COPG2IT1
Chr 7COPG2 imprinted transcript 1
0
ClinVar variants
0
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— COPG2IT1
Some data sources returned errors (2)
clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
COPG2IT1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
GenCC
Gene Curation Coalition — multi-curator classifications
Orphanet
Rare disease encyclopedia and gene-disease associations
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting.
Yamada T et al.·Gene
2002
Construction of ceRNA network and identification of hub differentially expressed genes associated with breast cancer using reanalysis of microarray dataset: A systems biology approach.
Moallemi Rad L et al.·Pathol Res Pract
2023
Expression of imprinted genes in placenta is associated with infant neurobehavioral development.
Green BB et al.·Epigenetics
2015
Imprinting analysis of 10 genes and/or transcripts in a 1.5-Mb MEST-flanking region at human chromosome 7q32.
Yamada T et al.·Genomics
2004
Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32.
Nakabayashi K et al.·Hum Mol Genet
2002
The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome.
Bentley L et al.·J Med Genet
2003
Dynamic expression patterns of imprinted genes in human embryonic stem cells following prolonged passaging and differentiation.
Mai X et al.·J Assist Reprod Genet
2011
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
GenCC
Gene Curation Coalition — multi-curator classifications
Orphanet
Rare disease encyclopedia and gene-disease associations
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)