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    LOC124403963 Sharpr-MPRA regulatory region 13978 [ Homo sapiens (human) ]

    Gene ID: 124403963, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC124403963
    Gene description
    Sharpr-MPRA regulatory region 13978
    Gene type
    biological region
    Feature type(s)
    regulatory: silencer
    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 repressive element by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 18:Pol2, Pol2 specific locations, majority in genes but substantial portion in intergenic locations) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 23:Low, low signal proximal to active elements). This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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    Genomic context

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    Location:
    10q
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (61867930..61868224)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (62724788..62725082)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (63627689..63627983)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902535 Neighboring gene MPRA-validated peak958 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr10:63403079-63403697 Neighboring gene ciliary associated calcium binding coiled-coil 1 Neighboring gene CRISPRi-validated cis-regulatory element chr10.1925 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:63541146-63542345 Neighboring gene long intergenic non-protein coding RNA 2625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2393 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:63661148-63661650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3400 Neighboring gene AT-rich interaction domain 5B Neighboring gene NANOG hESC enhancer GRCh37_chr10:63746020-63746682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3402 Neighboring gene uncharacterized LOC124902435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3408 Neighboring gene Sharpr-MPRA regulatory region 11943 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:63810242-63811441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3412 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2396 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3415 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13605 Neighboring gene rhotekin 2 Neighboring gene NANOG hESC enhancer GRCh37_chr10:64024383-64024884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2397 Neighboring gene long intergenic non-protein coding RNA 2621

    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
    2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, 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)

    General gene information

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    Other Names

    • ATAC-STARR-seq lymphoblastoid silent region 2392

    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_079042.1 

      Range
      101..395
      Download
      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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      61867930..61868224
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      62724788..62725082
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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    Other Literature Sources
    Molecular Biology Databases