VEZF1

vascular endothelial zinc finger 1, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 17:57971547-57988259

Previous symbols: [ "ZNF161" ]

Links

ENSG00000136451

∙ NCBI:7716 ∙ OMIM:606747 ∙ HGNC:12949 ∙ Uniprot:Q14119 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

autism spectrum disorder (Limited), mode of inheritance: AD
cardiomyopathy, dilated, 100 (Limited), mode of inheritance: AD
cardiomyopathy, dilated, 100 (Limited), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Cardiomyopathy, dilated, 1OO	AD	Cardiovascular	The condition may involve increased risk of cardiomyopathy, and awareness may allow early identification and management of cardiac disease	Cardiovascular	36657711

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the VEZF1 gene.

not_specified (40 variants)
VEZF1-related_disorder (7 variants)
not_provided (4 variants)
Cardiomyopathy,_dilated,_100 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the VEZF1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007146.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			35 clinvar			35
nonsense	1 clinvar					1
start loss						0
frameshift				2 clinvar		2
splice donor/acceptor (+/-2bp)						0
Total	1	0	35	4	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
VEZF1	protein_coding	protein_coding	ENST00000581208	6	16711

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.994	0.00577	125656	18	48	125722	0.000263

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.92	148	287	0.515	0.0000149	3426
Missense in Polyphen		29	84.158	0.34459		1018
Synonymous	-1.38	126	108	1.17	0.00000584	1041
Loss of Function	3.91	1	19.7	0.0507	0.00000108	230

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00195	0.00114
Ashkenazi Jewish	0.00	0.00
East Asian	0.000223	0.000163
Finnish	0.000609	0.000277
European (Non-Finnish)	0.000278	0.000141
Middle Eastern	0.000223	0.000163
South Asian	0.00146	0.000719
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Possible transcription factor. Specifically binds to the CT/GC-rich region of the interleukin-3 promoter and mediates tax transactivation of IL-3. {ECO:0000269|PubMed:8035792}.;

Recessive Scores

pRec: 0.122

Intolerance Scores

loftool: 0.246
rvis_EVS: -0.65
rvis_percentile_EVS: 16.36

Haploinsufficiency Scores

pHI: 0.880
hipred: Y
hipred_score: 0.662
ghis: 0.635

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.646

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Vezf1
Phenotype: growth/size/body region phenotype; craniofacial phenotype; immune system phenotype; embryo 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); 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;endothelial cell development;regulation of transcription by RNA polymerase II;transcription by RNA polymerase II;cellular defense response;positive regulation of endothelial cell differentiation;positive regulation of transcription by RNA polymerase II
Cellular component: nucleoplasm
Molecular function: RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;metal ion binding