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    LOC112533673 Sharpr-MPRA regulatory region 10813 [ Homo sapiens (human) ]

    Gene ID: 112533673, updated on 17-Sep-2024

    Summary

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    Gene symbol
    LOC112533673
    Gene description
    Sharpr-MPRA regulatory region 10813
    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 non-DNase unmatched - State 7:EnhWF, candidate poised/weak enhancer; flanking open chromatin of candidate enhancers). [provided by RefSeq, May 2018]
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    Genomic context

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    See LOC112533673 in Genome Data Viewer
    Location:
    17q
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75914928..75915222)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76808082..76808376)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73911009..73911303)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 65 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73892749-73893458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73893459-73894166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8997 Neighboring gene mitochondrial ribosomal protein L38 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73906944-73907104 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:73917188-73918387 Neighboring gene Fas binding factor 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:73921784-73922983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12784 Neighboring gene acyl-CoA oxidase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73966147-73966266 Neighboring gene hESC enhancers GRCh37_chr17:73974421-73975004 and GRCh37_chr17:73975005-73975588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73979473-73980302 Neighboring gene TEN1-CDK3 readthrough (NMD candidate) Neighboring gene TEN1 subunit of CST complex Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12788 Neighboring gene uncharacterized LOC124904061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12789

    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_057346.1 

      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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      75914928..75915222
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      76808082..76808376
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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