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LOC108281188 LRBA intron ENCODE-defined enhancer [ Homo sapiens (human) ]

Gene ID: 108281188, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108281188
Gene description
LRBA intron ENCODE-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 an intron of the LRBA (LPS responsive beige-like anchor protein) gene. It was defined as a nontranscribed region with regulatory potential based on the co-occurrence of H3K27ac and H3K4me1 ChIP-seq data from the ENCODE (ENCyclopedia Of DNA Elements) project, with an absence of capped transcripts by cap analysis of gene expression (CAGE) in HeLa cells. It was validated as a functional enhancer by reporter assays in HeLa cells. [provided by RefSeq, Jul 2016]
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Genomic context

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Location:
4q31.3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (151004096..151004710)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (154328024..154328638)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (151925248..151925862)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene LPS responsive beige-like anchor protein Neighboring gene Sharpr-MPRA regulatory region 7547 Neighboring gene zinc finger and BTB domain containing 8 opposite strand pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22015 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:151795383-151795916 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:151875385-151876005 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:151884380-151885210 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:151885211-151886041 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:151908831-151909345 Neighboring gene RNA, 5S ribosomal pseudogene 168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22017 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:151936707-151937304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22019 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:152020037-152021236 Neighboring gene adenylate kinase 4 pseudogene 6 Neighboring gene small nucleolar RNA, C/D box U73B Neighboring gene ribosomal protein S3A

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
  3. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074

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

  • LRBA intron 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_051148.1 

    Range
    101..715
    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    151004096..151004710
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    154328024..154328638
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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