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LOC108660404 ataxin 10 repeat instability region [ Homo sapiens (human) ]

Gene ID: 108660404, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108660404
Gene description
ataxin 10 repeat instability region
Gene type
biological region
Feature type(s)
misc_feature: repeat_instability_region
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 biological region is found within an intron of the ataxin 10 (ATXN10) gene on the q arm of chromosome 22, and contains an ATTCT pentanucleotide repeat. Expansions of this repeat are known to be a cause of spinocerebellar ataxia type 10 (SCA10), an autosomal dominant progressive disorder. There is allelic variation at this locus, with 10-32 repeats for non-disease alleles and 280-4500 repeats for pathogenic alleles, but with variable penetrance for individuals with intermediate expansion ranges (280-850 repeats). There is an inverse correlation between expansion size and age of disease onset, with higher instability amongst paternally transmitted alleles. Repeat instability has also been observed in somatic tissues. [provided by RefSeq, Jan 2017]
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Genomic context

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Location:
22q13.31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (45795355..45795424)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (46280065..46280134)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (46191235..46191304)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ataxin 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46158531-46159124 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr22:46164292-46164865 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13887 Neighboring gene microRNA 4762 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13888 Neighboring gene origin of replication for ATXN10 repeat region Neighboring gene TRNT1 pseudogene 2 Neighboring gene VISTA enhancer hs1559 Neighboring gene uncharacterized LOC105373071 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46263223-46263797 Neighboring gene uncharacterized LOC107985535 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46275792-46276707 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46276708-46277622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46291489-46292372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46292373-46293254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:46331075-46331575 Neighboring gene Wnt family member 7B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:46358809-46359309 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46362863-46363759 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:46364456-46365655

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. Spinocerebellar ataxia type 10 in Chinese Han. Wang K, et al. Neurol Genet, 2015 Oct. PMID 27066563, Free PMC Article
  2. Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection. Teive HA, et al. Arq Neuropsiquiatr, 2015 Aug. PMID 26222367, Free PMC Article
  3. Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease. Leonardi L, et al. J Neurol, 2014 Sep. PMID 24935856, Free PMC Article
  4. Transgenic models of spinocerebellar ataxia type 10: modeling a repeat expansion disorder. McFarland KN, et al. Genes (Basel), 2012 Sep. PMID 24533179, Free PMC Article
  5. Expansion of the Spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestry. Bushara K, et al. PLoS One, 2013. PMID 24278426, Free PMC Article

See all (36) 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

  • ATXN10 repeat instability region
  • SCA10 repeat instability region
  • spinocerebellar ataxia type 10 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_051538.1 

    Range
    101..170
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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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    45795355..45795424
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    46280065..46280134
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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