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    LOC120977022 Sharpr-MPRA regulatory region 15318 [ Homo sapiens (human) ]

    Gene ID: 120977022, updated on 12-Sep-2024

    Summary

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    Gene symbol
    LOC120977022
    Gene description
    Sharpr-MPRA regulatory region 15318
    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 13:Ctcf, distal CTCF/candidate insulator without open chromatin). [provided by RefSeq, Mar 2021]
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    Genomic context

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    See LOC120977022 in Genome Data Viewer
    Location:
    2q
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (217890466..217890760)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (218375315..218375609)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (218755189..218755483)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene disrupted in renal carcinoma 3 Neighboring gene Sharpr-MPRA regulatory region 7557 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:218661013-218661513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17109 Neighboring gene RPL7L1 pseudogene 9 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:218678100-218679299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:218684858-218685358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:218737749-218738250 Neighboring gene small nucleolar RNA, H/ACA box 115 Neighboring gene tensin 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:218793628-218794497 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:218794829-218795372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:218798027-218798526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:218799196-218799704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:218799705-218800214 Neighboring gene VISTA enhancer hs1764 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:218808487-218809332 Neighboring gene microRNA 6809 Neighboring gene uncharacterized LOC124905960

    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_074018.1 

      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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      217890466..217890760
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      218375315..218375609
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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