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    LOC121838558 Sharpr-MPRA regulatory region 10753 [ Homo sapiens (human) ]

    Gene ID: 121838558, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC121838558
    Gene description
    Sharpr-MPRA regulatory region 10753
    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 HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 7:EnhWF, candidate poised/weak enhancer, flanking open chromatin of candidate enhancers). [provided by RefSeq, Jul 2021]
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    Genomic context

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    Location:
    12q
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (92099053..92099347)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (92076544..92076838)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (92492829..92493123)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2404 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:92296093-92297292 Neighboring gene uncharacterized LOC105369901 Neighboring gene MPRA-validated peak1883 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr12:92356292-92356496 Neighboring gene long intergenic non-protein coding RNA 1619 Neighboring gene NANOG hESC enhancer GRCh37_chr12:92415340-92415873 Neighboring gene Sharpr-MPRA regulatory region 2068 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:92471461-92472660 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:92501486-92502024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6723 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:92538603-92539139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6725 Neighboring gene BTG1 divergent transcript Neighboring gene BTG anti-proliferation factor 1 Neighboring gene ribosomal protein L21 pseudogene 106

    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_075921.1 

      Range
      101..395
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      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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      92099053..92099347
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      92076544..92076838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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