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LOC113845782 Sharpr-MPRA regulatory region 8383 [ Homo sapiens (human) ]

Gene ID: 113845782, updated on 10-Dec-2024

Summary

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Gene symbol
LOC113845782
Gene description
Sharpr-MPRA regulatory region 8383
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 the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 24:Quies, heterochromatin/dead zone) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 24:Quies). [provided by RefSeq, Dec 2018]
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Genomic context

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See LOC113845782 in Genome Data Viewer
Location:
Xq
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (109472900..109473194)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (107920398..107920692)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (108716129..108716423)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 309, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chrX:108268814-108269381 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:108356812-108357387 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:108387340-108387890 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:108426594-108427161 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:108427729-108428296 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:108483829-108484360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29842 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:108542338-108542938 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:108590655-108591265 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:108617667-108618372 Neighboring gene GAPDH pseudogene 77 Neighboring gene guanylate cyclase 2F, retinal Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:108715324-108715825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29843 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29844 Neighboring gene MFN1 pseudogene 1 Neighboring gene nuclear transport factor 2 like export factor 2

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

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)

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_063186.1 

    Range
    101..395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    109472900..109473194
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    107920398..107920692
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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