LOC128667222 MPRA-validated PTGER4 lymphoblastoid enhancer [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC128667222
Gene description: MPRA-validated PTGER4 lymphoblastoid enhancer
Gene type: biological region
Feature type(s): regulatory: enhancer, transcriptional_cis_regulatory_region
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This genomic region, which is located approximately 190 kb upstream of the PTGER4 (prostaglandin E receptor 4) gene, represents a lymphoblastoid enhancer with skewed allelic activity. It includes an expression-modulating variant (emVar), rs9283753, that is in linkage disequilibrium with risk alleles for autoimmune disorders, including ankylosing spondylitis, Crohn's disease and multiple sclerosis. This region was validated as an enhancer with differential allelic activity by massively parallel reporter assays (MPRAs) in lymphoblastoid cell lines (LCLs). The rs9283753 emVar was also validated as a cis-regulatory element for PTGER4 based on CRISPR/Cas9-mediated allelic replacements in LCLs. [provided by RefSeq, Feb 2023]
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Genomic context

Location:: chromosome: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (40490433..40490582)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (40746828..40746977)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

General gene information

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Other Names

CRISPR/Cas9 allelic replacement-validated PTGER4 cis-regulatory element

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

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These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.