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LOC121403744 NANOG-H3K4me1 hESC enhancer GRCh37_chr12:4966717-4967360 [ Homo sapiens (human) ]

Gene ID: 121403744, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121403744
Gene description
NANOG-H3K4me1 hESC enhancer GRCh37_chr12:4966717-4967360
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 NANOG transcription factor and is marked by the H3K4me1 histone modification. 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 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC121403744 in Genome Data Viewer
Location:
12p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (4857551..4858194)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (4864595..4865238)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (4966717..4967360)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902863 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 8 Neighboring gene Sharpr-MPRA regulatory region 13428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4872941-4873441 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:4932879-4934078 Neighboring gene MPRA-validated peak1537 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4939415-4939916 Neighboring gene potassium voltage-gated channel subfamily A member 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4962778-4963278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5834 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:5008995-5010194 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:5015702-5016901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:5017696-5018452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4155 Neighboring gene potassium voltage-gated channel subfamily A member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5835 Neighboring gene uncharacterized LOC100507560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5837

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 168

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_074616.2 

    Range
    101..744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    4857551..4858194
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    4864595..4865238
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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