U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC124625826 Sharpr-MPRA regulatory region 11910 [ Homo sapiens (human) ]

Gene ID: 124625826, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC124625826
Gene description
Sharpr-MPRA regulatory region 11910
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 includes an enhancer that was validated by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in primed human embryonic stem cells, where it 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 K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 2:TssF, active promoter, flanking TSS/CpG islands). This locus also includes three accessible chromatin subregions, two of which were validated as silencers and one as an enhancer based on their ability to repress or activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC124625826 in Genome Data Viewer
Location:
11q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (100686658..100687662)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (100695856..100696860)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:100540441-100540942 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:100540943-100541442 Neighboring gene uncharacterized LOC124902736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:100549285-100549786 Neighboring gene ARHGAP42 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5428 Neighboring gene peptidylprolyl isomerase A pseudogene 43 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:100569215-100569715 Neighboring gene Rho GTPase activating protein 42 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:100596358-100597237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5429 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:100618800-100619666 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:100620727-100621926 Neighboring gene Sharpr-MPRA regulatory region 13184 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:100698323-100699048 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:100699049-100699774 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:100699775-100700498 Neighboring gene Sharpr-MPRA regulatory region 13718 Neighboring gene RN7SK pseudogene 115 Neighboring gene uncharacterized LOC105369457

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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, Free PMC Article
  3. 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

General gene information

Go to the top of the page Help

Other Names

  • ATAC-STARR-seq lymphoblastoid active region 5427
  • ATAC-STARR-seq lymphoblastoid silent region 3856
  • ATAC-STARR-seq lymphoblastoid silent region 3857
  • H3K27ac hESC enhancer GRCh37_chr11:100557620-100558330

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_079427.3 

    Range
    101..1105
    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    100686658..100687662
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    100695856..100696860
    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