U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC109623491 MS31A repeat instability region [ Homo sapiens (human) ]

Gene ID: 109623491, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC109623491
Gene description
MS31A repeat instability region
Gene type
biological region
Feature type(s)
misc_feature: 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 biological region is found on the p arm of chromosome 7, and contains a highly variable minisatellite region with tandem repeats of about 20 nucleotides in length. Repeats typically contain the sequence CCACCTCCCACAGACACT(GC/GT). Repeat instability due to unequal crossing over between alleles and gene conversion during meiosis has been observed in this region. There is also another minisatellite region, MS31B, in close proximity to this region. This region contains a meiotic recombination hotspot that partially overlaps the variable number tandem repeat. [provided by RefSeq, Feb 2017]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
7p22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (1271210..1273139)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (1380152..1382081)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (1310846..1312775)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene hESC enhancers GRCh37_chr7:1199449-1199961 and GRCh37_chr7:1199962-1200475 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1200476-1200988 Neighboring gene ZFAND2A divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1209085-1210060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1210061-1211034 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17848 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:1220431-1221630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1232959-1233460 Neighboring gene Sharpr-MPRA regulatory region 5475 Neighboring gene VISTA enhancer hs293 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1273513-1274057 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1274230-1275058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1281290-1282188 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1288405-1288950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1294047-1294547 Neighboring gene MPRA-validated peak6338 silencer Neighboring gene UNC homeobox Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1329612-1330486 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1341047-1341548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1360639-1361139 Neighboring gene MPRA-validated peak6340 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17849 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1409793-1410317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17851 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1458534-1459206 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1459207-1459877 Neighboring gene Sharpr-MPRA regulatory region 11952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1468179-1468734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1486489-1486993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1491449-1492000 Neighboring gene Sharpr-MPRA regulatory region 3173 Neighboring gene MICAL like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1497060-1497782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1497783-1498505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17852 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1499929-1500480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1500481-1501032 Neighboring gene MICALL2 divergent transcript

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Microchimerism in twins. Waszak M, et al. Arch Med Sci, 2013 Dec 30. PMID 24482657, Free PMC Article
  2. Minisatellite instability and germline mutation. Bois P, et al. Cell Mol Life Sci, 1999 Sep. PMID 10526579
  3. Repeat instability at human minisatellites arising from meiotic recombination. Jeffreys AJ, et al. EMBO J, 1998 Jul 15. PMID 9670029, Free PMC Article
  4. Analysis of allelic structures at the D7S21 (MS31A) locus in the Japanese, using minisatellite variant repeat mapping by PCR (MVR-PCR). Huang XL, et al. Ann Hum Genet, 1996 Jul. PMID 8865988
  5. DNA variability and parentage testing in captive Waldrapp ibises. Signer EN, et al. Mol Ecol, 1994 Aug. PMID 7921356

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

  • D7S21 repeat instability region
  • minisatellite 31A repeat instability region

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_052849.1 

    Range
    101..2030
    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    1271210..1273139
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    1380152..1382081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases