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LOC110599578 CEB42 minisatellite repeat instability region [ Homo sapiens (human) ]

Gene ID: 110599578, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110599578
Gene description
CEB42 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 maestro heat like repeat family member 5 (MROH5) gene on the q arm of chromosome 8. The minisatellite is a GC-rich variable number tandem repeat (VNTR) with repeat units of 41 nucleotides in length that are similar, but not all identical. Instability at this locus is observed in germline cells, with a paternal bias in the mutation rate. This region also contains a meiotic recombination hotspot. [provided by RefSeq, Jul 2017]
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Genomic context

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Location:
8q24.3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (141490543..141494608)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (142617947..142622748)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (142500643..142504708)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375789 Neighboring gene maestro heat like repeat family member 5 (gene/pseudogene) Neighboring gene small nucleolar RNA SNORD5 Neighboring gene heterogeneous nuclear ribonucleoprotein A1pseudogene 38 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142501938-142502812 Neighboring gene uncharacterized LOC124902031 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142517660-142518180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19593 Neighboring gene uncharacterized LOC105375791

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. Genetic variation and relationships at six VNTR loci in two distinct sample populations in Brazil. Ramos CF, et al. Ann Hum Biol, 2004 Nov-Dec. PMID 15799233
  2. Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation. Giraudeau F, et al. J Med Genet, 2001 Feb. PMID 11288712, Free PMC Article
  3. Reference database of hypervariable genetic markers of Argentina: application for molecular anthropology and forensic casework. Sala A, et al. Electrophoresis, 1999 Jun. PMID 10435440
  4. Minisatellites: mutability and genome architecture. Vergnaud G, et al. Genome Res, 2000 Jul. PMID 10899139
  5. DNA recombination. Recombination initiation maps of individual human genomes. Pratto F, et al. Science, 2014 Nov 14. PMID 25395542, Free PMC Article

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

  • D8S358 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_055442.1 

    Range
    101..4166
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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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    141490543..141494608
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791786.1 Reference GRCh38.p14 PATCHES

    Range
    157097..161162
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    142617947..142622748
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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