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LOC113146423 OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:148920936-148921524 [ Homo sapiens (human) ]

Gene ID: 113146423, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113146423
Gene description
OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:148920936-148921524
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 ChIP-STARR-seq in naive human embryonic stem cells, where it associates with the OCT4 and NANOG transcription factors and is marked by the H3K27ac histone modification. 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 non-DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Oct 2022]
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Genomic context

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See LOC113146423 in Genome Data Viewer
Location:
6q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (148599800..148600388)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (149796167..149796755)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (148921129..148921423)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene SAM and SH3 domain containing 1 Neighboring gene cytochrome P450 family 51 subfamily A member 1 pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:148834032-148834830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:148834831-148835628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:148837963-148838463 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:148841275-148841814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:148854137-148854638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:148854639-148855138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17651 Neighboring gene meiotic recombination hotspot D Neighboring gene SNRPE pseudogene 6 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:148965896-148966430 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:148966431-148966966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25234 Neighboring gene ribosomal protein SA pseudogene 40 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25235 Neighboring gene uncharacterized LOC124901425

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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 590

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_061648.2 

    Range
    101..689
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    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
    148599800..148600388
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    149796167..149796755
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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