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LOC106146143 int1h-1 recombination region [ Homo sapiens (human) ]

Gene ID: 106146143, updated on 10-Oct-2023

Summary

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Gene symbol
LOC106146143
Gene description
int1h-1 recombination region
Gene type
biological region
Feature type(s)
misc_recomb: meiotic, non_allelic_homologous
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region, the int1h-2 (intron 1 homologous region 2) recombination region, which is located about 140 kb centromere-distal to this region, in reverse orientation. NAHR between the int1h-1 and int1h-2 recombination regions can result in inversions of the intervening sequence, thereby disrupting the F8 (coagulation factor VIII, procoagulant component) gene. The genomic inversion results in a hybrid transcript, containing exon 1 of the F8 gene and exons of the VBP1 (von Hippel-Lindau binding protein 1) gene. This inversion has been observed in about 5% of individuals with severe hemophilia A. More complex rearrangements involving this region have also been described (see PMID:24696066). Hemophilia A is an X-linked recessive bleeding disorder caused by deficiencies in coagulation factor VIII. A meiotic recombination hotspot has also been mapped to this region. [provided by RefSeq, Oct 2016]
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Genomic context

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Location:
Xq28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (155006107..155007182)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (153242509..153243584)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154234382..154235457)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene coagulation factor VIII Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 31 Neighboring gene ZNF622 pseudogene 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:154195537-154196736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30073 Neighboring gene Sharpr-MPRA regulatory region 4209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21121 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:154255797-154256700 Neighboring gene FUN14 domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:154285543-154286044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30074 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:154299323-154300044 Neighboring gene mature T cell proliferation 1 Neighboring gene C-X9-C motif containing 4

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. Inversion of intron 1 is a rare cause of severe hemophilia A in Indian population. Ghosh K, et al. J Thromb Haemost, 2004 Aug. PMID 15304066
  2. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Bagnall RD, et al. Blood, 2002 Jan 1. PMID 11756167
  3. Two chimaeric transcription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia. Brinke A, et al. Hum Mol Genet, 1996 Dec. PMID 8968748
  4. Identification and characterisation of a novel aberrant pattern of intron 1 inversion with concomitant large insertion and deletion within the F8 gene. You G, et al. Thromb Haemost, 2014 Aug. PMID 24696066
  5. The factor VIII gene intron 1 inversion mutation: prevalence in severe hemophilia A patients in the UK. Cumming AM, et al. J Thromb Haemost, 2004 Jan. PMID 14717992

See all (8) 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

  • F8 intron 1 homologous region 1 recombination region
  • factor VIII intron 1 homologous region 1 recombination region
  • intron 1 homologous region 1 recombination 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_042804.1 

    Range
    101..1176
    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
    155006107..155007182
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    153242509..153243584
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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