ERV3-1-ZNF117

Chr 7

ERV3-1-ZNF117 readthrough

Also known as: h-PLK

This locus represents naturally occurring readthrough transcription between the endogenous retrovirus group 3 member 1 (ERV3-1) and the zinc finger protein 117 (ZNF117) genes on chromosome 7. Readthrough transcripts may encode the same protein as the ZNF117 gene. [provided by RefSeq, Jan 2017]

0
Active trials
7
Pathogenic / LP
84
ClinVar variants
0
Pubs (1 yr)
Missense Z
LOEUF
Clinical SummaryERV3-1-ZNF117
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic· 71 VUS of 84 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/ERV3-1-ZNF117?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

84 submitted variants in ClinVar

Classification Summary

Pathogenic6
Likely Pathogenic1
VUS71
Likely Benign4
Benign2
6
Pathogenic
1
Likely Pathogenic
71
VUS
4
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
6
0
6
Likely Pathogenic
0
0
1
0
1
VUS
0
70
1
0
71
Likely Benign
0
4
0
0
4
Benign
0
1
0
1
2
Total0758184

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

ERV3-1-ZNF117 · 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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Clinical Literature
Landmark / reviewRecent case evidence