VASP

vasodilator stimulated phosphoprotein, the group of ENAH/VASPs

Basic information

Region (hg38): 19:45506579-45526989

Links

ENSG00000125753 ∙ NCBI:7408 ∙ OMIM:601703 ∙ HGNC:12652 ∙ Uniprot:P50552 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the VASP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the VASP 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			22		1	23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	22	0	2

Variants in VASP

This is a list of pathogenic ClinVar variants found in the VASP region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-45517686-G-A		not specified	Uncertain significance (Mar 17, 2023)
19-45517722-G-A		not specified	Uncertain significance (Jun 16, 2024)
19-45517954-G-A		not specified	Uncertain significance (Feb 17, 2024)
19-45518031-G-C		not specified	Uncertain significance (Jun 24, 2022)
19-45518061-G-A			Benign (Jul 06, 2018)
19-45521361-C-G		not specified	Uncertain significance (Oct 12, 2022)
19-45521361-C-T		not specified	Uncertain significance (May 29, 2024)
19-45521381-C-G		not specified	Uncertain significance (Jun 30, 2023)
19-45521382-C-T		not specified	Uncertain significance (Dec 05, 2022)
19-45521398-G-T		not specified	Uncertain significance (Apr 17, 2024)
19-45522178-G-A		not specified	Uncertain significance (Aug 17, 2022)
19-45522212-A-G		not specified	Uncertain significance (May 08, 2023)
19-45522349-C-T		not specified	Uncertain significance (Apr 11, 2023)
19-45522378-C-G		not specified	Uncertain significance (Mar 08, 2024)
19-45522412-C-A		not specified	Uncertain significance (Nov 18, 2022)
19-45522412-C-T		not specified	Uncertain significance (Jun 28, 2022)
19-45522466-G-A		not specified	Uncertain significance (May 31, 2023)
19-45522493-C-T		not specified	Uncertain significance (Oct 18, 2021)
19-45522511-G-C		not specified	Uncertain significance (Jun 29, 2022)
19-45522723-G-C		not specified	Uncertain significance (Mar 29, 2023)
19-45523655-C-T		not specified	Uncertain significance (Jan 04, 2022)
19-45523673-C-T		not specified	Uncertain significance (May 18, 2022)
19-45523883-TAG-T			Benign (Jul 06, 2018)
19-45524100-C-G		not specified	Uncertain significance (Feb 06, 2023)
19-45524114-T-C		not specified	Uncertain significance (Dec 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
VASP	protein_coding	protein_coding	ENST00000245932	13	20405

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.947	0.0533	125698	0	7	125705	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.21	177	228	0.775	0.0000147	2401
Missense in Polyphen		27	41.4	0.65218		523
Synonymous	-0.372	101	96.4	1.05	0.00000689	794
Loss of Function	3.81	3	22.5	0.134	0.00000111	251

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000269	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance, lamellipodial and filopodial dynamics, platelet activation and cell migration. VASP promotes actin filament elongation. It protects the barbed end of growing actin filaments against capping and increases the rate of actin polymerization in the presence of capping protein. VASP stimulates actin filament elongation by promoting the transfer of profilin- bound actin monomers onto the barbed end of growing actin filaments. Plays a role in actin-based mobility of Listeria monocytogenes in host cells. Regulates actin dynamics in platelets and plays an important role in regulating platelet aggregation. {ECO:0000269|PubMed:10087267, ECO:0000269|PubMed:10438535, ECO:0000269|PubMed:15939738, ECO:0000269|PubMed:17082196, ECO:0000269|PubMed:18559661}.
• Pathway: Platelet activation - Homo sapiens (human);Focal adhesion - Homo sapiens (human);Fc gamma R-mediated phagocytosis - Homo sapiens (human);Tight junction - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Leukocyte transendothelial migration - Homo sapiens (human);Integrin-mediated Cell Adhesion;Focal Adhesion;Developmental Biology;Generation of second messenger molecules;TCR signaling;TCR;Immune System;Adaptive Immune System;EGFR1;E-cadherin signaling in keratinocytes;Signaling by ROBO receptors;Axon guidance;Cell-extracellular matrix interactions;Cell junction organization;Cell-Cell communication;Stabilization and expansion of the E-cadherin adherens junction;PAR1-mediated thrombin signaling events;IL8- and CXCR2-mediated signaling events (Consensus)

Recessive Scores

• pRec: 0.358

Intolerance Scores

• loftool: 0.228
• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.57

Haploinsufficiency Scores

• pHI: 0.493
• hipred: Y
• hipred_score: 0.739
• ghis: 0.554

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.807

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Vasp
• Phenotype: homeostasis/metabolism phenotype; cellular 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); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: neural tube closure;axon guidance;actin polymerization or depolymerization;positive regulation of actin filament polymerization;cell junction assembly;protein homotetramerization
• Cellular component: cytosol;plasma membrane;bicellular tight junction;focal adhesion;actin cytoskeleton;lamellipodium membrane;filopodium membrane;extracellular exosome
• Molecular function: actin binding;protein binding;profilin binding;SH3 domain binding;cadherin binding