EGFL7

EGF like domain multiple 7, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 9:136658856-136672678

Links

ENSG00000172889 ∙ NCBI:51162 ∙ OMIM:608582 ∙ HGNC:20594 ∙ Uniprot:Q9UHF1 ∙ 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 EGFL7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EGFL7 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			18	3	1	22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	18	3	1

Variants in EGFL7

This is a list of pathogenic ClinVar variants found in the EGFL7 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-136668346-C-T		not specified	Uncertain significance (Jun 18, 2021)
9-136668356-G-A		not specified	Uncertain significance (Jul 14, 2021)
9-136668585-G-A		not specified	Likely benign (Jun 24, 2022)
9-136668609-G-A		not specified	Uncertain significance (Jul 20, 2021)
9-136669614-A-G		not specified	Uncertain significance (Jan 17, 2024)
9-136669640-G-A		not specified	Uncertain significance (May 15, 2023)
9-136669668-C-T		not specified	Uncertain significance (Jan 08, 2024)
9-136669935-G-A			Benign/Likely benign (Jul 01, 2023)
9-136669940-G-A			Benign (Dec 31, 2019)
9-136669988-C-T		not specified	Uncertain significance (Nov 10, 2022)
9-136670179-A-T		not specified	Uncertain significance (Aug 15, 2023)
9-136670210-C-T		not specified	Uncertain significance (Jun 02, 2023)
9-136670225-G-A		not specified	Uncertain significance (Apr 25, 2022)
9-136670228-G-A		not specified	Uncertain significance (Dec 22, 2023)
9-136670276-G-A		not specified	Uncertain significance (Oct 26, 2022)
9-136670976-G-C		not specified	Uncertain significance (Dec 21, 2022)
9-136671948-C-T		not specified	Uncertain significance (Sep 17, 2021)
9-136671969-A-G		not specified	Likely benign (Jan 23, 2023)
9-136671978-A-G		not specified	Uncertain significance (Aug 02, 2023)
9-136671990-C-T		not specified	Uncertain significance (Aug 09, 2021)
9-136672058-A-G		not specified	Uncertain significance (Jul 20, 2021)
9-136672083-G-A		not specified	Uncertain significance (May 24, 2023)
9-136672096-C-A			Benign (Dec 31, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EGFL7	protein_coding	protein_coding	ENST00000371699	8	13823

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.55e-18	0.000246	125252	0	54	125306	0.000216

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.319	180	168	1.07	0.0000110	1721
Missense in Polyphen		65	64.32	1.0106		639
Synonymous	-0.992	83	72.3	1.15	0.00000511	556
Loss of Function	-1.81	22	14.5	1.51	7.08e-7	160

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000749	0.000739
Ashkenazi Jewish	0.00	0.00
East Asian	0.000503	0.000490
Finnish	0.00	0.00
European (Non-Finnish)	0.000197	0.000186
Middle Eastern	0.000503	0.000490
South Asian	0.000375	0.000359
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates vascular tubulogenesis in vivo. Inhibits platelet-derived growth factor (PDGF)-BB-induced smooth muscle cell migration and promotes endothelial cell adhesion to the extracellular matrix and angiogenesis. {ECO:0000269|PubMed:23386126, ECO:0000269|PubMed:23639441}.

Recessive Scores

• pRec: 0.138

Intolerance Scores

• loftool: 0.363
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.96

Haploinsufficiency Scores

• pHI: 0.141
• hipred: N
• hipred_score: 0.238
• ghis: 0.528

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: K
• gene_indispensability_pred: N
• gene_indispensability_score: 0.471

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Egfl7
• Phenotype: homeostasis/metabolism 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); 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); vision/eye phenotype

Zebrafish Information Network

• Gene name: egfl7
• Affected structure: blood vessel endothelial cell
• Phenotype tag: abnormal
• Phenotype quality: mislocalised

Gene ontology

• Biological process: angiogenesis;blood vessel development;vasculogenesis;positive regulation of endothelial cell proliferation;cell adhesion;negative regulation of Notch signaling pathway;anatomical structure development
• Cellular component: extracellular region;extracellular space;cell surface;collagen-containing extracellular matrix
• Molecular function: signaling receptor binding;calcium ion binding