LOC106146150 int22h-1 recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC106146150
Gene description: int22h-1 recombination region
Gene type: biological region
Feature type(s): misc_feature: nucleotide_motif
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 similar low-copy repeat regions, the int22h-2 and int22h-3 (intron 22 homologous regions 2 and 3) recombination regions, which are located about 500 kb and 575 kb centromere-distal to this region, respectively. This region is located within intron 22 of the coagulation factor VIII, procoagulant component (F8) gene and overlaps the H2A histone family member B1 (H2AB1), coagulation factor VIII-associated 1 (F8A1), and microRNA 1184-1 (MIR1184-1) genes. The int22h-2 recombination region is in direct orientation to this region, while the int22h-3 recombination region is in reverse orientation relative to this region on the reference genome. A meiotic recombination hotspot is found within this region, and several different inversions that disrupt the coagulation factor VIII, procoagulant component (F8) gene have been observed, resulting in severe hemophilia A. Type I, II, or III inversions are found in about 50% of individuals with severe hemophilia A. Inversions between int22h-1 and int22h-3 result in type I inversions, the most commonly observed inversion. Type II inversions are thought to result from two independent recombination events, the first being an inversion involving int22h-2 and int22h-3, followed by a second inversion between int22h-1 and int22h-2. Type III inversions involve complex rearrangements. NAHR between this region and int22h-2 can result duplications and deletions of the intervening sequence. The duplication event has been associated with cognitive impairment, distinctive facial features, and behavioral problems in males, while some females display cognitive impairment and skewed X chromosome inactivation. The reciprocal deletion has been observed in females, but not in males, suggesting that the deletion could cause embryonic lethality in males. [provided by RefSeq, Mar 2017]
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Genomic context

Location:: Xq28

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (154880819..154890330)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (153117227..153126738)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (154109094..154118605)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

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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

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General gene information

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Other Names

F8 int22h-1 recombination region
factor VIII intron 22 homologous region 1 recombination region
intron 22 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.