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

Basic Information

Gene ID

5078

Name

PAX4

Synonymous

paired box 4;PAX4;paired box 4

Definition

paired box gene 4|paired box protein Pax-4|paired domain gene 4

Position

7q32

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 0.00.

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.510C>T; p.S170S; 7:127613784-127613784

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.748-3delT; p.?; 7:127611679-127611679

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaUnknown

c.754C>T; p.P252S; 7:127611670-127611670

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.669C>G; p.L223L; 7:127613044-127613044

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.809G>T; p.C270F; 7:127611615-127611615

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.91C>G; p.R31G; 7:127615430-127615430

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.163C>T; p.R55C; 7:127615053-127615053

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.332C>T; p.P111L; 7:127614884-127614884

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.578G>A; p.G193E; 7:127613493-127613493

 skinmalignant_melanomaSubstitution - Missense

c.150A>G; p.L50L; 7:127615066-127615066

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.515G>C; p.S172T; 7:127613779-127613779

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.796C>T; p.L266L; 7:127611628-127611628

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.164G>A; p.R55H; 7:127615052-127615052

 central_nervous_system; braingliomaSubstitution - Missense

c.164G>A; p.R55H; 7:127615052-127615052

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.289C>T; p.R97C; 7:127614927-127614927

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.344C>A; p.S115Y; 7:127614550-127614550

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.474C>T; p.H158H; 7:127613820-127613820

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.950C>T; p.S317F; 7:127611146-127611146

 skinmalignant_melanomaSubstitution - Missense

c.473A>C; p.H158P; 7:127613821-127613821

 pancreascarcinomaSubstitution - Missense

c.681G>T; p.M227I; 7:127613032-127613032

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.475C>T; p.P159S; 7:127613819-127613819

 skinmalignant_melanomaSubstitution - Missense

c.171T>G; p.G57G; 7:127615045-127615045

 breastcarcinomaSubstitution - coding silent

c.868G>C; p.A290P; 7:127611556-127611556

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.868G>C; p.A290P; 7:127611556-127611556

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.652C>T; p.R218C; 7:127613061-127613061

 oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.496C>T; p.R166W; 7:127613798-127613798

 pancreascarcinomaSubstitution - Missense

c.111G>A; p.R37R; 7:127615410-127615410

 skinmalignant_melanomaSubstitution - coding silent

c.652C>T; p.R218C; 7:127613061-127613061

 prostatecarcinomaSubstitution - Missense

c.280G>A; p.E94K; 7:127614936-127614936

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.197G>A; p.G66E; 7:127615019-127615019

 NSmalignant_melanomaSubstitution - Missense

c.197G>A; p.G66E; 7:127615019-127615019

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.559C>T; p.P187S; 7:127613512-127613512

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.197G>A; p.G66E; 7:127615019-127615019

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.56G>A; p.R19Q; 7:127615465-127615465

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.898C>T; p.P300S; 7:127611198-127611198

 central_nervous_system; braingliomaSubstitution - Missense

c.15G>A; p.G5G; 7:127615506-127615506

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.337-5C>T; p.?; 7:127614562-127614562

 skin; trunkmalignant_melanoma; nodularUnknown

c.431T>C; p.V144A; 7:127613863-127613863

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.224C>G; p.P75R; 7:127614992-127614992

 central_nervous_system; braingliomaSubstitution - Missense

c.824G>A; p.W275*; 7:127611600-127611600

 skinmalignant_melanomaSubstitution - Nonsense

c.490C>T; p.R164W; 7:127613804-127613804

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.980G>A; p.G327D; 7:127611116-127611116

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.682C>G; p.Q228E; 7:127613031-127613031

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.700C>A; p.Q234K; 7:127611992-127611992

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.725C>A; p.A242D; 7:127611967-127611967

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.786C>T; p.A262A; 7:127611638-127611638

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.440C>T; p.P147L; 7:127613854-127613854

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.223C>T; p.P75S; 7:127614993-127614993

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.931C>A; p.L311I; 7:127611165-127611165

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.668T>A; p.L223H; 7:127613045-127613045

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.620G>A; p.R207K; 7:127613451-127613451

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.538G>A; p.E180K; 7:127613756-127613756

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3G>T; p.M1I; 7:127615518-127615518

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.695C>A; p.A232D; 7:127611997-127611997

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.773C>A; p.A258E; 7:127611651-127611651

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.559C>A; p.P187T; 7:127613512-127613512

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.358C>A; p.L120M; 7:127614536-127614536

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.809G>C; p.C270S; 7:127611615-127611615

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.943T>A; p.C315S; 7:127611153-127611153

 skinmalignant_melanomaSubstitution - Missense

c.849G>A; p.L283L; 7:127611575-127611575

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.849G>A; p.L283L; 7:127611575-127611575

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.462C>T; p.P154P; 7:127613832-127613832

 skinmalignant_melanomaSubstitution - coding silent

c.657G>T; p.R219R; 7:127613056-127613056

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.447T>A; p.S149R; 7:127613847-127613847

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.656G>A; p.R219Q; 7:127613057-127613057

 large_intestine; colonadenomaSubstitution - Missense

c.660A>G; p.Q220Q; 7:127613053-127613053

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.492G>T; p.R164R; 7:127613802-127613802

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.70C>T; p.R24W; 7:127615451-127615451

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.543C>T; p.F181F; 7:127613528-127613528

 skinmalignant_melanomaSubstitution - coding silent

c.573C>A; p.A191A; 7:127613498-127613498

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.887G>C; p.W296S; 7:127611537-127611537

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.638G>A; p.R213K; 7:127613075-127613075

 skinmalignant_melanomaSubstitution - Missense

c.225T>A; p.P75P; 7:127614991-127614991

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.109C>T; p.R37W; 7:127615412-127615412

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.616G>A; p.V206M; 7:127613455-127613455

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.407C>A; p.S136*; 7:127614487-127614487

 skinmalignant_melanomaSubstitution - Nonsense

c.788T>C; p.L263P; 7:127611636-127611636

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.399G>A; p.R133R; 7:127614495-127614495

 skinmalignant_melanomaSubstitution - coding silent

c.788T>C; p.L263P; 7:127611636-127611636

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.663G>A; p.E221E; 7:127613050-127613050

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.643G>A; p.A215T; 7:127613070-127613070

 skinmalignant_melanomaSubstitution - Missense

c.413-3C>T; p.?; 7:127613884-127613884

 stomachadenocarcinomaUnknown

c.484G>A; p.G162S; 7:127613810-127613810

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.465G>T; p.R155R; 7:127613829-127613829

 breastcarcinomaSubstitution - coding silent

c.91C>T; p.R31W; 7:127615430-127615430

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.39C>A; p.P13P; 7:127615482-127615482

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.91C>T; p.R31W; 7:127615430-127615430

 ovaryother; neoplasmSubstitution - Missense

c.91C>T; p.R31W; 7:127615430-127615430

 central_nervous_system; braingliomaSubstitution - Missense

c.73C>A; p.L25I; 7:127615448-127615448

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.668T>C; p.L223P; 7:127613045-127613045

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.748-3delT; p.?; 7:127611679-127611679

 central_nervous_system; temporoparietalglioma; astrocytoma_Grade_IIUnknown

c.323A>G; p.D108G; 7:127614893-127614893

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.909G>A; p.P303P; 7:127611187-127611187

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.348C>T; p.I116I; 7:127614546-127614546

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.637A>G; p.R213G; 7:127613076-127613076

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.724G>T; p.A242S; 7:127611968-127611968

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.507C>T; p.F169F; 7:127613787-127613787

 skinmalignant_melanomaSubstitution - coding silent

c.512C>A; p.P171Q; 7:127613782-127613782

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.843G>A; p.R281R; 7:127611581-127611581

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.10C>A; p.L4I; 7:127615511-127615511

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.550G>T; p.G184W; 7:127613521-127613521

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.575G>A; p.R192H; 7:127613496-127613496

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.676G>A; p.E226K; 7:127613037-127613037

 skinmalignant_melanomaSubstitution - Missense

c.836C>A; p.P279Q; 7:127611588-127611588

 breastcarcinomaSubstitution - Missense

c.543C>A; p.F181L; 7:127613528-127613528

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.290G>A; p.R97H; 7:127614926-127614926

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.385C>T; p.L129L; 7:127614509-127614509

 skinmalignant_melanomaSubstitution - coding silent

c.290G>A; p.R97H; 7:127614926-127614926

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.758G>T; p.G253V; 7:127611666-127611666

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.748-3_748-2insT; p.?; 7:127611678-127611679

 stomachcarcinoma; diffuse_adenocarcinomaUnknown

c.748-3_748-2insT; p.?; 7:127611678-127611679

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaUnknown

c.390G>A; p.P130P; 7:127614504-127614504

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.283A>G; p.I95V; 7:127614933-127614933

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.319C>A; p.Q107K; 7:127614897-127614897

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.497G>T; p.R166L; 7:127613797-127613797

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.658C>G; p.Q220E; 7:127613055-127613055

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.10C>T; p.L4F; 7:127615511-127615511

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.199A>T; p.S67C; 7:127615017-127615017

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.940C>T; p.P314S; 7:127611156-127611156

 skinmalignant_melanomaSubstitution - Missense

c.821G>A; p.C274Y; 7:127611603-127611603

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.715C>A; p.P239T; 7:127611977-127611977

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.190A>T; p.I64F; 7:127615026-127615026

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.587C>G; p.A196G; 7:127613484-127613484

 skinmalignant_melanomaSubstitution - Missense

c.1014A>T; p.L338L; 7:127611082-127611082

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.574C>G; p.R192G; 7:127613497-127613497

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.915C>T; p.S305S; 7:127611181-127611181

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.141C>A; p.S47R; 7:127615075-127615075

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.901C>A; p.P301T; 7:127611195-127611195

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.857C>T; p.T286I; 7:127611567-127611567

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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