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LOC114803476 UGT2B7 (B) eExon liver enhancer [ Homo sapiens (human) ]

Gene ID: 114803476, updated on 17-Sep-2024

Summary

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Gene symbol
LOC114803476
Gene description
UGT2B7 (B) eExon liver enhancer
Gene type
biological region
Feature type(s)
regulatory: enhancer
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 overlaps a protein-coding exon of the UGT2B7 (UDP glucuronosyltransferase family 2 member B7) gene, was predicted to be an exonic enhancer (eExon) based on an enhancer-associated chromatin signature (H3K4me1, H3K27ac and p300) in liver. It was validated as a functional enhancer by reporter assays in HepG2 cells and mouse liver. This eExon was found to be associated with the FOXA1 and FOXA2 transcription factors by ChIP assays in human liver cells. [provided by RefSeq, Apr 2019]
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Genomic context

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See LOC114803476 in Genome Data Viewer
Location:
4q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (69098440..69098816)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (72538962..72539340)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (69964158..69964534)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene UDP glucuronosyltransferase family 2 member B26, pseudogene Neighboring gene uncharacterized LOC105377265 Neighboring gene MPRA-validated peak5046 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15466 Neighboring gene UDP glucuronosyltransferase family 2 member B7 Neighboring gene FOXA motif-containing MPRA enhancer 238 Neighboring gene SPOPL pseudogene 1 Neighboring gene UDP-glucuronosyltransferase 2A1-like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation. Birnbaum RY, et al. PLoS Genet, 2014 Oct. PMID 25340400, Free PMC Article
  2. Exonic enhancers: proceed with caution in exome and genome sequencing studies. Ahituv N. Genome Med, 2016 Feb 8. PMID 26856702, Free PMC Article

GeneRIFs: Gene References Into Functions

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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • enhancer exon of UGT2B7

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.

Genomic

  1. NG_064652.1 

    Range
    101..477
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    69098440..69098816
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    72538962..72539340
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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