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LOC112997545 Sharpr-MPRA regulatory region 4612 [ Homo sapiens (human) ]

Gene ID: 112997545, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112997545
Gene description
Sharpr-MPRA regulatory region 4612
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 sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. A subregion was 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). In addition, this genomic region was validated as a cis-regulatory element for the GPAT3 (glycerol-3-phosphate acyltransferase 3) gene on chromosome 4 based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells. [provided by RefSeq, Oct 2019]
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Genomic context

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Location:
4q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (83629892..83630615)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (86959971..86960694)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (84551045..84551768)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:84469077-84470276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15543 Neighboring gene ribosomal protein L30 pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 7334 Neighboring gene glycerol-3-phosphate acyltransferase 3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:84539256-84540455 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:84557857-84558358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21689 Neighboring gene VISTA enhancer hs712 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:84702313-84703031 Neighboring gene uncharacterized LOC105377315 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:84771005-84771616 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:84771617-84772228 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:84775825-84777024 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:84843248-84843790 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:84843791-84844331 Neighboring gene NANOG hESC enhancer GRCh37_chr4:84917176-84917884 Neighboring gene long intergenic non-protein coding RNA 2994 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:85048206-85048769 Neighboring gene RNA, U6 small nuclear 774, pseudogene

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. 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

  • CRISPRi-validated cis-regulatory element chr4.2103

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_061538.2 

    Range
    101..824
    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    83629892..83630615
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    86959971..86960694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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