U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC121331311 hESC enhancers GRCh37_chr8:123770608-123771162 and GRCh37_chr8:123771163-123771718 [ Homo sapiens (human) ]

Gene ID: 121331311, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC121331311
Gene description
hESC enhancers GRCh37_chr8:123770608-123771162 and GRCh37_chr8:123771163-123771718
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. Two subregions were validated as active enhancers by ChIP-STARR-seq in naive and primed human embryonic stem cells, where both are associated with the OCT4 and NANOG transcription factors and are marked by the H3K27ac histone modification, and one is additionally marked by H3K4me1. An overlapping subregion was also validated as a functional enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). A different subregion was also validated as a functional repressive element by Sharpr-MPRA technique in HepG2 cells (group: HepG2 Repressive DNase matched - State 6:EnhF, candidate strong enhancer, flanking open chromatin). [provided by RefSeq, Oct 2022]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
8q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (122758230..122759479)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (123889420..123890669)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (123770469..123770763)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 1583 Neighboring gene long intergenic non-protein coding RNA 1151 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:123701812-123703011 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:123705641-123706840 Neighboring gene uncharacterized LOC107986904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27852 Neighboring gene Sharpr-MPRA regulatory region 2746 Neighboring gene uncharacterized LOC124902012 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:123792337-123792838 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:123792839-123793338 Neighboring gene cyclin dependent kinase 5 pseudogene 1 Neighboring gene zinc fingers and homeoboxes 2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, Free PMC Article
  2. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

  • OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:123771163-123771718
  • OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:123770608-123771162
  • Sharpr-MPRA regulatory region 10718
  • Sharpr-MPRA regulatory region 2557

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_074335.2 

    Range
    101..1350
    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    122758230..122759479
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    123889420..123890669
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases