U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC121627833 Sharpr-MPRA regulatory region 4588 [ Homo sapiens (human) ]

Gene ID: 121627833, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC121627833
Gene description
Sharpr-MPRA regulatory region 4588
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 K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jun 2021]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC121627833 in Genome Data Viewer
Location:
18q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (57603877..57604171)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (57804230..57804524)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (55271109..55271403)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:55104607-55105362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:55106119-55106874 Neighboring gene FOXA motif-containing MPRA enhancer 78 Neighboring gene one cut homeobox 2 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_48194 and experimental_48198 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48219 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13370 Neighboring gene MPRA-validated peak3163 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr18:55230082-55230255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13373 Neighboring gene ferrochelatase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9479 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9481 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9480 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:55288917-55289621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13375 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:55297311-55297811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:55300102-55300950 Neighboring gene asparaginyl-tRNA synthetase 1 Neighboring gene ATP8B1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:55310728-55311239 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:55311240-55311750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13377 Neighboring gene ATPase phospholipid transporting 8B1 Neighboring gene tRNA-Gly (anticodon TCC) 5-1

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. 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_075023.1 

    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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    57603877..57604171
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    57804230..57804524
    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