U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC125338469 Sharpr-MPRA regulatory region 8249 [ Homo sapiens (human) ]

Gene ID: 125338469, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC125338469
Gene description
Sharpr-MPRA regulatory region 8249
Gene type
biological region
Feature type(s)
regulatory: silencer
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 repressive element 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 Repressive non-DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, May 2022]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
18p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (3594871..3595165)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (3754399..3754693)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:3575965-3576466 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:3576467-3576966 Neighboring gene DLG associated protein 1 Neighboring gene zinc finger protein 592 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13049 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3595284-3596254 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3596255-3597226 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3601961-3602755 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:3603326-3604525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13053 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3610951-3611462 Neighboring gene DLGAP1 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:3623835-3625034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3625199-3625770 Neighboring gene DLGAP1 antisense RNA 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:3652584-3653783 Neighboring gene uncharacterized LOC105371967

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

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

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_080653.1 

    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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    3594871..3595165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    3754399..3754693
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases