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LOC116183088 hESC enhancers GRCh37_chr7:29832406-29833236 and GRCh37_chr7:29833237-29834066 [ Homo sapiens (human) ]

Gene ID: 116183088, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116183088
Gene description
hESC enhancers GRCh37_chr7:29832406-29833236 and GRCh37_chr7:29833237-29834066
Gene type
biological region
Feature type(s)
regulatory: enhancer, transcriptional_cis_regulatory_region
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 represents a DNase I hypersensitive site (DHS) that was predicted to be an enhancer by the ENCODE (ENCyclopedia Of DNA Elements) project based on various combinations of H3K27 acetylation and binding of p300, GATA1 and RNA polymerase II in K562 erythroleukemia cells. Two subregions were validated as active enhancers by ChIP-STARR-seq in human embryonic stem cells, where both are associated with the OCT4 and NANOG transcription factors and are marked by the H3K4me1 histone modification, and one is additionally marked by H3K27ac. An overlapping subregion was also validated as a high-confidence cis-regulatory element for the WIPF3 (WAS/WASL interacting protein family member 3) gene on chromosome 7 based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells. [provided by RefSeq, Oct 2022]
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Genomic context

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Location:
7p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (29792790..29794450)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (29930592..29932237)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (29833137..29833549)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC646762 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18048 Neighboring gene DPY19L2 pseudogene 3 Neighboring gene microRNA 550a-3 Neighboring gene zinc and ring finger 2 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 13440 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:29823644-29824238 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:29845860-29846769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25802 Neighboring gene WAS/WASL interacting protein family member 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:29894186-29894764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:29922848-29923743 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:29930193-29930732 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:29968955-29969454 Neighboring gene secernin 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:30000281-30001070 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18052 Neighboring gene FKBP14 antisense RNA 1

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. A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens. Gasperini M, et al. Cell, 2019 Jan 10. PMID 30612741, Free PMC Article
  2. An integrated encyclopedia of DNA elements in the human genome. ENCODE Project Consortium. Nature, 2012 Sep 6. PMID 22955616, Free PMC Article
  3. The accessible chromatin landscape of the human genome. Thurman RE, et al. Nature, 2012 Sep 6. PMID 22955617, Free PMC Article
  4. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
  5. 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

  • CRISPRi-validated cis-regulatory element chr7.1421
  • OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:29832406-29833236
  • OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:29833237-29834066

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_066816.2 

    Range
    101..1761
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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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    29792790..29794450
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    29930592..29932237
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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