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LOC121294074 Sharpr-MPRA regulatory region 10012 [ Homo sapiens (human) ]

Gene ID: 121294074, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121294074
Gene description
Sharpr-MPRA regulatory region 10012
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. The major subregion was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in primed human embryonic stem cells, where it associates with the OCT4 and NANOG transcription factors and is marked by the H3K27ac and H3K4me1 histone modifications. Another subregion was 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 DNase matched - State 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
8p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (20268638..20269193)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (20533714..20534269)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (20126149..20126443)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18971 Neighboring gene ATPase H+ transporting V1 subunit B2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27064 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:20087870-20088370 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:20091705-20092214 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:20092215-20092724 Neighboring gene RNA, U6 small nuclear 892, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:20106535-20107076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:20107077-20107620 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:20112843-20113026 Neighboring gene leucine zipper tumor suppressor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27065 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:20129385-20129920 Neighboring gene LZTS1 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:20186237-20186853 Neighboring gene uncharacterized LOC105379314 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:20210567-20211189 Neighboring gene NANOG hESC enhancer GRCh37_chr8:20212340-20212863

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

  • OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:20126169-20126704

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_074316.2 

    Range
    101..656
    Download
    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    20268638..20269193
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    20533714..20534269
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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