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LOC112694691 Sharpr-MPRA regulatory region 2040 [ Homo sapiens (human) ]

Gene ID: 112694691, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112694691
Gene description
Sharpr-MPRA regulatory region 2040
Gene type
biological region
Feature type(s)
regulatory: enhancer
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. A subregion was validated as a functional enhancer 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 Activating DNase matched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss). This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to 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]
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Genomic context

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Location:
20p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (20712786..20713104)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (20771492..20771810)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (20693429..20693723)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:20373434-20374633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:20375428-20375972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:20375973-20376516 Neighboring gene Sharpr-MPRA regulatory region 956 Neighboring gene INSM transcriptional repressor 1 Neighboring gene Ral GTPase activating protein catalytic subunit alpha 2 Neighboring gene NANOG hESC enhancer GRCh37_chr20:20391221-20391855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17611 Neighboring gene VISTA enhancer hs688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17614 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12711 Neighboring gene eukaryotic translation initiation factor 4E family member 2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12712 Neighboring gene uncharacterized LOC105372555 Neighboring gene LLPH pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 607, pseudogene

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. 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

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

  • ATAC-STARR-seq lymphoblastoid active region 17615

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_060721.2 

    Range
    101..419
    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    20712786..20713104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    20771492..20771810
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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