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

Basic Information

Gene ID

7161

Name

TP73

Synonymous

tumor protein p73;TP73;tumor protein p73

Definition

p53-like transcription factor|p53-related protein

Position

1p36.3

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

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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 0.18.

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.1772G>A; p.R591H; 1:3732940-3732940

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1830G>A; p.A610A; 1:3732998-3732998

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1450C>T; p.P484S; 1:3731031-3731031

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.604G>A; p.D202N; 1:3722195-3722195

 skinmalignant_melanomaSubstitution - Missense

c.1236G>A; p.S412S; 1:3730039-3730039

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.444G>C; p.L148F; 1:3722035-3722035

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.930G>A; p.R310R; 1:3727715-3727715

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.318C>T; p.F106F; 1:3707680-3707680

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1554C>T; p.Y518Y; 1:3731532-3731532

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.843-9A>C; p.?; 1:3727619-3727619

 ovaryother; neoplasmUnknown

c.397C>A; p.Q133K; 1:3707759-3707759

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1832A>G; p.D611G; 1:3733000-3733000

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.35G>A; p.G12D; 1:3682400-3682400

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.399G>T; p.Q133H; 1:3707761-3707761

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.314C>T; p.T105I; 1:3707676-3707676

 thyroidcarcinomaSubstitution - Missense

c.332C>T; p.P111L; 1:3707694-3707694

 prostatecarcinomaSubstitution - Missense

c.886G>A; p.A296T; 1:3727671-3727671

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1196+1delG; p.?; 1:3729449-3729449

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.101C>T; p.S34L; 1:3683095-3683095

 breastcarcinomaSubstitution - Missense

c.1303C>T; p.P435S; 1:3730106-3730106

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1061C>T; p.T354M; 1:3728204-3728204

 skinmalignant_melanomaSubstitution - Missense

c.119A>G; p.E40G; 1:3683113-3683113

 thyroidcarcinomaSubstitution - Missense

c.515G>T; p.G172V; 1:3722106-3722106

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1518C>G; p.I506M; 1:3731496-3731496

 skinmalignant_melanomaSubstitution - Missense

c.790G>T; p.G264W; 1:3727172-3727172

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1215G>A; p.P405P; 1:3730018-3730018

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1215G>A; p.P405P; 1:3730018-3730018

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1215G>A; p.P405P; 1:3730018-3730018

 pancreascarcinomaSubstitution - coding silent

c.652G>A; p.E218K; 1:3723389-3723389

 skinmalignant_melanomaSubstitution - Missense

c.689T>A; p.V230D; 1:3723426-3723426

 skinmalignant_melanomaSubstitution - Missense

c.1172A>G; p.Q391R; 1:3729424-3729424

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1172A>G; p.Q391R; 1:3729424-3729424

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1172A>G; p.Q391R; 1:3729424-3729424

 large_intestine; coloncarcinomaSubstitution - Missense

c.1172A>G; p.Q391R; 1:3729424-3729424

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1172A>G; p.Q391R; 1:3729424-3729424

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1009G>A; p.V337I; 1:3728152-3728152

 oesophaguscarcinomaSubstitution - Missense

c.1009G>A; p.V337I; 1:3728152-3728152

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.552G>A; p.A184A; 1:3722143-3722143

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.613G>T; p.E205*; 1:3722204-3722204

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.702G>A; p.Q234Q; 1:3723439-3723439

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1119G>T; p.E373D; 1:3729371-3729371

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1485-1_1485insT; p.L497fs*30; 1:3731462-3731463

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.880A>C; p.I294L; 1:3727665-3727665

 livercarcinomaSubstitution - Missense

c.510C>T; p.P170P; 1:3722101-3722101

 skinmalignant_melanomaSubstitution - coding silent

c.235G>A; p.A79T; 1:3707597-3707597

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1078C>T; p.R360*; 1:3729330-3729330

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.225G>A; p.M75I; 1:3707587-3707587

 thyroidcarcinomaSubstitution - Missense

c.186+6T>G; p.?; 1:3683186-3683186

 pancreascarcinomaUnknown

c.236C>T; p.A79V; 1:3707598-3707598

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1736G>A; p.R579H; 1:3732904-3732904

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.330G>A; p.S110S; 1:3707692-3707692

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.397C>T; p.Q133*; 1:3707759-3707759

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.603G>A; p.R201R; 1:3722194-3722194

 skinmalignant_melanomaSubstitution - coding silent

c.603G>A; p.R201R; 1:3722194-3722194

 skinmalignant_melanomaSubstitution - coding silent

c.1170_1172delGCA; p.Q394delQ; 1:3729422-3729424

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - In frame

c.725C>T; p.P242L; 1:3723462-3723462

 pancreascarcinomaSubstitution - Missense

c.135G>A; p.T45T; 1:3683129-3683129

 skinmalignant_melanomaSubstitution - coding silent

c.135G>A; p.T45T; 1:3683129-3683129

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.179C>G; p.S60C; 1:3683173-3683173

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.115A>G; p.N39D; 1:3683109-3683109

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1389C>T; p.N463N; 1:3730970-3730970

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1842C>T; p.F614F; 1:3733010-3733010

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1771C>T; p.R591C; 1:3732939-3732939

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1453delC; p.Y487fs*11; 1:3731034-3731034

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1255delG; p.G420fs*2; 1:3730058-3730058

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1586G>C; p.G529A; 1:3732754-3732754

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.866C>T; p.S289F; 1:3727651-3727651

 skinmalignant_melanomaSubstitution - Missense

c.311C>T; p.S104F; 1:3707673-3707673

 breastcarcinomaSubstitution - Missense

c.1174_1175delCA; p.Q392fs*134; 1:3729426-3729427

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.647G>T; p.R216L; 1:3723384-3723384

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1710C>T; p.S570S; 1:3732878-3732878

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1316C>T; p.S439L; 1:3730119-3730119

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.146T>C; p.M49T; 1:3683140-3683140

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.163G>A; p.E55K; 1:3683157-3683157

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.571G>A; p.V191M; 1:3722162-3722162

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.187-6C>T; p.?; 1:3707543-3707543

 oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.882C>T; p.I294I; 1:3727667-3727667

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1683C>T; p.L561L; 1:3732851-3732851

 skinmalignant_melanomaSubstitution - coding silent

c.358G>A; p.D120N; 1:3707720-3707720

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1684C>T; p.R562C; 1:3732852-3732852

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1684C>T; p.R562C; 1:3732852-3732852

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1392C>T; p.G464G; 1:3730973-3730973

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.521C>G; p.A174G; 1:3722112-3722112

 stomachadenocarcinomaSubstitution - Missense

c.1432G>A; p.G478R; 1:3731013-3731013

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1741C>T; p.R581W; 1:3732909-3732909

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.519C>T; p.T173T; 1:3722110-3722110

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.376C>T; p.H126Y; 1:3707738-3707738

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1502G>T; p.G501V; 1:3731480-3731480

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.584C>T; p.P195L; 1:3722175-3722175

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.584C>T; p.P195L; 1:3722175-3722175

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.584C>T; p.P195L; 1:3722175-3722175

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.694G>A; p.G232S; 1:3723431-3723431

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.436C>T; p.P146S; 1:3722027-3722027

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1452_1453insC; p.Y487fs*40; 1:3731033-3731034

 skin; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.1254C>T; p.H418H; 1:3730057-3730057

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1146G>A; p.P382P; 1:3729398-3729398

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.567C>T; p.D189D; 1:3722158-3722158

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.999delC; p.P335fs*10; 1:3728142-3728142

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.999delC; p.P335fs*10; 1:3728142-3728142

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1194G>A; p.R398R; 1:3729446-3729446

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.444_446delGAA; p.K150delK; 1:3722035-3722037

 central_nervous_system; parietal_lobeglioma; ependymomaDeletion - In frame

c.307A>G; p.S103G; 1:3707669-3707669

 skinmalignant_melanomaSubstitution - Missense

c.1053C>T; p.D351D; 1:3728196-3728196

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1467C>T; p.A489A; 1:3731048-3731048

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1414G>A; p.A472T; 1:3730995-3730995

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.708C>T; p.V236V; 1:3723445-3723445

 skinmalignant_melanomaSubstitution - coding silent

c.1227G>A; p.P409P; 1:3730030-3730030

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.89A>C; p.D30A; 1:3683083-3683083

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.266A>C; p.H89P; 1:3707628-3707628

 skin; neckmalignant_melanomaSubstitution - Missense

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