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LOC121053187 Sharpr-MPRA regulatory region 1360 [ Homo sapiens (human) ]

Gene ID: 121053187, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121053187
Gene description
Sharpr-MPRA regulatory region 1360
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. The major subregion was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive human embryonic stem cells, where it associates with the OCT4 and NANOG transcription factors and is marked by the H3K27ac histone modification. Another subregion was validated as an enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
4q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (78720095..78720799)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (82055689..82056393)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (79641249..79641543)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:79566785-79567984 Neighboring gene long intergenic non-protein coding RNA 1094 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 13 Neighboring gene CRISPRi-validated cis-regulatory element chr4.1973 Neighboring gene CRISPRi-validated cis-regulatory element chr4.1974 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:79627314-79627946 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr4:79635971-79636917 Neighboring gene uncharacterized LOC101928893 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:79639668-79640239 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:79640240-79640810 Neighboring gene CRISPRi-validated cis-regulatory element chr4.1978 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:79643097-79643668 Neighboring gene CRISPRi-validated cis-regulatory element chr4.1979 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15511 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21649 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21650 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21651 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:79696740-79697370 Neighboring gene ribosomal protein S21 pseudogene 3 Neighboring gene BMP2K divergent transcript

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. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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

  • OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:79641383-79641953

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_074127.2 

    Range
    101..805
    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    78720095..78720799
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    82055689..82056393
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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