ERVFRD-1

Chr 6

endogenous retrovirus group FRD member 1, envelope

Also known as: ERVFRDE1, GLLL6191, HERV-FRD, HERV-W/FRD, UNQ6191, envFRD

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 a human endogenous retrovirus provirus on chromosome 6 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 plays a major role in placental development and trophoblast fusion. The protein has the characteristics of a typical retroviral envelope protein, including a cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. [provided by RefSeq, Jun 2012]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.36
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.36LOEUF
pLI 0.026
Z-score 1.02
OE 0.54 (0.241.36)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.08Z-score
OE missense 0.82 (0.740.92)
245 obs / 297.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.54 (0.241.36)
00.351.4
Missense OE?0.82 (0.740.92)
00.61.4
Synonymous OE?0.81
01.21.6
LoF obs/exp: 3 / 5.6Missense obs/exp: 245 / 297.6Syn Z: 1.62

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ERVFRD-1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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