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LOC109580097 mab-21 like 1 repeat instability region [ Homo sapiens (human) ]

Gene ID: 109580097, updated on 10-Oct-2023

Summary

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Gene symbol
LOC109580097
Gene description
mab-21 like 1 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 in the 5' untranslated region of the mab-21 like 1 gene on the q arm of chromosome 13. This region contains a highly polymorphic (CAG)n trinucleotide repeat that displays meiotic and mitotic instability when in alleles with higher repeat sizes. Typical alleles contain about 6-31 CAG repeats, while meiotic instability was observed in alleles with about 45 repeats. [provided by RefSeq, Jan 2017]
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Genomic context

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Location:
13q13.3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (35476297..35476355)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (34694663..34694703)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (36050434..36050492)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene neurobeachin Neighboring gene VISTA enhancer hs1330 Neighboring gene SCAND3 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 11126 Neighboring gene PHB1 pseudogene 13 Neighboring gene Sharpr-MPRA regulatory region 14424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:36049402-36050398 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr13:36052912-36053708 Neighboring gene VISTA enhancer hs1333 Neighboring gene mab-21 like 1 Neighboring gene Sharpr-MPRA regulatory region 14935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5262 Neighboring gene uncharacterized LOC105370161 Neighboring gene uncharacterized LOC124903224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:36270618-36271214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:36271215-36271810

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. Unstable expansion of the CAG trinucleotide repeat in MAB21L1: report of a second pedigree and effect on protein expression. Margolis RL, et al. J Med Genet, 1999 Jan. PMID 9950369, Free PMC Article
  2. Meiotic instability associated with the CAGR1 trinucleotide repeat at 13q13. Potter NT. J Med Genet, 1997 May. PMID 9152839, Free PMC Article
  3. cDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat. Margolis RL, et al. Hum Mol Genet, 1996 May. PMID 8733127
  4. Unstable repeat expansion in major psychiatric disorders: two decades on, is dynamic DNA back on the menu? Vincent JB. Psychiatr Genet, 2016 Aug. PMID 27270050

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

  • MAB21L1 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_052645.1 

    Range
    101..159
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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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    35476297..35476355
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    34694663..34694703
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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