EGFL8

EGF like domain multiple 8

Basic information

Region (hg38): 6:32164595-32168281

Previous symbols: [ "C6orf8" ]

Links

ENSG00000241404 ∙ NCBI:80864 ∙ OMIM:609897 ∙ HGNC:13944 ∙ Uniprot:Q99944 ∙ 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 EGFL8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EGFL8 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			23	1		24
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	2	0

Variants in EGFL8

This is a list of pathogenic ClinVar variants found in the EGFL8 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-32166235-G-A		not specified	Uncertain significance (Oct 21, 2024)
6-32166503-G-T		not specified	Uncertain significance (Jan 06, 2023)
6-32166518-A-G		not specified	Uncertain significance (Jun 16, 2024)
6-32166600-G-T		not specified	Uncertain significance (Jul 02, 2024)
6-32166618-C-G			Likely benign (May 01, 2024)
6-32166712-G-A		not specified	Uncertain significance (Jun 04, 2024)
6-32166788-C-G		not specified	Uncertain significance (Aug 07, 2024)
6-32166795-G-A		not specified	Uncertain significance (Dec 21, 2022)
6-32166913-T-A		not specified	Uncertain significance (Jan 23, 2024)
6-32166948-G-A		not specified	Uncertain significance (Apr 08, 2022)
6-32166978-G-A		not specified	Uncertain significance (Jan 19, 2024)
6-32167089-G-A		not specified	Uncertain significance (Apr 17, 2024)
6-32167093-A-G		not specified	Uncertain significance (Jul 14, 2021)
6-32167099-G-A		not specified	Uncertain significance (Sep 15, 2021)
6-32167103-G-T		not specified	Uncertain significance (May 04, 2022)
6-32167129-A-G		not specified	Likely benign (May 04, 2023)
6-32167161-G-A		not specified	Uncertain significance (Mar 14, 2023)
6-32167244-A-G		not specified	Uncertain significance (May 24, 2023)
6-32167371-A-G		not specified	Uncertain significance (May 11, 2022)
6-32167373-C-T		not specified	Uncertain significance (Dec 14, 2023)
6-32167374-G-A		not specified	Uncertain significance (Nov 03, 2022)
6-32167545-G-C		not specified	Uncertain significance (Feb 15, 2023)
6-32167602-C-G		not specified	Uncertain significance (Dec 19, 2023)
6-32167603-G-A		not specified	Uncertain significance (Oct 20, 2021)
6-32167912-T-G		not specified	Uncertain significance (Aug 19, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EGFL8	protein_coding	protein_coding	ENST00000395512	8	3699

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.13e-7	0.567	124863	2	883	125748	0.00353

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.774	169	200	0.846	0.0000136	1869
Missense in Polyphen		63	83.162	0.75756		809
Synonymous	0.396	81	85.7	0.946	0.00000632	597
Loss of Function	1.02	13	17.6	0.738	8.38e-7	181

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00388	0.00380
Ashkenazi Jewish	0.00268	0.00268
East Asian	0.00329	0.00327
Finnish	0.00120	0.00120
European (Non-Finnish)	0.00545	0.00542
Middle Eastern	0.00329	0.00327
South Asian	0.00121	0.00121
Other	0.00424	0.00424

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.384
• rvis_EVS: 0.04
• rvis_percentile_EVS: 57.15

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.208
• ghis: 0.406

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.153

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Egfl8
• Phenotype: endocrine/exocrine gland 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); reproductive system phenotype; normal phenotype

Gene ontology

• Biological process: in utero embryonic development;anatomical structure development
• Cellular component: extracellular region;cell surface
• Molecular function: signaling receptor binding;calcium ion binding