LOC111413032 FOXA motif-containing MPRA enhancer 170 [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC111413032
Gene description: FOXA motif-containing MPRA enhancer 170
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 was predicted to be a cell type-specific enhancer based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as a functional enhancer by high-throughput massively parallel reporter assays (MPRAs) in liver carcinoma HepG2 cells. This enhancer contains a conserved motif for the FOXA activator, and mutation of the motif results in reduced enhancer activity. This genomic region is also orthologous to an enhancer that regulates expression of the pig ANPEP (alanyl aminopeptidase, membrane, also known as aminopeptidase N, CD13 or APN) gene, and it is similarly present between the distal and proximal ANPEP promoters in human, approximately 2.7 kb upstream of transcripts originating from the proximal promoter. The orthologous pig enhancer was shown to increase the response of the human distal promoter to cell-cell contact-induced expression in lymphocytes. [provided by RefSeq, Apr 2020]
Annotation information: Note: This locus has been reviewed for its involvement in coronavirus biology, and is involved in host gene regulation.
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Genomic context

Location:: 15q

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (89809323..89809467)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (87565188..87565332)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (90352554..90352698)

Chromosome 15 - NC_000015.10 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

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General gene information

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Other Names

-2.7 kb ANPEP enhancer in proximal promoter region
FOXA activator MPRA enhancer 170
massively parallel reporter assay enhancer 170

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

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.