U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC112848344 Sharpr-MPRA regulatory region 12076 [ Homo sapiens (human) ]

Gene ID: 112848344, updated on 10-Dec-2024

Summary

Go to the top of the page Help
Gene symbol
LOC112848344
Gene description
Sharpr-MPRA regulatory region 12076
Gene type
biological region
Feature type(s)
regulatory: enhancer, 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 enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). It also displayed weak repressive activity by Sharpr-MPRA in HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Jul 2018]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC112848344 in Genome Data Viewer
Location:
3q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (119557922..119558216)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (122277644..122277938)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (119276769..119277063)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene translocase of inner mitochondrial membrane domain containing 1 Neighboring gene MPRA-validated peak4782 silencer Neighboring gene CD80 molecule Neighboring gene CSRP2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20305 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20306 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20310 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20311 Neighboring gene uncharacterized LOC107986118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:119287249-119287750 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:119297943-119298444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20314 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:119300593-119301792 Neighboring gene ADP-ribosylarginine hydrolase

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_061348.1 

    Range
    101..395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    119557922..119558216
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    122277644..122277938
    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