LOC108903148 10p13 OPTN distal Alu-mediated recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC108903148
Gene description: 10p13 OPTN distal Alu-mediated recombination region
Gene type: biological region
Feature type(s): 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 is known to undergo Alu-repeat-mediated non-allelic homologous recombination (NAHR) with the 10p13 CCDC3 medial Alu-mediated recombination region located about 95 kb centromere-distal to this region, in direct orientation. NAHR is also observed with the 10p13 OPTN proximal Alu-mediated recombination region, located just centromere-proximal of this region, in direct orientation. NAHR events between these regions can lead to deletions of the intervening sequence, and such deletions are thought to be associated with amyotrophic lateral sclerosis (ALS). NAHR sub-regions are all found within Alu repeat elements, and the repetitive nature of these elements may play an important role in providing substrates for recombination. HapMap data shows an elevated recombination rate in this region for the CEU population. The YRI population also displays increased recombination rates, but over a very wide range of sequences. [provided by RefSeq, Oct 2016]
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Genomic context

Location:: 10p13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (13108545..13110667)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (13122879..13125007)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (13150545..13152667)

Chromosome 10 - NC_000010.11 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

10p13 optineurin distal 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.