ERVV-1

endogenous retrovirus group V member 1, envelope, the group of Envelope ERV derived genes

Basic information

Region (hg38): 19:53013921-53016123

Links

ENSG00000269526 ∙ NCBI:147664 ∙ ∙ HGNC:26501 ∙ Uniprot:B6SEH8 ∙ 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 ERVV-1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERVV-1 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			24	2		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	2	0

Variants in ERVV-1

This is a list of pathogenic ClinVar variants found in the ERVV-1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-53014172-C-T		not specified	Uncertain significance (Jul 09, 2024)
19-53014236-A-G		not specified	Uncertain significance (Feb 14, 2024)
19-53014241-A-G		not specified	Uncertain significance (Dec 14, 2024)
19-53014248-G-A			Likely benign (Sep 01, 2022)
19-53014265-T-A		not specified	Uncertain significance (Jun 11, 2021)
19-53014304-G-T		not specified	Uncertain significance (Aug 17, 2022)
19-53014341-C-T		not specified	Uncertain significance (Jun 10, 2022)
19-53014490-G-A		not specified	Uncertain significance (May 08, 2024)
19-53014523-A-G		not specified	Uncertain significance (Mar 14, 2024)
19-53014542-T-A		not specified	Uncertain significance (Sep 22, 2022)
19-53014614-G-A		not specified	Uncertain significance (May 18, 2022)
19-53014757-G-A		not specified	Likely benign (Jul 12, 2023)
19-53014760-T-C		not specified	Uncertain significance (May 30, 2022)
19-53014797-T-C		not specified	Uncertain significance (Mar 14, 2025)
19-53014815-G-A		not specified	Uncertain significance (Nov 09, 2024)
19-53014836-G-C		not specified	Uncertain significance (Oct 25, 2024)
19-53014842-C-G		not specified	Uncertain significance (Jan 23, 2023)
19-53014851-A-G		not specified	Uncertain significance (Feb 28, 2024)
19-53014907-A-G		not specified	Uncertain significance (May 30, 2024)
19-53014907-A-T		not specified	Uncertain significance (Dec 28, 2023)
19-53014971-G-C		not specified	Uncertain significance (Jun 10, 2024)
19-53014994-G-A		not specified	Uncertain significance (Nov 14, 2024)
19-53015001-G-A		not specified	Uncertain significance (Feb 07, 2025)
19-53015006-A-C		not specified	Uncertain significance (Oct 14, 2023)
19-53015010-G-A		not specified	Uncertain significance (Nov 08, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERVV-1	protein_coding	protein_coding	ENST00000602168	1	2202

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.24	146	195	0.750	0.00000924	3062
Missense in Polyphen		40	60.696	0.65902		868
Synonymous	1.09	63	75.1	0.839	0.00000380	965
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.440

Essentials

• essential_gene_CRISPR: N

Gene Damage Prediction

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

Gene ontology

• Cellular component: integral component of membrane