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    LOC121627926 Sharpr-MPRA regulatory region 4412 [ Homo sapiens (human) ]

    Gene ID: 121627926, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC121627926
    Gene description
    Sharpr-MPRA regulatory region 4412
    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 non-DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jun 2021]
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    Genomic context

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    See LOC121627926 in Genome Data Viewer
    Location:
    21q
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (45138674..45138968)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (43500926..43501220)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (46558589..46558883)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46422723-46423264 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:46431794-46432993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46436709-46437209 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46438875-46439748 Neighboring gene P38 inhibited cutaneous squamous cell carcinoma associated lincRNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46448329-46448828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46451141-46451808 Neighboring gene uncharacterized LOC105372836 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:46470000-46471199 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46471769-46472400 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46484683-46485516 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13399 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46513297-46513797 Neighboring gene signal sequence receptor subunit 4 pseudogene 1 Neighboring gene adenosine deaminase RNA specific B1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46553428-46553928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46553929-46554429 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46569001-46569596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46571268-46572124 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46580749-46581394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46622742-46623359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46626875-46627374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46640206-46640772 Neighboring gene U2 spliceosomal RNA Neighboring gene long intergenic non-protein coding RNA 334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46675963-46676514 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:46699476-46700675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13401 Neighboring gene protein O-fucosyltransferase 2

    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_075117.1 

      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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      45138674..45138968
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      43500926..43501220
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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