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    LOC120908906 Sharpr-MPRA regulatory region 2293 [ Homo sapiens (human) ]

    Gene ID: 120908906, updated on 12-Sep-2024

    Summary

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    Gene symbol
    LOC120908906
    Gene description
    Sharpr-MPRA regulatory region 2293
    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, Mar 2021]
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    Genomic context

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    See LOC120908906 in Genome Data Viewer
    Location:
    1q
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (214002506..214002800)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (213242048..213242342)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (214175849..214176143)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene PROX1 antisense RNA 1 Neighboring gene U2 spliceosomal RNA Neighboring gene long intergenic non-protein coding RNA 538 Neighboring gene Sharpr-MPRA regulatory region 2902 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:214156796-214157482 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:214157483-214158168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:214161693-214162196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:214162197-214162700 Neighboring gene prospero homeobox 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:214203321-214204216 Neighboring gene long intergenic non-protein coding RNA 2775 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:214275569-214276768 Neighboring gene VISTA enhancer hs2357 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1810 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:214366166-214366732 Neighboring gene uncharacterized LOC124904509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2530 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:214453457-214454022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1812

    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_073939.1 

      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      214002506..214002800
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      213242048..213242342
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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