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LOC121740654 OCT4-NANOG hESC enhancer GRCh37_chr6:62315562-62316235 [ Homo sapiens (human) ]

Gene ID: 121740654, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121740654
Gene description
OCT4-NANOG hESC enhancer GRCh37_chr6:62315562-62316235
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 sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive human embryonic stem cells, where it associates with the OCT4 and NANOG transcription factors. A subregion was also validated as an 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 non-DNase unmatched - State 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
6q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (61605657..61606330)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (62750352..62751025)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (62315849..62316143)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr6:57850183-57850684 Neighboring gene RBBP4 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:62043813-62044313 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:62043312-62043812 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:61904506-61905007 Neighboring gene Sharpr-MPRA regulatory region 774 Neighboring gene MT-RNR2 like 9 (pseudogene) Neighboring gene KH RNA binding domain containing, signal transduction associated 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:62650913-62651412 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17306 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:63202223-63202723 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:63295707-63296254 Neighboring gene dihydrofolate reductase pseudogene 5 Neighboring gene NANOG hESC enhancer GRCh37_chr6:63614387-63614952 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:63708848-63710047 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:63762677-63763208 Neighboring gene NANOG hESC enhancer GRCh37_chr6:63790275-63790776 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:63796218-63796424 Neighboring gene keratin, type II pseudogene

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. 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

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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

  • Sharpr-MPRA regulatory region 7997

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_075716.2 

    Range
    101..774
    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    61605657..61606330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    62750352..62751025
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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