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LOC108228196 NCOA7-HINT3 intergenic CAGE-defined high expression enhancer [ Homo sapiens (human) ]

Gene ID: 108228196, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108228196
Gene description
NCOA7-HINT3 intergenic CAGE-defined high expression enhancer
Gene type
biological region
Feature type(s)
misc_feature: CAGE_cluster
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 element is located in the intergenic region between the NCOA7 (nuclear receptor coactivator 7) and HINT3 (histidine triad nucleotide binding protein 3) genes. It was defined as a high expression actively transcribed enhancer based on the presence of balanced bidirectional capped transcripts by cap analysis of gene expression (CAGE). It was validated as a functional enhancer by reporter assays in both HeLa and HepG2 cells. A subregion was also validated as a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
6q22.32
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (125946198..125946692)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (127134894..127135388)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (126267344..126267838)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene nuclear receptor coactivator 7 Neighboring gene RN7SK pseudogene 56 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17523 Neighboring gene uncharacterized LOC124901397 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:126239365-126240564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25032 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25033 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:126306909-126307739 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:126307740-126308569 Neighboring gene RNA, 5S ribosomal pseudogene 216 Neighboring gene histidine triad nucleotide binding protein 3 Neighboring gene tRNA methyltransferase 11 homolog Neighboring gene Sharpr-MPRA regulatory region 12057 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 14B pseudogene 5

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. 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

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

  • NCOA7-HINT3 interval high CAGE FANTOM5 enhancer
  • Sharpr-MPRA regulatory region 12246

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_050968.1 

    Range
    101..595
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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
    125946198..125946692
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    127134894..127135388
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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