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LOC113788284 Sharpr-MPRA regulatory region 3603 [ Homo sapiens (human) ]

Gene ID: 113788284, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113788284
Gene description
Sharpr-MPRA regulatory region 3603
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 is marked by the H3K4me1 histone modification. 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 both HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 12:CtcfO). [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 (42171651..42172226)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (42445972..42446544)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (42029169..42029463)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27298 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:41998279-41998506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19153 Neighboring gene adaptor related protein complex 3 subunit mu 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42029745-42030244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42036916-42037740 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27302 Neighboring gene plasminogen activator, tissue type Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42044581-42045152 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42045153-42045723 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42065584-42066102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42066103-42066621 Neighboring gene small nucleolar RNA U13

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

  • H3K4me1 hESC enhancer GRCh37_chr8:42029243-42029744

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_062577.2 

    Range
    101..676
    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
    42171651..42172226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    42445972..42446544
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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