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    LOC121587582 Sharpr-MPRA regulatory region 4282 [ Homo sapiens (human) ]

    Gene ID: 121587582, updated on 12-Sep-2024

    Summary

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    Gene symbol
    LOC121587582
    Gene description
    Sharpr-MPRA regulatory region 4282
    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, Jun 2021]
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    Genomic context

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    See LOC121587582 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 (27975103..27975397)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (28916508..28916802)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (26302129..26302423)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:26208991-26209681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8330 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:26215109-26216060 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:26216061-26217012 Neighboring gene LYR motif containing 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8331 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:26241118-26241431 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:26242505-26243362 Neighboring gene long intergenic non-protein coding RNA 1992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11914 Neighboring gene uncharacterized LOC124903962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:26284095-26284956 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:26286038-26286747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11916 Neighboring gene CRISPRi-validated cis-regulatory element chr17.1404 Neighboring gene MPRA-validated peak2774 silencer Neighboring gene uncharacterized LOC124900402 Neighboring gene small nucleolar RNA SNORA70

    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_074870.1 

      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
      27975103..27975397
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      28916508..28916802
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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