Home > Gene Browser > ERVW-1

ERVW-1

Synonyms
ENV, ENVW, ERVWE1, HERV-7q, HERV-W-ENV, HERV7Q, HERVW, HERVWENV
External resources
Summary
Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on chromosome 7 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product is expressed in the placental syncytiotrophoblast and is involved in fusion of the cytotrophoblast cells to form the syncytial layer of the placenta. The protein has the characteristics of a typical retroviral envelope protein, including a furin cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. Alternatively spliced transcript variants encoding the same protein have been found for this gene.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
41
Likely pathogenic
1,821
VUS
7,960
Likely benign
5,297
Benign
0

Patient Phenotypes

Proportions of phenotypes among 1833 patients carrying pathogenic or likely pathogenic variants on ERVW-1 gene are displayed below. The following symptoms were found in patients with a variant in ERVW-1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.1%
Abnormality of the musculoskeletal system
32.2%
Abnormality of the eye
28.4%
Abnormality of head or neck
26.5%
Abnormality of the cardiovascular system
20.6%
Growth abnormality
16.5%
Abnormality of the ear
14.7%
Abnormality of limbs
13.3%
Abnormality of the genitourinary system
12.7%
Abnormality of the integument
12.5%
Abnormality of metabolism homeostasis
10.2%
Abnormality of the digestive system
10.1%
Abnormality of the immune system
7.7%
Abnormality of the respiratory system
4.7%
Abnormality of blood and blood forming tissues
4.4%
Abnormality of the endocrine system
4%
Abnormality of prenatal development or birth
3.3%
Neoplasm
2.9%
Constitutional symptom
1.2%
Abnormal cellular phenotype
1%
Abnormality of the breast
1%
Abnormality of the voice
0.5%
Abnormality of the thoracic cavity
0.1%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.