1G>T; p.?; 16:50334896-50334896

 prostatecarcinoma; adenocarcinomaUnknown

c.1381G>C; p.D461H; 16:50323649-50323649

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1923G>A; p.T641T; 16:50319244-50319244

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1339G>T; p.E447*; 16:50323691-50323691

 skinmalignant_melanomaSubstitution - Nonsense

c.260A>G; p.E87G; 16:50354921-50354921

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.147C>T; p.F49F; 16:50368201-50368201

 skinmalignant_melanomaSubstitution - coding silent

c.1413_1414insG; p.H472fs*14; 16:50323616-50323617

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.398A>G; p.Q133R; 16:50354473-50354473

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1365T>G; p.Y455*; 16:50323665-50323665

 livercarcinomaSubstitution - Nonsense

c.349C>T; p.P117S; 16:50354832-50354832

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.406C>T; p.L136F; 16:50354465-50354465

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1015G>A; p.E339K; 16:50328741-50328741

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.403C>T; p.P135S; 16:50354468-50354468

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1834C>T; p.R612*; 16:50319953-50319953

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1834C>T; p.R612*; 16:50319953-50319953

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1834C>T; p.R612*; 16:50319953-50319953

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.745G>C; p.D249H; 16:50334853-50334853

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1352C>A; p.T451K; 16:50323678-50323678

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1834C>T; p.R612*; 16:50319953-50319953

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1656G>A; p.L552L; 16:50320348-50320348

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.963C>T; p.I321I; 16:50333622-50333622

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.591+1G>A; p.?; 16:50350022-50350022

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1366C>T; p.P456S; 16:50323664-50323664

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1873G>A; p.E625K; 16:50319914-50319914

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1922C>T; p.T641M; 16:50319245-50319245

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1341G>A; p.E447E; 16:50323689-50323689

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1368delG; p.Y457fs*11; 16:50323662-50323662

 soft_tissue; striated_musclerhabdomyosarcoma; embryonalDeletion - Frameshift

c.680C>T; p.S227L; 16:50339998-50339998

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1869C>A; p.V623V; 16:50319918-50319918

 breastcarcinomaSubstitution - coding silent

c.422A>G; p.N141S; 16:50354449-50354449

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.846C>G; p.A282A; 16:50334752-50334752

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.831_832insAGAG; p.D278fs*19; 16:50334766-50334767

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.447-1G>T; p.?; 16:50350168-50350168

 stomachcarcinoma; adenocarcinomaUnknown

c.1710G>A; p.P570P; 16:50320294-50320294

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1710G>A; p.P570P; 16:50320294-50320294

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1709C>T; p.P570L; 16:50320295-50320295

 skinmalignant_melanomaSubstitution - Missense

c.637C>T; p.P213S; 16:50340041-50340041

 skinmalignant_melanomaSubstitution - Missense

c.122G>T; p.S41I; 16:50368226-50368226

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1334T>G; p.I445S; 16:50323696-50323696

 breastcarcinomaSubstitution - Missense

c.877G>T; p.E293*; 16:50334721-50334721

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.751C>G; p.Q251E; 16:50334847-50334847

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.751C>G; p.Q251E; 16:50334847-50334847

 livercarcinomaSubstitution - Missense

c.561C>T; p.N187N; 16:50350053-50350053

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1444-4A>G; p.?; 16:50322042-50322042

 livercarcinomaUnknown

c.1273G>A; p.D425N; 16:50325806-50325806

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1407A>C; p.K469N; 16:50323623-50323623

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1534T>C; p.S512P; 16:50320741-50320741

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.506C>G; p.S169C; 16:50350108-50350108

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.274C>T; p.R92*; 16:50354907-50354907

 livercarcinomaSubstitution - Nonsense

c.1563G>T; p.L521L; 16:50320712-50320712

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.274C>T; p.R92*; 16:50354907-50354907

 livercarcinomaSubstitution - Nonsense

c.1843A>G; p.M615V; 16:50319944-50319944

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1381G>A; p.D461N; 16:50323649-50323649

 breastcarcinomaSubstitution - Missense

c.869C>T; p.P290L; 16:50334729-50334729

 skinmalignant_melanomaSubstitution - Missense

c.712C>T; p.Q238*; 16:50334886-50334886

 skinmalignant_melanomaSubstitution - Nonsense

c.1526G>A; p.R509H; 16:50320749-50320749

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.856G>A; p.A286T; 16:50334742-50334742

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1019T>C; p.F340S; 16:50328737-50328737

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1303G>A; p.E435K; 16:50325776-50325776

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.831_832insAG; p.D278fs*35; 16:50334766-50334767

 endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.1076C>T; p.P359L; 16:50328680-50328680

 skinmalignant_melanomaSubstitution - Missense

c.470C>G; p.S157*; 16:50350144-50350144

 livercarcinomaSubstitution - Nonsense

c.258G>T; p.K86N; 16:50368090-50368090

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.830_831delAG; p.E277fs*18; 16:50334767-50334768

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - Frameshift

c.830_831delAG; p.E277fs*18; 16:50334767-50334768

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.830_831delAG; p.E277fs*18; 16:50334767-50334768

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IIDeletion - Frameshift

c.830_831delAG; p.E277fs*18; 16:50334767-50334768

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.830_831delAG; p.E277fs*18; 16:50334767-50334768

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.830_831delAG; p.E277fs*18; 16:50334767-50334768

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.830_831delAG; p.E277fs*18; 16:50334767-50334768

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.941_942delAG; p.E314fs*5; 16:50333643-50333644

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.19A>G; p.K7E; 16:50368756-50368756

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.329C>T; p.P110L; 16:50354852-50354852

 skinmalignant_melanomaSubstitution - Missense

c.325G>A; p.A109T; 16:50354856-50354856

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.151G>T; p.D51Y; 16:50368197-50368197

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1400T>G; p.L467*; 16:50323630-50323630

 skinmalignant_melanomaSubstitution - Nonsense

c.632A>G; p.N211S; 16:50340046-50340046

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1346delT; p.L449fs*19; 16:50323684-50323684

 livercarcinomaDeletion - Frameshift

c.1340A>G; p.E447G; 16:50323690-50323690

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1346delT; p.L449fs*19; 16:50323684-50323684

 livercarcinomaDeletion - Frameshift

c.199A>G; p.K67E; 16:50368149-50368149

 prostatecarcinomaSubstitution - Missense

c.971A>G; p.E324G; 16:50333614-50333614

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.424C>T; p.Q142*; 16:50354447-50354447

 skinmalignant_melanomaSubstitution - Nonsense

c.1603G>C; p.D535H; 16:50320672-50320672

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1859C>T; p.P620L; 16:50319928-50319928

 skinmalignant_melanomaSubstitution - Missense

c.1859C>T; p.P620L; 16:50319928-50319928

 skinmalignant_melanomaSubstitution - Missense

c.774T>G; p.D258E; 16:50334824-50334824

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.718C>G; p.L240V; 16:50334880-50334880

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1536C>T; p.S512S; 16:50320739-50320739

 pancreascarcinoid-endocrine_tumourSubstitution - coding silent

c.1560G>T; p.A520A; 16:50320715-50320715

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.575C>T; p.S192F; 16:50350039-50350039

 skinmalignant_melanomaSubstitution - Missense

c.850G>A; p.A284T; 16:50334748-50334748

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1193C>T; p.P398L; 16:50326286-50326286

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1531G>T; p.D511Y; 16:50320744-50320744

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1652G>A; p.R551K; 16:50320352-50320352

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.108A>T; p.E36D; 16:50368240-50368240

 skinmalignant_melanomaSubstitution - Missense

c.280C>T; p.R94*; 16:50354901-50354901

 skinmalignant_melanomaSubstitution - Nonsense

c.1046C>T; p.T349M; 16:50328710-50328710

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.325G>T; p.A109S; 16:50354856-50354856

 breastcarcinomaSubstitution - Missense

c.1757-1_1768delGCTGAACAAGTGA; p.?; 16:50320019-50320031

 livercarcinoma; hepatocellular_carcinomaUnknown

c.682G>C; p.G228R; 16:50339996-50339996

 breastcarcinomaSubstitution - Missense

c.130C>A; p.H44N; 16:50368218-50368218

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.130C>A; p.H44N; 16:50368218-50368218

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.994C>T; p.R332W; 16:50333591-50333591

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.539C>T; p.T180I; 16:50350075-50350075

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1424C>T; p.T475I; 16:50323606-50323606

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1370A>T; p.Y457F; 16:50323660-50323660

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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