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    LOC112163596 Sharpr-MPRA regulatory region 3992 [ Homo sapiens (human) ]

    Gene ID: 112163596, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC112163596
    Gene description
    Sharpr-MPRA regulatory region 3992
    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 both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 1:Tss). [provided by RefSeq, Mar 2018]
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    Genomic context

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    See LOC112163596 in Genome Data Viewer
    Location:
    12q
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (49130226..49130520)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49092398..49092692)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (49524009..49524303)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369759 Neighboring gene GATA motif-containing MPRA enhancer 293 Neighboring gene desert hedgehog signaling molecule Neighboring gene limb development membrane protein 1 like Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:49503799-49504338 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49505196-49505376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49521461-49521962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49521963-49522462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4425 Neighboring gene TUBA1B antisense RNA 1 Neighboring gene tubulin alpha 1b Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49564043-49564236 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49567207-49567412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49578576-49579076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49579077-49579577 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:49582542-49583133 Neighboring gene tubulin alpha 1a

    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_056579.1 

      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
      49130226..49130520
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      49092398..49092692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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