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    LOC113788289 Sharpr-MPRA regulatory region 12268 [ Homo sapiens (human) ]

    Gene ID: 113788289, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC113788289
    Gene description
    Sharpr-MPRA regulatory region 12268
    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 K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Dec 2018]
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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 (6747108..6747402)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (6502193..6502487)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (6604629..6604923)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 5 Neighboring gene protein tyrosine phosphatase non-receptor type 4 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26957 Neighboring gene microRNA 4659b Neighboring gene microRNA 4659a Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:6611625-6612126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:6612127-6612626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26958 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:6624955-6625205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:6631643-6632143 Neighboring gene uncharacterized LOC124901872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18887 Neighboring gene uncharacterized LOC107986909 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:6662895-6663395

    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_062582.1 

      Range
      101..395
      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
      6747108..6747402
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      142378..142672
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      6502193..6502487
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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