U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC122861307 Sharpr-MPRA regulatory region 14998 [ Homo sapiens (human) ]

Gene ID: 122861307, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC122861307
Gene description
Sharpr-MPRA regulatory region 14998
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 is marked by the H3K27ac and H3K4me1 histone modifications. 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 non-DNase unmatched - State 7:EnhWF, candidate poised/weak enhancer, flanking open chromatin of candidate enhancers). [provided by RefSeq, Jan 2023]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC122861307 in Genome Data Viewer
Location:
2q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (231388137..231388732)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (231872587..231873182)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (232253149..232253443)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene armadillo repeat containing 9 Neighboring gene ribosomal protein S28 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17280 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:232181499-232182000 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:232182001-232182500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232196977-232197934 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:232201084-232201584 Neighboring gene Sharpr-MPRA regulatory region 9410 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232233755-232234401 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232234402-232235049 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232235050-232235696 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232235697-232236344 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:232240900-232241463 Neighboring gene microRNA 4777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:232256876-232257459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:232258043-232258625 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:232258626-232259207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12425 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:232261821-232263020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:232263273-232263820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:232263821-232264366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:232266008-232266553 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:232275119-232275724 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:232275725-232276329 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12426 Neighboring gene uncharacterized LOC124907997 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:232278424-232279184 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

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

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232252848-232253388

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_077122.2 

    Range
    101..696
    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    231388137..231388732
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    231872587..231873182
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases