U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC120883621 Sharpr-MPRA regulatory region 7425 [ Homo sapiens (human) ]

Gene ID: 120883621, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC120883621
Gene description
Sharpr-MPRA regulatory region 7425
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 non-DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin), with weaker activation in K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 25:Art, potential CNV or repetitive artifacts). [provided by RefSeq, Mar 2021]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (9142230..9142524)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (8676564..8676859)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (9202289..9202583)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 2 member 5 Neighboring gene small Cajal body-specific RNA 16 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9164158-9165134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 114 Neighboring gene G protein-coupled receptor 157 Neighboring gene MPRA-validated peak53 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9181680-9182180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9182181-9182681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 117 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9196849-9197350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9197351-9197850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 119 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:9211645-9211881 Neighboring gene MIR34A host gene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 120 Neighboring gene microRNA 34a Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9229591-9230092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9230093-9230592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9240951-9241812 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9241813-9242673 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 214 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 215 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9243535-9244395 Neighboring gene long non coding transcriptional activator of miR34a

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

See Variation Viewer (GRCh37.p13)

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_073744.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    9142230..9142524
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    8676564..8676859
    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
Research Materials