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

Basic Information

Gene ID

51129

Name

ANGPTL4

Synonymous

angiopoietin-like 4;ANGPTL4;angiopoietin-like 4

Definition

PPARG angiopoietin related protein|angiopoietin-related protein 4|fasting-induced adipose factor|hepatic angiopoietin-related protein|hepatic fibrinogen/angiopoietin-related protein|peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoie

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

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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 0.05.

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.407G>A; p.R136Q; 19:8366042-8366042

 skin; extremitymalignant_melanomaSubstitution - Missense

c.407G>A; p.R136Q; 19:8366042-8366042

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.407G>A; p.R136Q; 19:8366042-8366042

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.868T>C; p.S290P; 19:8371351-8371351

 skinmalignant_melanomaSubstitution - Missense

c.429G>C; p.Q143H; 19:8366064-8366064

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.429G>C; p.Q143H; 19:8366064-8366064

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.429G>C; p.Q143H; 19:8366064-8366064

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.429G>C; p.Q143H; 19:8366064-8366064

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.429G>C; p.Q143H; 19:8366064-8366064

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.429G>A; p.Q143Q; 19:8366064-8366064

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.429G>A; p.Q143Q; 19:8366064-8366064

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.675A>C; p.T225T; 19:8371069-8371069

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.1012G>T; p.D338Y; 19:8371495-8371495

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.21_22insG; p.A9fs*86; 19:8364342-8364343

 oesophaguscarcinoma; adenocarcinomaInsertion - Frameshift

c.870C>T; p.S290S; 19:8371353-8371353

 skinmalignant_melanomaSubstitution - coding silent

c.730T>C; p.Y244H; 19:8371124-8371124

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.442G>A; p.D148N; 19:8366214-8366214

 skinmalignant_melanomaSubstitution - Missense

c.1070C>G; p.S357C; 19:8373735-8373735

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.544C>T; p.H182Y; 19:8366316-8366316

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.509A>T; p.Q170L; 19:8366281-8366281

 skinmalignant_melanomaSubstitution - Missense

c.1024G>A; p.A342T; 19:8371507-8371507

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.517G>C; p.D173H; 19:8366289-8366289

 pancreascarcinomaSubstitution - Missense

c.1102C>T; p.P368S; 19:8373767-8373767

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.334C>A; p.Q112K; 19:8365969-8365969

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.1134C>G; p.I378M; 19:8373799-8373799

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.245G>T; p.G82V; 19:8364566-8364566

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.791G>A; p.S264N; 19:8371274-8371274

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.106G>T; p.A36S; 19:8364427-8364427

 livercarcinomaSubstitution - Missense

c.198G>C; p.L66L; 19:8364519-8364519

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.958A>T; p.S320C; 19:8371441-8371441

 livercarcinomaSubstitution - Missense

c.529A>C; p.N177H; 19:8366301-8366301

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.801G>A; p.G267G; 19:8371284-8371284

 skinmalignant_melanomaSubstitution - coding silent

c.797C>T; p.T266M; 19:8371280-8371280

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1167G>A; p.P389P; 19:8373832-8373832

 breastcarcinomaSubstitution - coding silent

c.629C>T; p.P210L; 19:8369300-8369300

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.960C>T; p.S320S; 19:8371443-8371443

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.607G>A; p.E203K; 19:8369278-8369278

 skinmalignant_melanomaSubstitution - Missense

c.621G>C; p.Q207H; 19:8369292-8369292

 skinmalignant_melanomaSubstitution - Missense

c.1113G>A; p.R371R; 19:8373778-8373778

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1007G>A; p.R336H; 19:8371490-8371490

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.393G>A; p.E131E; 19:8366028-8366028

 skinmalignant_melanomaSubstitution - coding silent

c.538_539insGCCT; p.H182fs*23; 19:8366310-8366311

 skinmalignant_melanomaInsertion - Frameshift

c.1112G>A; p.R371Q; 19:8373777-8373777

 oesophaguscarcinomaSubstitution - Missense

c.382C>T; p.R128W; 19:8366017-8366017

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1066C>G; p.H356D; 19:8373731-8373731

 skinmalignant_melanomaSubstitution - Missense

c.756C>T; p.H252H; 19:8371150-8371150

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; mast_cell_neoplasmSubstitution - coding silent

c.327C>G; p.L109L; 19:8365962-8365962

 breastcarcinomaSubstitution - coding silent

c.756C>T; p.H252H; 19:8371150-8371150

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasmSubstitution - coding silent

c.762G>C; p.E254D; 19:8371245-8371245

 breastcarcinomaSubstitution - Missense

c.469G>A; p.A157T; 19:8366241-8366241

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.872T>A; p.V291E; 19:8371355-8371355

 thyroidcarcinomaSubstitution - Missense

c.519C>A; p.D173E; 19:8366291-8366291

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.912C>T; p.L304L; 19:8371395-8371395

 skinmalignant_melanomaSubstitution - coding silent

c.957C>G; p.P319P; 19:8371440-8371440

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.188G>A; p.R63H; 19:8364509-8364509

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.547+1G>A; p.?; 19:8366320-8366320

 large_intestine; rectumadenomaUnknown

c.939C>T; p.G313G; 19:8371422-8371422

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.521C>T; p.P174L; 19:8366293-8366293

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.517G>A; p.D173N; 19:8366289-8366289

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.538C>T; p.R180C; 19:8366310-8366310

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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