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LOC121838593 Sharpr-MPRA regulatory region 5436 [ Homo sapiens (human) ]

Gene ID: 121838593, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121838593
Gene description
Sharpr-MPRA regulatory region 5436
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. It 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 K562 erythroleukemia cells (group: K562 Activating DNase matched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). 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:
14q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (58072611..58072905)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (52279538..52279832)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (58539329..58539623)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene solute carrier family 35 member F4 Neighboring gene serine and arginine rich splicing factor 10 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:58181078-58182074 Neighboring gene NANOG hESC enhancer GRCh37_chr14:58220473-58221005 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:58252116-58253315 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:58266137-58266636 Neighboring gene NANOG hESC enhancer GRCh37_chr14:58282822-58283323 Neighboring gene RN7SK pseudogene 99 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34475 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34518 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:58418179-58418679 Neighboring gene armadillo like helical domain containing 4 Neighboring gene polycomb group ring finger 3 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr14:58587185-58587752 Neighboring gene NANOG hESC enhancer GRCh37_chr14:58595390-58595891 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 3

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 8439

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_075956.1 

    Range
    101..395
    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    58072611..58072905
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    52279538..52279832
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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