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

Basic Information

Gene ID

5196

Name

PF4

Synonymous

platelet factor 4;PF4;platelet factor 4

Definition

C-X-C motif chemokine 4|chemokine (C-X-C motif) ligand 4|iroplact|oncostatin-A

Position

4q12-q21

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.132G>A; p.V44V; 4:73981503-73981503

 skinmalignant_melanomaSubstitution - coding silent

c.143C>A; p.S48Y; 4:73981492-73981492

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.143C>T; p.S48F; 4:73981492-73981492

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.213A>C; p.Q71H; 4:73981422-73981422

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.182T>C; p.I61T; 4:73981453-73981453

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.113A>G; p.D38G; 4:73981522-73981522

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.155C>T; p.P52L; 4:73981480-73981480

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.54G>A; p.G18G; 4:73981900-73981900

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.112G>A; p.D38N; 4:73981523-73981523

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.231G>A; p.K77K; 4:73981279-73981279

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.91G>A; p.A31T; 4:73981863-73981863

 breastcarcinomaSubstitution - Missense

c.180G>A; p.V60V; 4:73981455-73981455

 skinmalignant_melanomaSubstitution - coding silent

c.187G>T; p.A63S; 4:73981448-73981448

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.85G>A; p.A29T; 4:73981869-73981869

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.189C>T; p.A63A; 4:73981446-73981446

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.300G>C; p.E100D; 4:73981210-73981210

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.267G>A; p.P89P; 4:73981243-73981243

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.100G>A; p.E34K; 4:73981535-73981535

 NSmalignant_melanomaSubstitution - Missense

c.100G>A; p.E34K; 4:73981535-73981535

 NSmalignant_melanomaSubstitution - Missense

c.267G>A; p.P89P; 4:73981243-73981243

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.208G>A; p.A70T; 4:73981427-73981427

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.32G>A; p.R11H; 4:73981922-73981922

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.240G>A; p.R80R; 4:73981270-73981270

 skinmalignant_melanomaSubstitution - coding silent

c.266C>T; p.P89L; 4:73981244-73981244

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.69A>C; p.P23P; 4:73981885-73981885

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

')