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LOC113875031 Sharpr-MPRA regulatory region 10462 [ Homo sapiens (human) ]

Gene ID: 113875031, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113875031
Gene description
Sharpr-MPRA regulatory region 10462
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 HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Dec 2018]
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Genomic context

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Location:
Xp
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48713078..48713372)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48123559..48123853)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48571469..48571763)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20820 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20821 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29608 Neighboring gene SUV39H1 histone lysine methyltransferase Neighboring gene RNA, U6 small nuclear 1056, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29611 Neighboring gene CRISPRi-FlowFISH-validated GATA1 regulatory element 1 Neighboring gene Sharpr-MPRA regulatory region 5097 Neighboring gene glyoxalase domain containing 5

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_063219.1 

    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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    48713078..48713372
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    48123559..48123853
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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