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LOC122149308 Sharpr-MPRA regulatory region 679 [ Homo sapiens (human) ]

Gene ID: 122149308, updated on 12-Sep-2024

Summary

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Gene symbol
LOC122149308
Gene description
Sharpr-MPRA regulatory region 679
Gene type
biological region
Feature type(s)
regulatory: enhancer, 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. 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 a 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 23:Low, low signal proximal to active elements) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 23:Low). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC122149308 in Genome Data Viewer
Location:
1q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (173448309..173449244)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (172806466..172807401)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (173417448..173418383)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene TNF superfamily member 4 Neighboring gene uncharacterized LOC100506023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2103 Neighboring gene ribosomal protein L26 pseudogene 11 Neighboring gene centrosomal protein 57kDa pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2110 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2111 Neighboring gene Sharpr-MPRA regulatory region 8886 Neighboring gene PRDX6 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2112 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:173429231-173429730 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:173445479-173446015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2113 Neighboring gene uncharacterized LOC124904456 Neighboring gene MPRA-validated peak459 silencer Neighboring gene Sharpr-MPRA regulatory region 4744 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:173473949-173475148 Neighboring gene peroxiredoxin 6 Neighboring gene solute carrier family 9 member C2 (putative)

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_chr1:173417448-173418172

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_076500.2 

    Range
    101..1036
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    173448309..173449244
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    172806466..172807401
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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