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

Basic Information

Gene ID

7980

Name

TFPI2

Synonymous

tissue factor pathway inhibitor 2;TFPI2;tissue factor pathway inhibitor 2

Definition

placental protein 5|retinal pigment epithelium cell factor 1

Position

7q22

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 0.03.

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.395G>A; p.R132Q; 7:93889100-93889100

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.395G>A; p.R132Q; 7:93889100-93889100

 prostateadenomaSubstitution - Missense

c.239A>G; p.E80G; 7:93890169-93890169

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.66C>T; p.G22G; 7:93890613-93890613

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.411C>G; p.N137K; 7:93889084-93889084

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.408G>T; p.E136D; 7:93889087-93889087

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.54G>A; p.E18E; 7:93890625-93890625

 skinmalignant_melanomaSubstitution - coding silent

c.274G>C; p.V92L; 7:93889221-93889221

 livercarcinomaSubstitution - Missense

c.473G>A; p.C158Y; 7:93887419-93887419

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.375C>A; p.F125L; 7:93889120-93889120

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.183C>T; p.C61C; 7:93890225-93890225

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.127G>A; p.G43R; 7:93890281-93890281

 livercarcinomaSubstitution - Missense

c.127G>A; p.G43R; 7:93890281-93890281

 livercarcinomaSubstitution - Missense

c.689T>A; p.I230N; 7:93886839-93886839

 thyroidother; neoplasmSubstitution - Missense

c.530A>G; p.N177S; 7:93887362-93887362

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.530A>G; p.N177S; 7:93887362-93887362

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.235T>C; p.W79R; 7:93890173-93890173

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.147T>A; p.L49L; 7:93890261-93890261

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.419C>T; p.P140L; 7:93889076-93889076

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.217G>A; p.A73T; 7:93890191-93890191

 large_intestine; colonNSSubstitution - Missense

c.385G>A; p.G129R; 7:93889110-93889110

 oesophaguscarcinomaSubstitution - Missense

c.10G>T; p.A4S; 7:93890669-93890669

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.325T>A; p.S109T; 7:93889170-93889170

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.325T>A; p.S109T; 7:93889170-93889170

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.571T>G; p.C191G; 7:93887321-93887321

 breastcarcinomaSubstitution - Missense

c.182G>T; p.C61F; 7:93890226-93890226

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - Missense

c.698A>C; p.K233T; 7:93886830-93886830

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.271+1G>T; p.?; 7:93890136-93890136

 thyroidcarcinomaUnknown

c.264G>A; p.R88R; 7:93890144-93890144

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.524A>G; p.Y175C; 7:93887368-93887368

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.382G>A; p.G128S; 7:93889113-93889113

 breastcarcinomaSubstitution - Missense

c.114G>A; p.L38L; 7:93890294-93890294

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.184C>T; p.R62C; 7:93890224-93890224

 breastcarcinomaSubstitution - Missense

c.322G>T; p.G108W; 7:93889173-93889173

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.290G>A; p.R97Q; 7:93889205-93889205

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.263G>A; p.R88K; 7:93890145-93890145

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.14G>A; p.R5H; 7:93890665-93890665

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.400C>T; p.R134W; 7:93889095-93889095

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.170A>G; p.Y57C; 7:93890238-93890238

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.692G>A; p.R231Q; 7:93886836-93886836

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.692G>A; p.R231Q; 7:93886836-93886836

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.692G>A; p.R231Q; 7:93886836-93886836

 skinmalignant_melanomaSubstitution - Missense

c.555T>C; p.A185A; 7:93887337-93887337

 pancreascarcinomaSubstitution - coding silent

c.555T>C; p.A185A; 7:93887337-93887337

 pancreascarcinomaSubstitution - coding silent

c.288C>T; p.C96C; 7:93889207-93889207

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.553G>T; p.A185S; 7:93887339-93887339

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.616C>T; p.R206C; 7:93887276-93887276

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.616C>T; p.R206C; 7:93887276-93887276

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.616C>T; p.R206C; 7:93887276-93887276

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.188A>G; p.Q63R; 7:93890220-93890220

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.691C>T; p.R231W; 7:93886837-93886837

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.691C>T; p.R231W; 7:93886837-93886837

 skinmalignant_melanomaSubstitution - Missense

c.691C>T; p.R231W; 7:93886837-93886837

 skinmalignant_melanomaSubstitution - Missense

c.182G>A; p.C61Y; 7:93890226-93890226

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.636G>A; p.L212L; 7:93886892-93886892

 skinmalignant_melanomaSubstitution - coding silent

c.97G>A; p.A33T; 7:93890311-93890311

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.97G>A; p.A33T; 7:93890311-93890311

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.85A>C; p.T29P; 7:93890594-93890594

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.381C>T; p.S127S; 7:93889114-93889114

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.381C>T; p.S127S; 7:93889114-93889114

 skinmalignant_melanomaSubstitution - coding silent

c.578G>A; p.G193E; 7:93887314-93887314

 skinmalignant_melanomaSubstitution - Missense

c.460+10A>G; p.?; 7:93889025-93889025

 livercarcinomaUnknown

c.98C>T; p.A33V; 7:93890310-93890310

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.98C>T; p.A33V; 7:93890310-93890310

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.98C>T; p.A33V; 7:93890310-93890310

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.517C>T; p.R173C; 7:93887375-93887375

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.471T>G; p.F157L; 7:93887421-93887421

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.309C>G; p.D103E; 7:93889186-93889186

 pancreasNSSubstitution - Missense

c.196T>C; p.Y66H; 7:93890212-93890212

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.387delG; p.C130fs*42; 7:93889108-93889108

 breastcarcinomaDeletion - Frameshift

c.195G>T; p.L65L; 7:93890213-93890213

 breastcarcinomaSubstitution - coding silent

c.699G>A; p.K233K; 7:93886829-93886829

 breastcarcinomaSubstitution - coding silent

c.336G>T; p.K112N; 7:93889159-93889159

 livercarcinomaSubstitution - Missense

c.198C>T; p.Y66Y; 7:93890210-93890210

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.682C>T; p.R228W; 7:93886846-93886846

 skinmalignant_melanomaSubstitution - Missense

c.624T>G; p.C208W; 7:93887268-93887268

 skinmalignant_melanomaSubstitution - Missense

c.665G>A; p.R222H; 7:93886863-93886863

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.665G>A; p.R222H; 7:93886863-93886863

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.257G>A; p.C86Y; 7:93890151-93890151

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.665G>A; p.R222H; 7:93886863-93886863

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.216C>T; p.N72N; 7:93890192-93890192

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.136C>T; p.R46W; 7:93890272-93890272

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.102G>A; p.E34E; 7:93890306-93890306

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.664C>T; p.R222C; 7:93886864-93886864

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.664C>T; p.R222C; 7:93886864-93886864

 skinmalignant_melanomaSubstitution - Missense

c.664C>T; p.R222C; 7:93886864-93886864

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.338A>G; p.Y113C; 7:93889157-93889157

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.683G>A; p.R228Q; 7:93886845-93886845

 oesophaguscarcinomaSubstitution - Missense

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