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LOC113219444 greater CFTR locus negative regulatory element CR9 [ Homo sapiens (human) ]

Gene ID: 113219444, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113219444
Gene description
greater CFTR locus negative regulatory element CR9
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 conserved genomic region, which overlaps the 3' exon of the CAPZA2 (capping actin protein of muscle Z-line subunit alpha 2) gene in the greater CFTR locus on chromosome 7, represents a silencer that was shown to modestly repress both an SV40 promoter and a gamma-globin promoter coupled to the HS2 beta-globin enhancer in transfected K562 cells. [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 (116918230..116918944)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (118233396..118234110)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (116558284..116558998)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing pseudogene Neighboring gene capping actin protein of muscle Z-line subunit alpha 2 Neighboring gene uncharacterized LOC124901857 Neighboring gene Sharpr-MPRA regulatory region 2110 Neighboring gene uncharacterized LOC105375465 Neighboring gene CRISPRi-validated cis-regulatory element chr7.4218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18564 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:116593626-116594549 Neighboring gene RNA, 5S ribosomal pseudogene 239 Neighboring gene ST7 antisense RNA 1 Neighboring gene ST7 overlapping transcript 4 Neighboring gene suppression of tumorigenicity 7

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 CR9

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_061711.1 

    Range
    101..815
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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
    116918230..116918944
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    118233396..118234110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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