U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC108510655 enhancer-blocking element 22-3 upstream of CCDC188 [ Homo sapiens (human) ]

Gene ID: 108510655, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC108510655
Gene description
enhancer-blocking element 22-3 upstream of CCDC188
Gene type
biological region
Feature type(s)
regulatory: enhancer_blocking_element, insulator
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic region is located in the upstream regulatory region of the CCDC188 (coiled-coil domain containing 188) gene on chromosome 22. It was identified as a putative enhancer-blocking chromatin insulator based on strong CTCF association by ChIP-seq analysis in K562 erythroleukemia cells. It was validated as a functional enhancer-blocking element based on its ability to block activity of an enhancer when positioned between the enhancer and a promoter in a lentiviral reporter assay. In addition, this element also functioned as a barrier insulator based on its ability to reduce retroviral vector genotoxicity in a mouse in vivo tumor formation model. [provided by RefSeq, Aug 2016]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
22q11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (20157040..20157277)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (20536084..20536321)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (20144563..20144800)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20119547-20120200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20125107-20125706 Neighboring gene zinc finger DHHC-type palmitoyltransferase 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13481 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13482 Neighboring gene coiled-coil domain containing 188 Neighboring gene Sharpr-MPRA regulatory region 11686 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20164314-20165307 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:20166736-20166900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20174169-20174706 Neighboring gene CRISPRi-validated cis-regulatory element chr22.431 Neighboring gene long intergenic non-protein coding RNA 2891 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20190821-20191416 Neighboring gene uncharacterized LOC105372862 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20195420-20195950 Neighboring gene long intergenic non-protein coding RNA 896

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. Identification and characterization of enhancer-blocking insulators to reduce retroviral vector genotoxicity. Groth AC, et al. PLoS One, 2013. PMID 24098520, Free PMC Article
  2. Widespread plasticity in CTCF occupancy linked to DNA methylation. Wang H, et al. Genome Res, 2012 Sep. PMID 22955980, 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)

General gene information

Go to the top of the page Help

Other Names

  • chromatin insulator 22-3

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_051353.1 

    Range
    101..338
    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    20157040..20157277
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    20536084..20536321
    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