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

Basic Information

Gene ID

580

Name

BARD1

Synonymous

BRCA1 associated RING domain 1;BARD1;BRCA1 associated RING domain 1

Definition

BRCA1-associated RING domain gene 1|BRCA1-associated RING domain protein 1

Position

2q35

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 0.18.

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.589A>T; p.K197*; 2:214781285-214781285

 livercarcinomaSubstitution - Nonsense

c.589A>T; p.K197*; 2:214781285-214781285

 livercarcinomaSubstitution - Nonsense

c.1568+10T>G; p.?; 2:214767472-214767472

 stomachadenocarcinomaUnknown

c.716T>G; p.L239R; 2:214781158-214781158

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.970C>A; p.H324N; 2:214780904-214780904

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.487G>A; p.V163M; 2:214781387-214781387

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.245G>T; p.G82V; 2:214792416-214792416

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.276A>G; p.I92M; 2:214792385-214792385

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.989G>T; p.S330I; 2:214780885-214780885

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1995A>T; p.E665D; 2:214730417-214730417

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2230A>G; p.N744D; 2:214728780-214728780

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1806T>C; p.S602S; 2:214745726-214745726

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1053G>C; p.T351T; 2:214780821-214780821

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1053G>C; p.T351T; 2:214780821-214780821

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1788A>G; p.K596K; 2:214745744-214745744

 pancreascarcinomaSubstitution - coding silent

c.754C>T; p.P252S; 2:214781120-214781120

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.490C>T; p.Q164*; 2:214781384-214781384

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1466C>T; p.T489I; 2:214767584-214767584

 NSmalignant_melanomaSubstitution - Missense

c.846G>T; p.L282F; 2:214781028-214781028

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1805G>T; p.S602I; 2:214745727-214745727

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1323A>G; p.I441M; 2:214769304-214769304

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1567G>A; p.V523I; 2:214767483-214767483

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1791T>C; p.Y597Y; 2:214745741-214745741

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1949A>C; p.K650T; 2:214730463-214730463

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.489G>A; p.V163V; 2:214781385-214781385

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1232C>A; p.P411H; 2:214780642-214780642

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1816C>G; p.H606D; 2:214745154-214745154

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.547G>C; p.V183L; 2:214781327-214781327

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.557G>A; p.S186N; 2:214781317-214781317

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.605C>G; p.S202C; 2:214781269-214781269

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1886G>A; p.W629*; 2:214745084-214745084

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.825_829delAACTG; p.T276fs*7; 2:214781045-214781049

 prostatecarcinomaDeletion - Frameshift

c.709C>G; p.Q237E; 2:214781165-214781165

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.747C>T; p.I249I; 2:214781127-214781127

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.62G>T; p.R21L; 2:214809508-214809508

 skinmalignant_melanomaSubstitution - Missense

c.521G>T; p.S174I; 2:214781353-214781353

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.267G>A; p.P89P; 2:214792394-214792394

 breastcarcinomaSubstitution - coding silent

c.1217G>A; p.R406Q; 2:214780657-214780657

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1134G>C; p.R378S; 2:214780740-214780740

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1134G>C; p.R378S; 2:214780740-214780740

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1134G>C; p.R378S; 2:214780740-214780740

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2039G>A; p.W680*; 2:214728971-214728971

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.365-1G>A; p.?; 2:214781510-214781510

 NSNSUnknown

c.1242G>T; p.M414I; 2:214780632-214780632

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.599C>T; p.A200V; 2:214781275-214781275

 kidneyother; neoplasmSubstitution - Missense

c.312G>C; p.M104I; 2:214792349-214792349

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1304C>T; p.A435V; 2:214780570-214780570

 skinmalignant_melanomaSubstitution - Missense

c.456G>A; p.K152K; 2:214781418-214781418

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.914A>C; p.K305T; 2:214780960-214780960

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1339C>T; p.L447F; 2:214769288-214769288

 skinmalignant_melanomaSubstitution - Missense

c.2037G>T; p.L679F; 2:214728973-214728973

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1674A>T; p.S558S; 2:214752450-214752450

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.841C>T; p.P281S; 2:214781033-214781033

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.158+1G>A; p.?; 2:214809411-214809411

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1139A>C; p.N380T; 2:214780735-214780735

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1032T>G; p.S344R; 2:214780842-214780842

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6G>A; p.P2P; 2:214809564-214809564

 livercarcinomaSubstitution - coding silent

c.1873C>A; p.L625I; 2:214745097-214745097

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1922G>A; p.R641Q; 2:214730490-214730490

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1366G>A; p.V456I; 2:214769261-214769261

 prostatecarcinomaSubstitution - Missense

c.70C>T; p.P24S; 2:214809500-214809500

 breastcarcinomaSubstitution - Missense

c.70C>T; p.P24S; 2:214809500-214809500

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2258G>A; p.G753D; 2:214728752-214728752

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.70C>T; p.P24S; 2:214809500-214809500

 breastcarcinomaSubstitution - Missense

c.70C>T; p.P24S; 2:214809500-214809500

 thyroidother; neoplasmSubstitution - Missense

c.1980C>G; p.S660R; 2:214730432-214730432

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.420G>T; p.K140N; 2:214781454-214781454

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.484T>G; p.S162A; 2:214781390-214781390

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.484T>G; p.S162A; 2:214781390-214781390

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.420G>T; p.K140N; 2:214781454-214781454

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.425C>A; p.S142*; 2:214781449-214781449

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1843C>G; p.Q615E; 2:214745127-214745127

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.900T>C; p.P300P; 2:214780974-214780974

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.859G>T; p.E287*; 2:214781015-214781015

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2170G>A; p.A724T; 2:214728840-214728840

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1519G>A; p.V507M; 2:214767531-214767531

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1519G>A; p.V507M; 2:214767531-214767531

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1519G>A; p.V507M; 2:214767531-214767531

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2170G>A; p.A724T; 2:214728840-214728840

 large_intestine; coloncarcinomaSubstitution - Missense

c.623_624insA; p.K209fs*5; 2:214781250-214781251

 oesophagus; lower_thirdcarcinoma; adenocarcinomaInsertion - Frameshift

c.1373A>T; p.D458V; 2:214769254-214769254

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.692C>G; p.S231C; 2:214781182-214781182

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1490C>T; p.P497L; 2:214767560-214767560

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1549G>A; p.G517R; 2:214767501-214767501

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1315-2A>C; p.?; 2:214769314-214769314

 lungcarcinoma; adenocarcinomaUnknown

c.253G>A; p.V85M; 2:214792408-214792408

 breastcarcinomaSubstitution - Missense

c.334C>T; p.R112*; 2:214792327-214792327

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1237G>A; p.A413T; 2:214780637-214780637

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.965G>A; p.R322H; 2:214780909-214780909

 pituitary; craniopharyngeal_ductcraniopharyngioma; adamantinomatousSubstitution - Missense

c.1804A>T; p.S602C; 2:214745728-214745728

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1165A>C; p.S389R; 2:214780709-214780709

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.265C>G; p.P89A; 2:214792396-214792396

 pancreascarcinomaSubstitution - Missense

c.265C>G; p.P89A; 2:214792396-214792396

 pancreascarcinoid-endocrine_tumourSubstitution - Missense

c.2025C>T; p.C675C; 2:214728985-214728985

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2074A>T; p.I692F; 2:214728936-214728936

 livercarcinomaSubstitution - Missense

c.2074A>T; p.I692F; 2:214728936-214728936

 livercarcinomaSubstitution - Missense

c.61C>T; p.R21C; 2:214809509-214809509

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1468A>C; p.T490P; 2:214767582-214767582

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2001G>T; p.L667L; 2:214730411-214730411

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1837delG; p.A613fs*6; 2:214745133-214745133

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.422A>C; p.N141T; 2:214781452-214781452

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1755C>T; p.L585L; 2:214745777-214745777

 breastcarcinomaSubstitution - coding silent

c.1071_1091del21; p.L359_P365delLPECSSP; 2:214780783-214780803

 lungcarcinomaDeletion - In frame

c.1071_1091del21; p.L359_P365delLPECSSP; 2:214780783-214780803

 large_intestine; coloncarcinomaDeletion - In frame

c.2179G>A; p.D727N; 2:214728831-214728831

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1317C>T; p.G439G; 2:214769310-214769310

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.1317C>T; p.G439G; 2:214769310-214769310

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1317C>T; p.G439G; 2:214769310-214769310

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.893T>C; p.V298A; 2:214780981-214780981

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2082C>T; p.L694L; 2:214728928-214728928

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1841T>C; p.V614A; 2:214745129-214745129

 skinmalignant_melanomaSubstitution - Missense

c.502G>A; p.A168T; 2:214781372-214781372

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.2119C>T; p.P707S; 2:214728891-214728891

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.502G>A; p.A168T; 2:214781372-214781372

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1415G>A; p.G472E; 2:214767635-214767635

 pancreascarcinomaSubstitution - Missense

c.1811-10delT; p.?; 2:214745169-214745169

 thyroidcarcinoma; anaplastic_carcinomaUnknown

c.2021G>T; p.G674V; 2:214728989-214728989

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1721G>A; p.G574D; 2:214745811-214745811

 central_nervous_system; braingliomaSubstitution - Missense

c.568G>T; p.D190Y; 2:214781306-214781306

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.523G>C; p.A175P; 2:214781351-214781351

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1995A>G; p.E665E; 2:214730417-214730417

 prostatecarcinomaSubstitution - coding silent

c.1123A>G; p.T375A; 2:214780751-214780751

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.623delA; p.K208fs*4; 2:214781251-214781251

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.623delA; p.K208fs*4; 2:214781251-214781251

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1056G>A; p.V352V; 2:214780818-214780818

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1439T>C; p.L480S; 2:214767611-214767611

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.265C>T; p.P89S; 2:214792396-214792396

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2224T>G; p.L742V; 2:214728786-214728786

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1727G>T; p.G576V; 2:214745805-214745805

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1378G>A; p.A460T; 2:214769249-214769249

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1356T>G; p.S452R; 2:214769271-214769271

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.738A>G; p.P246P; 2:214781136-214781136

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1972C>T; p.R658C; 2:214730440-214730440

 pancreascarcinomaSubstitution - Missense

c.1543T>G; p.S515A; 2:214767507-214767507

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2253G>A; p.R751R; 2:214728757-214728757

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

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