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LOC112694703 Sharpr-MPRA regulatory region 4335 [ Homo sapiens (human) ]

Gene ID: 112694703, updated on 17-Sep-2024

Summary

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Gene symbol
LOC112694703
Gene description
Sharpr-MPRA regulatory region 4335
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 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 both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC112694703 in Genome Data Viewer
Location:
20q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (32574487..32575566)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (34299992..34301075)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (31162289..31163368)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene nucleolar protein 4 like Neighboring gene uncharacterized LOC101929698 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:31098781-31099176 Neighboring gene VISTA enhancer hs2225 Neighboring gene Sharpr-MPRA regulatory region 5058 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12791 Neighboring gene uncharacterized LOC105372592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31124544-31125515 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31126487-31127458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31128887-31129392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31129393-31129898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31149672-31150323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31151241-31151782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31158183-31158907 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31164325-31165278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31168247-31168946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12795 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12799 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17718 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12801 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31184984-31185484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31185485-31185985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31186003-31186504 Neighboring gene NOL4L divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31189553-31190054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12803 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31193059-31193558 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:31193901-31194067 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31198315-31198930 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31198931-31199544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31206902-31207402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31211056-31211606 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12804 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:31226322-31226509 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31226763-31227262 Neighboring gene chromosome 20 open reading frame 203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31235460-31235960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31235961-31236461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17719 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12805 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31252264-31252832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31252833-31253400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31254622-31255122 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31259991-31260490

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

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31162413-31163368

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_060733.2 

    Range
    101..1180
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    32574487..32575566
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    34299992..34301075
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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