U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC125078037 Sharpr-MPRA regulatory region 8458 [ Homo sapiens (human) ]

Gene ID: 125078037, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC125078037
Gene description
Sharpr-MPRA regulatory region 8458
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 K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 5:Enh, candidate strong enhancer, open chromatin). [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 (100223212..100223506)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (94456260..94456554)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene Enah/Vasp-like Neighboring gene uncharacterized LOC124903381 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100605397-100606101 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100604691-100605396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100611023-100611523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9025 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100613080-100613600 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100613601-100614119 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6073 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6074 Neighboring gene uncharacterized LOC124903380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100632407-100632908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100632909-100633408 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6075 Neighboring gene delta 4-desaturase, sphingolipid 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6077 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:100680080-100680580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100684247-100684748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100698662-100699162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100699163-100699663 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:100704543-100705395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6083 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:100711928-100712136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100744670-100745650 Neighboring gene YY1 transcription factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6086 Neighboring gene solute carrier family 25 member 29 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9031 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9033 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:100771717-100772283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6088 Neighboring gene microRNA 6764

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_080173.1 

    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
    100223212..100223506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    94456260..94456554
    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