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LOC113219446 greater CFTR locus negative regulatory element CR18 [ Homo sapiens (human) ]

Gene ID: 113219446, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113219446
Gene description
greater CFTR locus negative regulatory element CR18
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 nonconserved genomic region, which is located in an intron of the ASZ1 (ankyrin repeat, SAM and basic leucine zipper domain containing 1) gene in the greater CFTR locus on chromosome 7, represents a silencer that was shown to strongly repress an SV40 promoter coupled to the HS2 beta-globin enhancer in transfected K562 and 293T cells. [provided by RefSeq, Sep 2018]
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Genomic context

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See LOC113219446 in Genome Data Viewer
Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (117364729..117364917)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (118680067..118680255)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (117004783..117004971)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900596 Neighboring gene Wnt family member 2 Neighboring gene uncharacterized LOC105375467 Neighboring gene greater CFTR locus negative regulatory element CR15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:116962406-116962980 Neighboring gene greater CFTR locus negative regulatory element CR17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26546 Neighboring gene ankyrin repeat, SAM and basic leucine zipper domain containing 1 Neighboring gene DNase I hypersensitive site -80 kb upstream of CFTR Neighboring gene CFTR -44 kb upstream enhancer Neighboring gene CFTR -35 kb upstream enhancer Neighboring gene uncharacterized LOC105375468 Neighboring gene ANKRD49 pseudogene 4 Neighboring gene DNase I hypersensitive site -20.9 kb upstream of CFTR Neighboring gene greater CFTR locus negative regulatory element NR9

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)

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_061713.1 

    Range
    101..289
    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    117364729..117364917
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    118680067..118680255
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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