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LOC110599579 CEB36 minisatellite repeat instability region [ Homo sapiens (human) ]

Gene ID: 110599579, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110599579
Gene description
CEB36 minisatellite repeat instability region
Gene type
biological region
Feature type(s)
misc_feature: nucleotide_motif, repeat_instability_region
misc_recomb: meiotic
repeat_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region contains a highly variable minisatellite region found within an intron of the adhesion G protein-coupled receptor A1 (ADGRA1) gene on the q arm of chromosome 10. The minisatellite is a GC-rich variable number tandem repeat (VNTR) with repeat units of 42 nucleotides in length that are similar, but not all identical. Instability at this locus is observed in germline cells. This region also contains a meiotic recombination hotspot. [provided by RefSeq, Jul 2017]
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Genomic context

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Location:
10q26.3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (133110573..133112375)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (134060291..134068141)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (134924077..134925879)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268067 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:134826346-134827545 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134843359-134843972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134844587-134845200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134863995-134864618 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr10:134871141-134872133 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134877264-134877766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134885135-134885816 Neighboring gene MPRA-validated peak1134 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134902582-134903344 Neighboring gene ADGRA1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134911870-134912370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134915449-134916424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134917665-134918227 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134918228-134918789 Neighboring gene adhesion G protein-coupled receptor A1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134940316-134941027 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134941028-134941740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134953797-134954355 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134963792-134964598 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134964599-134965404 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134965405-134966211 Neighboring gene ribosomal protein L5 pseudogene 28 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134974094-134974683 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134974684-134975274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134979051-134979562 Neighboring gene kinase non-catalytic C-lobe domain containing 1 Neighboring gene uncharacterized LOC105378574

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. Elevated minisatellite mutation rate in the post-chernobyl families from ukraine. Dubrova YE, et al. Am J Hum Genet, 2002 Oct. PMID 12226793, Free PMC Article
  2. Germline minisatellite mutations in workers occupationally exposed to radiation at the Sellafield nuclear facility. Tawn EJ, et al. J Radiol Prot, 2015 Mar. PMID 25485533
  3. Germline minisatellite mutations in survivors of childhood and young adult cancer treated with radiation. Tawn EJ, et al. Int J Radiat Biol, 2011 Mar. PMID 21087171, Free PMC Article
  4. A pilot study examining germline minisatellite mutations in the offspring of Danish childhood and adolescent cancer survivors treated with radiotherapy. Rees GS, et al. Int J Radiat Biol, 2006 Mar. PMID 16638712, Free PMC Article
  5. No evidence of radiation effect on mutation rates at hypervariable minisatellite loci in the germ cells of atomic bomb survivors. Kodaira M, et al. Radiat Res, 2004 Oct. PMID 15447048

See all (8) citations in PubMed

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

  • D10S473 minisatellite repeat instability region

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_055443.1 

    Range
    101..1903
    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    133110573..133112375
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    134060291..134068141
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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