PF4V1
Basic information
Region (hg38): 4:73853296-73854483
Links
Phenotypes
GenCC
Source:
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 PF4V1 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 PF4V1
This is a list of pathogenic ClinVar variants found in the PF4V1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 4-73853394-G-A | not specified | Uncertain significance (Mar 31, 2024) | ||
| 4-73853432-C-T | not specified | Uncertain significance (Oct 26, 2021) | ||
| 4-73853454-T-G | not specified | Uncertain significance (Jan 22, 2025) | ||
| 4-73853460-G-A | not specified | Uncertain significance (Feb 10, 2022) | ||
| 4-73853793-A-C | not specified | Uncertain significance (Dec 20, 2024) | ||
| 4-73853798-A-T | not specified | Uncertain significance (Feb 07, 2023) | ||
| 4-73853848-A-G | not specified | Uncertain significance (Oct 05, 2023) | ||
| 4-73853881-G-A | not specified | Uncertain significance (Mar 25, 2024) | ||
| 4-73854047-G-C | not specified | Uncertain significance (Mar 20, 2023) | ||
| 4-73854049-A-T | not specified | Uncertain significance (Sep 28, 2022) | ||
| 4-73854052-G-C | not specified | Uncertain significance (Feb 28, 2024) | ||
| 4-73854061-T-C | not specified | Uncertain significance (Oct 25, 2023) | ||
| 4-73854078-G-A | not specified | Uncertain significance (Aug 05, 2024) | ||
| 4-73854082-T-C | not specified | Likely benign (Jul 03, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| PF4V1 | protein_coding | protein_coding | ENST00000226524 | 3 | 967 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.000816 | 0.346 | 125736 | 0 | 10 | 125746 | 0.0000398 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.0489 | 60 | 61.1 | 0.982 | 0.00000343 | 664 |
| Missense in Polyphen | 14 | 16.441 | 0.8515 | 205 | ||
| Synonymous | -0.705 | 33 | 28.2 | 1.17 | 0.00000161 | 221 |
| Loss of Function | -0.525 | 4 | 3.02 | 1.33 | 1.27e-7 | 37 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000246 | 0.000242 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000452 | 0.0000439 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Inhibitor of angiogenesis. Inhibitor of endothelial cell chemotaxis (in vitro). {ECO:0000269|PubMed:15459074}.;
- Pathway
- Chemokine signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Cell surface interactions at the vascular wall;Hemostasis;Common Pathway of Fibrin Clot Formation;Formation of Fibrin Clot (Clotting Cascade)
(Consensus)
Recessive Scores
- pRec
- 0.108
Intolerance Scores
- loftool
- rvis_EVS
- 0.15
- rvis_percentile_EVS
- 64.11
Haploinsufficiency Scores
- pHI
- 0.0339
- hipred
- N
- hipred_score
- 0.139
- ghis
- 0.396
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0801
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Pf4
- Phenotype
- hematopoietic system phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- inflammatory response;immune response;regulation of signaling receptor activity;platelet activation;neutrophil chemotaxis;leukocyte chemotaxis;antimicrobial humoral immune response mediated by antimicrobial peptide;chemokine-mediated signaling pathway;cellular response to lipopolysaccharide
- Cellular component
- extracellular space
- Molecular function
- protein binding;chemokine activity;heparin binding