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LOC108281172 RPL13AP13-RPS19P4 intergenic nontranscribed chromatin-defined enhancer [ Homo sapiens (human) ]

Gene ID: 108281172, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108281172
Gene description
RPL13AP13-RPS19P4 intergenic nontranscribed chromatin-defined enhancer
Gene type
biological region
Feature type(s)
regulatory: enhancer, epigenetically_modified_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 element is located in the intergenic region between the RPL13AP13 (ribosomal protein L13a pseudogene 13) and RPS19P4 (ribosomal protein S19 pseudogene 4) loci. It was defined as a nontranscribed region with regulatory potential based on the co-occurrence of H3K27ac and H3K4me1 ChIP-seq data centered on P300 binding sites in HeLa cells, with an absence of capped transcripts by cap analysis of gene expression (CAGE). It was validated as a functional enhancer by reporter assays in both HeLa and HepG2 cells. [provided by RefSeq, Jul 2016]
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Genomic context

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Location:
5q11.2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (53351149..53351748)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (54178944..54179543)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (52646979..52647578)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986380 Neighboring gene uncharacterized LOC105378965 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86008 Neighboring gene Sharpr-MPRA regulatory region 15081 Neighboring gene Sharpr-MPRA regulatory region 5487 Neighboring gene ribosomal protein S19 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22546 Neighboring gene follistatin

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. An atlas of active enhancers across human cell types and tissues. Andersson R, et al. Nature, 2014 Mar 27. PMID 24670763, Free PMC Article
  2. An integrated encyclopedia of DNA elements in the human genome. ENCODE Project Consortium. Nature, 2012 Sep 6. PMID 22955616, 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

  • RPL13AP13-RPS19P4 interval no CAGE FANTOM5 enhancer

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_051132.1 

    Range
    101..700
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    53351149..53351748
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    54178944..54179543
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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