VASH1

vasohibin 1

Basic information

Region (hg38): 14:76761468-76783015

Previous symbols: [ "KIAA1036" ]

Links

ENSG00000071246 ∙ NCBI:22846 ∙ OMIM:609011 ∙ HGNC:19964 ∙ Uniprot:Q7L8A9 ∙ 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 VASH1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the VASH1 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					1	1
missense			21			21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	0	1

Variants in VASH1

This is a list of pathogenic ClinVar variants found in the VASH1 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-76762825-C-T		not specified	Uncertain significance (Feb 28, 2024)
14-76762861-G-T		not specified	Uncertain significance (Mar 29, 2022)
14-76762892-C-A		not specified	Uncertain significance (Apr 28, 2022)
14-76762931-C-G		not specified	Uncertain significance (Nov 14, 2023)
14-76763071-A-G		not specified	Uncertain significance (Apr 17, 2023)
14-76769969-A-C		not specified	Uncertain significance (Jul 12, 2023)
14-76769978-G-A		not specified	Uncertain significance (Jan 24, 2023)
14-76770014-C-T		not specified	Uncertain significance (Apr 19, 2023)
14-76771225-A-G		not specified	Uncertain significance (Oct 28, 2023)
14-76773198-G-A		not specified	Uncertain significance (Feb 06, 2024)
14-76775923-C-T		not specified	Uncertain significance (Dec 16, 2023)
14-76775944-A-G		not specified	Uncertain significance (Apr 23, 2024)
14-76775992-T-C		not specified	Uncertain significance (Feb 15, 2023)
14-76776031-G-A		not specified	Uncertain significance (Jan 03, 2024)
14-76776081-G-A			Benign (Feb 08, 2018)
14-76776205-G-T		not specified	Uncertain significance (May 09, 2024)
14-76776259-G-C		not specified	Uncertain significance (Aug 21, 2023)
14-76777960-T-C		not specified	Uncertain significance (Jul 13, 2021)
14-76777975-G-A		not specified	Uncertain significance (Nov 17, 2022)
14-76778008-A-G		not specified	Uncertain significance (Dec 08, 2023)
14-76778031-C-G		not specified	Uncertain significance (Sep 26, 2022)
14-76778032-A-G		not specified	Uncertain significance (Dec 03, 2021)
14-76778963-A-C		not specified	Uncertain significance (Dec 15, 2023)
14-76778979-A-C		not specified	Uncertain significance (Jan 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
VASH1	protein_coding	protein_coding	ENST00000167106	7	20823

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.326	0.671	125737	0	11	125748	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.45	161	222	0.726	0.0000151	2326
Missense in Polyphen		49	94.698	0.51744		911
Synonymous	0.979	81	93.0	0.871	0.00000680	730
Loss of Function	2.55	3	12.8	0.234	5.81e-7	173

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000218	0.000214
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000466	0.0000462
European (Non-Finnish)	0.0000179	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.000100	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Tyrosine carboxypeptidase that removes the C-terminal tyrosine residue of alpha-tubulin, thereby regulating microtubule dynamics and function (PubMed:29146869). Acts as an angiogenesis inhibitor: inhibits migration, proliferation and network formation by endothelial cells as well as angiogenesis (PubMed:15467828, PubMed:16488400, PubMed:16707096, PubMed:19204325). This inhibitory effect is selective to endothelial cells as it does not affect the migration of smooth muscle cells or fibroblasts (PubMed:15467828, PubMed:16488400, PubMed:16707096). {ECO:0000269|PubMed:15467828, ECO:0000269|PubMed:16488400, ECO:0000269|PubMed:16707096, ECO:0000269|PubMed:19204325, ECO:0000269|PubMed:29146869}.

Recessive Scores

• pRec: 0.116

Intolerance Scores

• loftool: 0.294
• rvis_EVS: -0.49
• rvis_percentile_EVS: 22.09

Haploinsufficiency Scores

• pHI: 0.147
• hipred: Y
• hipred_score: 0.774
• ghis: 0.643

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.705

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Vash1
• 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;negative regulation of endothelial cell proliferation;proteolysis;cell cycle arrest;response to wounding;negative regulation of endothelial cell migration;negative regulation of angiogenesis;negative regulation of blood vessel endothelial cell migration;labyrinthine layer blood vessel development;negative regulation of lymphangiogenesis;regulation of cellular senescence
• Cellular component: extracellular space;cytoplasm;endoplasmic reticulum;apical part of cell
• Molecular function: actin binding;metallocarboxypeptidase activity;protein binding