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LOC113219433 greater CFTR locus negative regulatory element CR10 [ Homo sapiens (human) ]

Gene ID: 113219433, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113219433
Gene description
greater CFTR locus negative regulatory element CR10
Gene type
biological region
Feature type(s)
regulatory: enhancer_blocking_element, silencer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This conserved genomic region, which is located in an intron of the ST7 (suppression of tumorigenicity 7) gene in the greater CFTR locus on chromosome 7, can function as both a silencer and an enhancer-blocking element. In transfected K562 cells, it showed both strong silencing and modest enhancer-blocking activity for reporter constructs with a gamma-globin promoter coupled to the HS2 beta-globin enhancer, and also modest enhancer-blocking activity and modest silencing for constructs with an SV40 promoter coupled to the HS2 enhancer. In transfected HeLa cells, this region functioned as a strong enhancer-blocker and a modest silencer for constructs with an SV40 promoter coupled to the HS2 enhancer. [provided by RefSeq, Sep 2018]
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Genomic context

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Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (117159028..117159408)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (118474692..118475072)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (116799082..116799462)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene suppression of tumorigenicity 7 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:116659304-116660503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26541 Neighboring gene microRNA 6132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26542 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:116716803-116717302 Neighboring gene greater CFTR locus negative regulatory element NR4 Neighboring gene uncharacterized LOC124901732 Neighboring gene ST7 antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26544 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:116794856-116795649 Neighboring gene greater CFTR locus negative regulatory element CR11 Neighboring gene ST7 overlapping transcript 3 Neighboring gene uncharacterized LOC105375466

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Detection and characterization of silencers and enhancer-blockers in the greater CFTR locus. Petrykowska HM, et al. Genome Res, 2008 Aug. PMID 18436892, Free PMC Article
  2. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • greater CFTR locus silencer and enhancer-blocking element CR10

NCBI Reference Sequences (RefSeq)

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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_061701.1 

    Range
    101..481
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    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    117159028..117159408
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    118474692..118475072
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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