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LOC107048984 origin of replication in 5' region of AFF2/FMR2 [ Homo sapiens (human) ]

Gene ID: 107048984, updated on 10-Oct-2023

Summary

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Gene symbol
LOC107048984
Gene description
origin of replication in 5' region of AFF2/FMR2
Gene type
biological region
Feature type(s)
rep_origin
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region represents a late-firing origin of DNA replication in the 5' region of the AFF2 (AF4/FMR2 family member 2) gene. The peak of nascent strand synthesis occurs in the vicinity of a trinucleotide repeat whose expansion results in Fragile X E syndrome. [provided by RefSeq, Jan 2016]
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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 (148500443..148500606)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (146765029..146765192)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (147581963..147582126)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene HAX1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30008 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:147507788-147508643 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:147522255-147522928 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:147522929-147523603 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:147582797-147583674 Neighboring gene RPL7L1 pseudogene 11 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:147636485-147637684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30009 Neighboring gene fragile site, folic acid type, rare, fra(X)(q28) E Neighboring gene ALF transcription elongation factor 2 Neighboring gene RN7SK pseudogene 267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:148228003-148228504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:148228505-148229004 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:148264804-148265396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30014 Neighboring gene uncharacterized LOC122319696

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. A late origin of DNA replication in the trinucleotide repeat region of the human FMR2 gene. Chastain PD 2nd, et al. Cell Cycle, 2006 Apr. PMID 16582587

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_046348.1 

    Range
    101..264
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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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    148500443..148500606
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    146765029..146765192
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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