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LOC122787131 Sharpr-MPRA regulatory region 12614 [ Homo sapiens (human) ]

Gene ID: 122787131, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122787131
Gene description
Sharpr-MPRA regulatory region 12614
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 primed human embryonic stem cells, where it is marked by the H3K4me1 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 K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC122787131 in Genome Data Viewer
Location:
2p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (70138813..70139391)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (70150555..70151133)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (70366229..70366523)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15991 Neighboring gene mitochondrial ribosomal protein L36 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15994 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70350131-70350936 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70350937-70351742 Neighboring gene Sharpr-MPRA regulatory region 3961 Neighboring gene long intergenic non-protein coding RNA 1816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15997 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70365403-70365944 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70368111-70368650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16000 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70376065-70376594 Neighboring gene chromosome 2 open reading frame 42 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16004 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:70418013-70418598 Neighboring gene TIA1 cytotoxic granule associated RNA binding protein Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70474526-70475341 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70475342-70476156

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

  • H3K4me1 hESC enhancer GRCh37_chr2:70365945-70366486

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_076960.2 

    Range
    101..679
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    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    70138813..70139391
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    70150555..70151133
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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