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LOC112081416 Sharpr-MPRA regulatory region 9006 [ Homo sapiens (human) ]

Gene ID: 112081416, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112081416
Gene description
Sharpr-MPRA regulatory region 9006
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 an enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). The same subregion also displayed repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 20:ReprD, Polycomb repression w. Duke DNase/promoter and conservation enriched). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
11q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (69122781..69123610)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (69134653..69135482)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (68890249..68890543)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902701 Neighboring gene uncharacterized LOC124902702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:68807523-68808024 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:68808025-68808524 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:68811813-68812480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3689 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68818804-68819378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:68820529-68821102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5151 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5152 Neighboring gene two pore segment channel 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68833413-68834165 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:68847233-68848432 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68853053-68853554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68853555-68854054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3690 Neighboring gene microRNA 3164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68869613-68870113 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68887863-68888491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68916179-68916678 Neighboring gene uncharacterized LOC338694 Neighboring gene Sharpr-MPRA regulatory region 4947 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68922957-68923884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3692 Neighboring gene Sharpr-MPRA regulatory region 1080 Neighboring gene uncharacterized LOC105369366 Neighboring gene small integral membrane protein 38

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

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:68890263-68891078

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_056477.2 

    Range
    101..930
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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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    69122781..69123610
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    69134653..69135482
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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