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LOC112272559 Sharpr-MPRA regulatory region 8154 [ Homo sapiens (human) ]

Gene ID: 112272559, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112272559
Gene description
Sharpr-MPRA regulatory region 8154
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 unmatched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Mar 2018]
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Genomic context

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See LOC112272559 in Genome Data Viewer
Location:
14q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (77023546..77023840)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (71233289..71233583)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (77489889..77490183)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:77435045-77435585 Neighboring gene RNA, 7SL, cytoplasmic 356, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77437073-77437574 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77444395-77444896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77446989-77447488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77459676-77460176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77460177-77460677 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:77461395-77461903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8785 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77467477-77468181 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77473739-77474268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:77479792-77480588 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:77480589-77481385 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:77490390-77490615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5963 Neighboring gene interferon regulatory factor 2 binding protein like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:77496104-77496624 Neighboring gene uncharacterized LOC105370579 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:77499197-77499746

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_056697.1 

    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
    77023546..77023840
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    71233289..71233583
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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