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LOC107032825 origin of replication in 5' region of FMR1 [ Homo sapiens (human) ]

Gene ID: 107032825, updated on 10-Oct-2023

Summary

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Gene symbol
LOC107032825
Gene description
origin of replication in 5' region of FMR1
Gene type
biological region
Feature type(s)
rep_origin
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 multiple sites of initiation of DNA replication, which together form a broad zone of replication overlapping a trinucleotide repeat region in the first exon of the FMR1 (Fragile X messenger ribonucleoprotein 1) gene. Increased copy number of the trinucleotide repeats is known to cause Fragile X Syndrome. The usage and directionality of different replication origins may result in either repeat expansion or contraction via replication slippage. In addition, increased trinucleotide repeat copy number may shift usage of the replication origins in this region. [provided by RefSeq, Apr 2022]
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Genomic context

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Location:
chromosome: X
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (147910965..147913868)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (146175593..146178526)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (146992483..146995386)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 382, pseudogene Neighboring gene origin of replication upstream of FMR1 Neighboring gene uncharacterized LOC105373349 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:146965512-146965690 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:146980170-146980670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30007 Neighboring gene FMR1 antisense RNA 1 Neighboring gene fragile site, folic acid type, rare, fra(X)(q27.3) A Neighboring gene fragile X messenger ribonucleoprotein 1 Neighboring gene FMR1 neighbor Neighboring gene RNA, 5S ribosomal pseudogene 524 Neighboring gene ferritin heavy chain 1 pseudogene 8

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. Association of fragile X syndrome with delayed replication of the FMR1 gene. Hansen RS, et al. Cell, 1993 Jul 2. PMID 8324827
  2. Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome. Yudkin D, et al. Hum Mol Genet, 2014 Jun 1. PMID 24419320, Free PMC Article
  3. An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene. Gray SJ, et al. Mol Cell Biol, 2007 Jan. PMID 17101793, Free PMC Article
  4. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Fu YH, et al. Cell, 1991 Dec 20. PMID 1760838
  5. The DNA replication program is altered at the FMR1 locus in fragile X embryonic stem cells. Gerhardt J, et al. Mol Cell, 2014 Jan 9. PMID 24289922, Free PMC Article

See all (10) 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)

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_046340.1 

    Range
    101..3004
    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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    147910965..147913868
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    146175593..146178526
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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