EVL

Enah/Vasp-like, the group of MicroRNA protein coding host genes|ENAH/VASPs

Basic information

Region (hg38): 14:99971449-100144236

Links

ENSG00000196405 ∙ NCBI:51466 ∙ OMIM:616912 ∙ HGNC:20234 ∙ Uniprot:Q9UI08 ∙ 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 EVL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EVL 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			23		1	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	0	2

Variants in EVL

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

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

Position	Type	Phenotype	Significance	ClinVar
14-100084763-C-T		not specified	Uncertain significance (Dec 15, 2022)
14-100084784-C-T		not specified	Uncertain significance (Jun 10, 2024)
14-100084791-A-G		not specified	Uncertain significance (Mar 01, 2023)
14-100084793-A-G		not specified	Uncertain significance (Dec 21, 2021)
14-100097485-T-C		not specified	Uncertain significance (Jun 27, 2023)
14-100097497-C-T		not specified	Uncertain significance (Feb 17, 2024)
14-100097530-C-T		not specified	Uncertain significance (Oct 05, 2023)
14-100097531-G-A			Benign (Dec 31, 2019)
14-100097619-A-G		not specified	Uncertain significance (Sep 06, 2022)
14-100097651-A-C		not specified	Uncertain significance (Mar 24, 2023)
14-100123541-C-A		not specified	Uncertain significance (Jan 18, 2022)
14-100123547-A-G		not specified	Uncertain significance (Dec 28, 2022)
14-100123593-T-A		not specified	Uncertain significance (Jun 18, 2021)
14-100128539-C-T		not specified	Uncertain significance (Feb 06, 2023)
14-100128603-C-T		not specified	Uncertain significance (Dec 01, 2022)
14-100128659-G-A		not specified	Uncertain significance (Jun 29, 2023)
14-100128710-G-A		not specified	Uncertain significance (Jan 23, 2023)
14-100129572-G-A		not specified	Uncertain significance (May 05, 2023)
14-100129587-A-G		not specified	Uncertain significance (Mar 06, 2023)
14-100129669-A-G		not specified	Uncertain significance (Nov 21, 2023)
14-100135929-C-G			Benign (Dec 31, 2019)
14-100137622-C-T		not specified	Uncertain significance (Apr 28, 2023)
14-100141188-C-T		not specified	Uncertain significance (Jan 23, 2023)
14-100141190-G-A		not specified	Uncertain significance (Aug 14, 2023)
14-100141778-G-A		not specified	Uncertain significance (Jan 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EVL	protein_coding	protein_coding	ENST00000392920	14	172788

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00239	125741	0	6	125747	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.48	187	253	0.738	0.0000152	2710
Missense in Polyphen		101	140.04	0.72121		1521
Synonymous	-0.606	108	100	1.08	0.00000661	805
Loss of Function	4.41	2	26.5	0.0755	0.00000130	294

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000356	0.0000352
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
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 and lamellipodial and filopodial dynamics in migrating cells. EVL enhances actin nucleation and polymerization.
• Pathway: Developmental Biology;Signal Transduction;Generation of second messenger molecules;TCR signaling;TCR;Immune System;Adaptive Immune System;RHO GTPases Activate Formins;RHO GTPase Effectors;Signaling by Rho GTPases;Signaling by ROBO receptors;Axon guidance (Consensus)

Recessive Scores

• pRec: 0.167

Intolerance Scores

• loftool: 0.185
• rvis_EVS: -0.36
• rvis_percentile_EVS: 28.93

Haploinsufficiency Scores

• pHI: 0.743
• hipred: Y
• hipred_score: 0.853
• ghis: 0.564

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.941

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Evl
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; 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); 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; normal 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype

Gene ontology

• Biological process: actin filament organization;cell surface receptor signaling pathway;nervous system development;axon guidance;actin polymerization or depolymerization;animal organ morphogenesis;negative regulation of epithelial cell migration;actin nucleation;protein homotetramerization;positive regulation of stress fiber assembly;cellular response to interferon-gamma;negative regulation of ruffle assembly
• Cellular component: cytoplasm;cytosol;cytoskeleton;focal adhesion;membrane;lamellipodium;phagocytic vesicle
• Molecular function: actin binding;protein binding;profilin binding;SH3 domain binding