PGF
placental growth factor, the group of VEGF family
Basic information
Region (hg38): 14:74941834-74955626
Previous symbols: [ "PGFL" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PGF gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 11 | 12 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 11 | 1 | 0 |
Variants in PGF
This is a list of pathogenic ClinVar variants found in the PGF region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 14-74942714-G-A | not specified | Uncertain significance (Apr 25, 2022) | ||
| 14-74946255-C-T | not specified | Uncertain significance (Jan 23, 2023) | ||
| 14-74946268-G-A | not specified | Uncertain significance (May 24, 2024) | ||
| 14-74946401-G-A | not specified | Uncertain significance (Aug 12, 2021) | ||
| 14-74946403-A-T | not specified | Uncertain significance (Dec 14, 2022) | ||
| 14-74948514-C-T | not specified | Uncertain significance (Sep 06, 2023) | ||
| 14-74948519-C-T | not specified | Uncertain significance (May 12, 2024) | ||
| 14-74948523-C-T | not specified | Uncertain significance (Feb 17, 2022) | ||
| 14-74948537-G-A | not specified | Uncertain significance (May 22, 2023) | ||
| 14-74948547-C-T | not specified | Uncertain significance (Feb 28, 2024) | ||
| 14-74948570-C-A | not specified | Uncertain significance (May 04, 2022) | ||
| 14-74949376-G-A | not specified | Uncertain significance (Jan 24, 2024) | ||
| 14-74949491-C-T | not specified | Likely benign (Sep 22, 2023) | ||
| 14-74949511-G-A | not specified | Uncertain significance (Feb 21, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| PGF | protein_coding | protein_coding | ENST00000555567 | 7 | 13951 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.129 | 0.851 | 125735 | 0 | 3 | 125738 | 0.0000119 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.0768 | 102 | 104 | 0.979 | 0.00000712 | 1084 |
| Missense in Polyphen | 15 | 27.81 | 0.53937 | 317 | ||
| Synonymous | 0.303 | 42 | 44.6 | 0.942 | 0.00000343 | 339 |
| Loss of Function | 2.00 | 3 | 9.73 | 0.308 | 4.14e-7 | 117 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000947 | 0.0000904 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000463 | 0.0000462 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Growth factor active in angiogenesis and endothelial cell growth, stimulating their proliferation and migration. It binds to the receptor FLT1/VEGFR-1. Isoform PlGF-2 binds NRP1/neuropilin-1 and NRP2/neuropilin-2 in a heparin-dependent manner. Also promotes cell tumor growth. {ECO:0000269|PubMed:21215706}.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);Focal adhesion - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Focal Adhesion;VEGFA-VEGFR2 Signaling Pathway;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;Signal Transduction;VEGF ligand-receptor interactions;VEGF binds to VEGFR leading to receptor dimerization;Signaling by VEGF;Signaling by Receptor Tyrosine Kinases;VEGF and VEGFR signaling network;VEGFR1 specific signals
(Consensus)
Recessive Scores
- pRec
- 0.0847
Intolerance Scores
- loftool
- rvis_EVS
- -0.38
- rvis_percentile_EVS
- 27.42
Haploinsufficiency Scores
- pHI
- 0.341
- hipred
- Y
- hipred_score
- 0.594
- ghis
- 0.612
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.631
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Pgf
- Phenotype
- homeostasis/metabolism phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); neoplasm; vision/eye phenotype; immune system phenotype; embryo phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan);
Gene ontology
- Biological process
- angiogenesis;branching involved in ureteric bud morphogenesis;response to hypoxia;positive regulation of protein phosphorylation;positive regulation of endothelial cell proliferation;sprouting angiogenesis;signal transduction;cell-cell signaling;female pregnancy;positive regulation of cell population proliferation;regulation of signaling receptor activity;cell differentiation;animal organ regeneration;cellular response to hormone stimulus;vascular endothelial growth factor signaling pathway;response to drug;positive regulation of angiogenesis;vascular endothelial growth factor receptor signaling pathway;positive chemotaxis;induction of positive chemotaxis;positive regulation of cell division;regulation of morphogenesis of a branching structure;positive regulation of mast cell chemotaxis
- Cellular component
- extracellular region;extracellular space;membrane
- Molecular function
- vascular endothelial growth factor receptor binding;protein binding;growth factor activity;heparin binding;chemoattractant activity;protein homodimerization activity;protein heterodimerization activity