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    LOC111982885 Sharpr-MPRA regulatory region 4280 [ Homo sapiens (human) ]

    Gene ID: 111982885, updated on 17-Sep-2024

    Summary

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    Gene symbol
    LOC111982885
    Gene description
    Sharpr-MPRA regulatory region 4280
    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 5:Enh, candidate strong enhancer, open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh). [provided by RefSeq, May 2021]
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    Genomic context

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    See LOC111982885 in Genome Data Viewer
    Location:
    10q
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (96840952..96841246)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (97721864..97722158)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (98600709..98601003)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723665 Neighboring gene CRISPRi-validated cis-regulatory element chr10.3525 Neighboring gene H3K27ac hESC enhancers GRCh37_chr10:98591864-98592578 and GRCh37_chr10:98592579-98593294 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:98593295-98594008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98597029-98597529 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98599567-98600066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98602601-98603100 Neighboring gene microRNA 607 Neighboring gene ligand dependent nuclear receptor corepressor Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 35 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:98744001-98744502 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:98744503-98745002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98761702-98762390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98780664-98781497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98790940-98791510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98791511-98792081 Neighboring gene slit guidance ligand 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:98794025-98794781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98797839-98798339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2666 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:98829552-98830751 Neighboring gene Sharpr-MPRA regulatory region 3512 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:98839846-98840622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98850461-98851078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98860158-98861022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98861023-98861885 Neighboring gene SLIT1 antisense RNA 1

    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_056377.1 

      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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      96840952..96841246
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      97721864..97722158
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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