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

Basic Information

Gene ID

6929

Name

TCF3

Synonymous

transcription factor 3;TCF3;transcription factor 3

Definition

VDR interacting repressor|class B basic helix-loop-helix protein 21|helix-loop-helix protein HE47|immunoglobulin transcription factor 1|kappa-E2-binding factor|negative vitamin D response element-binding protein|transcription factor 3 (E2A immunoglobulin

Position

19p13.3

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

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 0.12.

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.1068delC; p.V357fs*37; 19:1620993-1620993

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1068delC; p.V357fs*37; 19:1620993-1620993

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.654T>A; p.D218E; 19:1622222-1622222

 breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.1290C>T; p.T430T; 19:1619352-1619352

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.855T>C; p.G285G; 19:1621938-1621938

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1631C>T; p.A544V; 19:1615476-1615476

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.500-1G>A; p.?; 19:1624001-1624001

 skinmalignant_melanomaUnknown

c.12G>T; p.P4P; 19:1650237-1650237

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1422C>T; p.D474D; 19:1619139-1619139

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1791G>A; p.S597S; 19:1615316-1615316

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1619delC; p.P540fs*61; 19:1615488-1615488

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1721G>A; p.R574H; 19:1615386-1615386

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1619delC; p.P540fs*61; 19:1615488-1615488

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1236C>T; p.A412A; 19:1619406-1619406

 skinmalignant_melanomaSubstitution - coding silent

c.1236C>T; p.A412A; 19:1619406-1619406

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1633G>A; p.E545K; 19:1615474-1615474

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.955+2_955+3insG; p.?; 19:1621835-1621836

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.59T>G; p.L20R; 19:1650190-1650190

 ovaryother; neoplasmSubstitution - Missense

c.479G>T; p.R160I; 19:1625596-1625596

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1111C>T; p.R371*; 19:1619836-1619836

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.135C>T; p.F45F; 19:1646365-1646365

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.503C>T; p.T168M; 19:1623997-1623997

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.503C>T; p.T168M; 19:1623997-1623997

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1837C>T; p.P613S; 19:1611835-1611835

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1898C>T; p.P633L; 19:1611774-1611774

 ovaryother; neoplasmSubstitution - Missense

c.23C>T; p.A8V; 19:1650226-1650226

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.359T>C; p.L120P; 19:1627366-1627366

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1450+1G>A; p.?; 19:1619110-1619110

 stomachcarcinoma; adenocarcinomaUnknown

c.1563G>C; p.L521L; 19:1615709-1615709

 breastcarcinomaSubstitution - coding silent

c.1308C>T; p.G436G; 19:1619334-1619334

 thyroidother; neoplasmSubstitution - coding silent

c.1308C>T; p.G436G; 19:1619334-1619334

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1308C>T; p.G436G; 19:1619334-1619334

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1308C>T; p.G436G; 19:1619334-1619334

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1823-8C>T; p.?; 19:1611857-1611857

 livercarcinoma; hepatocellular_carcinomaUnknown

c.28G>T; p.V10L; 19:1650221-1650221

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1823-8C>T; p.?; 19:1611857-1611857

 livercarcinoma; hepatocellular_carcinomaUnknown

c.1308C>T; p.G436G; 19:1619334-1619334

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1308C>T; p.G436G; 19:1619334-1619334

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.531G>A; p.P177P; 19:1623969-1623969

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.882_884delCTC; p.S295delS; 19:1621909-1621911

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1964G>A; p.*655*; 19:1611708-1611708

 breastcarcinoma; HER-positive_carcinomaSubstitution - coding silent

c.29T>C; p.V10A; 19:1650220-1650220

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1357G>A; p.A453T; 19:1619204-1619204

 central_nervous_system; brainstemglioma; oligoastrocytoma_Grade_IIISubstitution - Missense

c.1678C>T; p.L560L; 19:1615429-1615429

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1861C>T; p.R621*; 19:1611811-1611811

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1573C>A; p.R525R; 19:1615699-1615699

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.1615C>T; p.P539S; 19:1615492-1615492

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.452C>T; p.P151L; 19:1625623-1625623

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.452C>T; p.P151L; 19:1625623-1625623

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1747G>A; p.E583K; 19:1615360-1615360

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1747G>A; p.E583K; 19:1615360-1615360

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1427C>G; p.S476C; 19:1619134-1619134

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1747G>A; p.E583K; 19:1615360-1615360

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.336G>A; p.G112G; 19:1627389-1627389

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1792G>A; p.V598I; 19:1615315-1615315

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.385G>A; p.E129K; 19:1625690-1625690

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.33C>T; p.G11G; 19:1650216-1650216

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1919C>T; p.P640L; 19:1611753-1611753

 skinmalignant_melanomaSubstitution - Missense

c.1568C>T; p.A523V; 19:1615704-1615704

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.22G>T; p.A8S; 19:1650227-1650227

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.531G>T; p.P177P; 19:1623969-1623969

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.601C>T; p.P201S; 19:1622364-1622364

 skinmalignant_melanomaSubstitution - Missense

c.315G>A; p.R105R; 19:1627410-1627410

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.936C>T; p.S312S; 19:1621857-1621857

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.496C>T; p.L166L; 19:1625579-1625579

 skinmalignant_melanomaSubstitution - coding silent

c.759C>T; p.S253S; 19:1622117-1622117

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.759C>T; p.S253S; 19:1622117-1622117

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.759C>T; p.S253S; 19:1622117-1622117

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.121G>A; p.A41T; 19:1646379-1646379

 livercarcinomaSubstitution - Missense

c.759C>T; p.S253S; 19:1622117-1622117

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.892G>T; p.G298*; 19:1621901-1621901

 thyroidother; neoplasmSubstitution - Nonsense

c.1076C>T; p.S359F; 19:1620985-1620985

 livercarcinomaSubstitution - Missense

c.1076C>T; p.S359F; 19:1620985-1620985

 livercarcinomaSubstitution - Missense

c.1669C>T; p.R557W; 19:1615438-1615438

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.541C>T; p.P181S; 19:1623959-1623959

 skinmalignant_melanomaSubstitution - Missense

c.1587-1G>A; p.?; 19:1615521-1615521

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaUnknown

c.1552A>G; p.K518E; 19:1615720-1615720

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1408G>T; p.G470C; 19:1619153-1619153

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1681C>T; p.R561W; 19:1615426-1615426

 breastcarcinomaSubstitution - Missense

c.1675C>T; p.R559W; 19:1615432-1615432

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1675C>T; p.R559W; 19:1615432-1615432

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.475C>T; p.R159W; 19:1625600-1625600

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.998G>A; p.G333D; 19:1621149-1621149

 skinmalignant_melanomaSubstitution - Missense

c.1699G>A; p.E567K; 19:1615408-1615408

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1699G>A; p.E567K; 19:1615408-1615408

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1081delC; p.Q361fs*33; 19:1620980-1620980

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.256_257delAG; p.S86fs*18; 19:1632079-1632080

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.722_723insG; p.G242fs*12; 19:1622153-1622154

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1923C>G; p.H641Q; 19:1611749-1611749

 skinmalignant_melanomaSubstitution - Missense

c.266C>T; p.S89F; 19:1632070-1632070

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1858C>T; p.R620W; 19:1611814-1611814

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1629G>A; p.K543K; 19:1615478-1615478

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1172G>C; p.S391T; 19:1619470-1619470

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1587-8C>T; p.?; 19:1615528-1615528

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1172G>C; p.S391T; 19:1619470-1619470

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1569C>A; p.A523A; 19:1615703-1615703

 skinmalignant_melanomaSubstitution - coding silent

c.764C>A; p.P255Q; 19:1622112-1622112

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.222C>T; p.T74T; 19:1632114-1632114

 skinmalignant_melanomaSubstitution - coding silent

c.1826G>A; p.R609Q; 19:1611846-1611846

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.1530G>A; p.A510A; 19:1615742-1615742

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.423G>A; p.S141S; 19:1625652-1625652

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.209A>G; p.D70G; 19:1632342-1632342

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1819C>T; p.R607*; 19:1615288-1615288

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1819C>T; p.R607*; 19:1615288-1615288

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1765C>T; p.L589L; 19:1615342-1615342

 livercarcinomaSubstitution - coding silent

c.1765C>T; p.L589L; 19:1615342-1615342

 livercarcinomaSubstitution - coding silent

c.1460G>A; p.R487Q; 19:1615812-1615812

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.1589C>G; p.P530R; 19:1615518-1615518

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1456G>T; p.G486W; 19:1615816-1615816

 thyroidother; neoplasmSubstitution - Missense

c.1472C>T; p.T491M; 19:1615800-1615800

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1687C>T; p.R563C; 19:1615420-1615420

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.314G>A; p.R105Q; 19:1627411-1627411

 thyroidcarcinomaSubstitution - Missense

c.314G>A; p.R105Q; 19:1627411-1627411

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1459C>G; p.R487G; 19:1615813-1615813

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.401G>A; p.S134N; 19:1625674-1625674

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1459C>G; p.R487G; 19:1615813-1615813

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1459C>G; p.R487G; 19:1615813-1615813

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1459C>G; p.R487G; 19:1615813-1615813

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1459C>G; p.R487G; 19:1615813-1615813

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1459C>G; p.R487G; 19:1615813-1615813

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1459C>G; p.R487G; 19:1615813-1615813

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1459C>G; p.R487G; 19:1615813-1615813

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1459C>G; p.R487G; 19:1615813-1615813

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1459C>G; p.R487G; 19:1615813-1615813

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1459C>G; p.R487G; 19:1615813-1615813

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1459C>G; p.R487G; 19:1615813-1615813

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1459C>G; p.R487G; 19:1615813-1615813

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1459C>G; p.R487G; 19:1615813-1615813

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1302A>G; p.S434S; 19:1619340-1619340

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.470C>A; p.S157Y; 19:1625605-1625605

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.319G>A; p.A107T; 19:1627406-1627406

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1820G>A; p.R607Q; 19:1615287-1615287

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.319G>A; p.A107T; 19:1627406-1627406

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1924C>G; p.P642A; 19:1611748-1611748

 skinmalignant_melanomaSubstitution - Missense

c.1570C>T; p.P524S; 19:1615702-1615702

 skinmalignant_melanomaSubstitution - Missense

c.1291_1293GGC>AGT; p.G431S; 19:1619349-1619351

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1714C>A; p.L572M; 19:1615393-1615393

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1058C>T; p.P353L; 19:1621003-1621003

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1948C>A; p.P650T; 19:1611724-1611724

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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