U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC125371475 Sharpr-MPRA regulatory region 3154 [ Homo sapiens (human) ]

Gene ID: 125371475, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC125371475
Gene description
Sharpr-MPRA regulatory region 3154
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 Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Repressive DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin). An accessible chromatin subregion was used in a lentiviral ReSE (repressive ability of silencer elements) screen that assays for cell survival based on transcriptional repression of an apoptosis-inducing fusion protein. That subregion was identified as a functional silencer in HepG2 cells. [provided by RefSeq, Jun 2023]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
19p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (10238433..10238727)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (10364538..10364832)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 10 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:10330242-10330742 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:10330743-10331243 Neighboring gene sphingosine-1-phosphate receptor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10340651-10341365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13946 Neighboring gene microRNA 4322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10060 Neighboring gene H3K27ac hESC enhancers GRCh37_chr19:10362245-10362818 and GRCh37_chr19:10362819-10363392 Neighboring gene mitochondrial ribosomal protein L4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13951 Neighboring gene lncRNA inflammatory and mucous response associated, antisense to ICAM1 Neighboring gene Sharpr-MPRA regulatory region 14536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13953 Neighboring gene intercellular adhesion molecule 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13954 Neighboring gene ICAM4 antisense RNA 1

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. Systematic identification of silencers in human cells. Pang B, et al. Nat Genet, 2020 Mar. PMID 32094911, Free PMC Article
  2. 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

General gene information

Go to the top of the page Help

Other Names

  • ReSE screen-validated silencer GRCh37_chr19:10349212-10349401

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_080745.1 

    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    10238433..10238727
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    10364538..10364832
    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