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    LOC112486220 Sharpr-MPRA regulatory region 14328 [ Homo sapiens (human) ]

    Gene ID: 112486220, updated on 17-Sep-2024

    Summary

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    Gene symbol
    LOC112486220
    Gene description
    Sharpr-MPRA regulatory region 14328
    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. It 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 both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, May 2018]
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    Genomic context

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    See LOC112486220 in Genome Data Viewer
    Location:
    16q
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (88315783..88316077)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (94381699..94381993)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (88349389..88349683)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 469 Neighboring gene Sharpr-MPRA regulatory region 11460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88228172-88228704 Neighboring gene long intergenic non-protein coding RNA 2182 Neighboring gene Sharpr-MPRA regulatory region 6305 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88275942-88276442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88292312-88293058 Neighboring gene uncharacterized LOC124900374 Neighboring gene uncharacterized LOC107984862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88294229-88295094 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:88298191-88299390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88305120-88305626 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88308260-88309065 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88337429-88337930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88338969-88339468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88342417-88342918 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:88366225-88367424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88383362-88384329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88447094-88447638 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88448183-88448726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88463994-88464796 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:88476410-88477609 Neighboring gene uncharacterized LOC112268182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7847 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88499412-88499912 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7848 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88509531-88510396 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:88513905-88514141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7849 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11352 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:88526556-88527059 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88528211-88529126 Neighboring gene zinc finger protein, FOG family member 1 Neighboring gene microRNA 5189

    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

    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)

    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_056864.1 

      Range
      101..395
      Download
      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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      88315783..88316077
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      94381699..94381993
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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