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    LOC121725192 Sharpr-MPRA regulatory region 9369 [ Homo sapiens (human) ]

    Gene ID: 121725192, updated on 12-Sep-2024

    Summary

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    Gene symbol
    LOC121725192
    Gene description
    Sharpr-MPRA regulatory region 9369
    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 non-DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Jun 2021]
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    Genomic context

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    See LOC121725192 in Genome Data Viewer
    Location:
    4q
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (159315917..159316211)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (162666680..162666974)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (160237069..160237363)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene sperm microtubule inner protein 2 Neighboring gene fatty acid binding protein 5 pseudogene 12 Neighboring gene Sharpr-MPRA regulatory region 3178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22089 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:160023381-160024072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15775 Neighboring gene Sharpr-MPRA regulatory region 13777 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15777 Neighboring gene Rap guanine nucleotide exchange factor 2 Neighboring gene Sharpr-MPRA regulatory region 8742 Neighboring gene microRNA 3688-1 Neighboring gene microRNA 3688-2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22090 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:160096538-160097270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22092 Neighboring gene Sharpr-MPRA regulatory region 10828 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:160304254-160304828 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:160304829-160305402 Neighboring gene MPRA-validated peak5139 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:160322475-160323674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22093 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15778 Neighboring gene uncharacterized LOC124900924 Neighboring gene uncharacterized LOC124900926

    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_075664.1 

      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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      159315917..159316211
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      162666680..162666974
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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