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LOC108251796 AHRR intron CAGE-defined high expression enhancer [ Homo sapiens (human) ]

Gene ID: 108251796, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108251796
Gene description
AHRR intron 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 region is located in an intron of the AHRR (aryl-hydrocarbon receptor repressor) gene. A subregion 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), and was validated as an enhancer by reporter assays in HeLa cells. Another subregion was also validated as an enhancer by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in primed human embryonic stem cells, where it is marked by the H3K4me1 histone modification. This locus also includes a subregion containing a Neanderthal adaptively introgressed genetic variant. That subregion was validated as an enhancer by MPRAs in K562 erythroleukemia cells, with activity observed for the non-introgressed 5:414101 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC108251796 in Genome Data Viewer
Location:
5p15.3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (413339..414186)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (406366..407213)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (413702..414301)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene PDCD6-AHRR readthrough (NMD candidate) Neighboring gene programmed cell death 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:295122-295292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:296594-297122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:297123-297651 Neighboring gene PPP4R2 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:301361-301866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:301867-302372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:306908-307792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15863 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:322065-322632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22273 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15866 Neighboring gene aryl hydrocarbon receptor repressor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:372826-373456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15868 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15869 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22281 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:399561-400760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15871 Neighboring gene mitochondrial translational initiation factor 3 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85003 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85008 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85009 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85011 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85012 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85017 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85030 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:415251-415804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22288 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22291 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15872 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22292 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22293 Neighboring gene uncharacterized LOC124900930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22294 Neighboring gene EXOC3 antisense RNA 1 Neighboring gene exocyst complex component 3

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. 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

  • AHRR intron high CAGE FANTOM5 enhancer
  • H3K4me1 hESC enhancer GRCh37_chr5:413454-413954
  • Neanderthal introgressed variant-containing enhancer experimental_85027

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_050997.2 

    Range
    101..948
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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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    413339..414186
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    406366..407213
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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