LOC107303338 3p25 FANCD2 Alu-mediated recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC107303338
Gene description: 3p25 FANCD2 Alu-mediated recombination region
Gene type: biological region
Feature type(s): misc_feature: nucleotide_motif
misc_recomb: meiotic, non_allelic_homologous
mobile_element
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 overlaps the Fanconi anemia complementation group D2 (FANCD2) gene and is known to undergo Alu-repeat-mediated non-allelic homologous recombination (NAHR) with the 3p25 interleukin 1 receptor associated kinase 2 Alu-mediated recombination region and the 3p25 TatD DNase domain containing 2 Alu-mediated recombination region, located about 64 kb and 175 kb downstream of this region on the reference genome, respectively. Recombination between these regions can result in deletion of the intervening sequences, including the von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase (VHL) gene. Deletion of the VHL gene is one cause of Von Hippel-Lindau syndrome, which is inherited in autosomal dominant manner and predisposes individuals to multiple tumors. Deletions of various size have been reported, many of which are the result of Alu-mediated recombination. The severity of the disease is dependent on both the size and location of the deletion. This recombination region is composed of multiple sub-regions, representing different regions in which Alu-mediated recombination has been observed, and also contains an overlapping meiotic recombination hotspot. Recombination events that result in the deletion of VHL have also been reported in regions overlapping the proline rich transmembrane protein 3 (PRRT3) gene, the BRICK1, SCAR/WAVE actin-nucleating complex subunit (BRK1) gene, the Fanconi anemia complementation group D2 (FANCD2) gene, and the von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase (VHL) gene. [provided by RefSeq, Mar 2016]
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Genomic context

Location:: 3p25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (10030947..10078653)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (10022943..10070872)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (10072631..10120337)

Chromosome 3 - NC_000003.12 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

3p25 Fanconi anemia complementation group D2 Alu-mediated 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.