ERV3 T87I - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

ERV3 T87I

(ERV3 Thr87Ile)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr7:64453136: 91.6% (8850/9664) in EVS
  • Frequency shown in summary reports: 91.6% (8850/9664)

Publications
 

Kato N, Shimotohno K, VanLeeuwen D, Cohen M. Human proviral mRNAs down regulated in choriocarcinoma encode a zinc finger protein related to Krüppel. Mol Cell Biol. 1990 Aug;10(8):4401-5. PubMed PMID: 2115127; PubMed Central PMCID: PMC361000.

RNA transcripts of the HERV-R (ERV3) human provirus that are abundant in placenta but absent in choriocarcinoma contain nonproviral genomic sequences at their 3’ ends. We report here the isolation of cDNA clones of these genomic sequences. The transcripts encode a Krüppel-related zinc finger protein consisting of a unique leader region and more than 12 28-amino-acid finger motifs.

Genomes
 

 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr7:64453136

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom A @ chr7:64453136

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom A @ chr7:64453136

 

 

 

 

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom A @ chr7:64453136

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom A @ chr7:64453136

 

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom A @ chr7:64453136

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom A @ chr7:64453136

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom A @ chr7:64453136

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom A @ chr7:64453136

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom A @ chr7:64453136

 

 

 

Other external references
 

    dbSNP
  • rs6460219
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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