U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC125048440 Sharpr-MPRA regulatory region 4460 [ Homo sapiens (human) ]

Gene ID: 125048440, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC125048440
Gene description
Sharpr-MPRA regulatory region 4460
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 19:H4K20, transcription, primarily H4K20me1, more intronic). [provided by RefSeq, Apr 2022]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
14q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (73743606..73743900)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (67951145..67951439)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene dynein axonemal light chain 1 Neighboring gene Sharpr-MPRA regulatory region 2817 Neighboring gene RNA, U6 small nuclear 240, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36567 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36575 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5913 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74185518-74186128 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:74190512-74191711 Neighboring gene PNMA family member 1 Neighboring gene mitotic deacetylase associated SANT domain protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5915 Neighboring gene uncharacterized LOC124903345 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74205959-74206474 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74206989-74207504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74207505-74208018 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36600 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74213165-74213679 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74213680-74214193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8710 Neighboring gene Sharpr-MPRA regulatory region 1827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8713 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5917 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:74228329-74228851 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:74228852-74229373 Neighboring gene microRNA 4505 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:74241609-74242167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5921 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8718 Neighboring gene MIDEAS antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:74262355-74263554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8719 Neighboring gene small nucleolar RNA U13

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_080136.1 

    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
    73743606..73743900
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    67951145..67951439
    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