LOC107275222 10p13 CCDC3 proximal Alu-mediated recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC107275222
Gene description: 10p13 CCDC3 proximal Alu-mediated recombination region
Gene type: biological region
Feature type(s): misc_recomb: 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 distal Alu-mediated recombination region, located 181 kb centromere-distal to this region, in direct orientation on the reference genome. NAHR events between these regions can lead to deletions of the intervening sequence, and this deletion may be associated with a complex ocular phenotype. The NAHR sub-region is contained within an Alu repeat element, and the repetitive nature of these elements may play an important role in providing substrates for recombination. [provided by RefSeq, Oct 2016]
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Genomic context

Location:: 10p13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (13098711..13099014)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (13113045..13113345)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (13140711..13141014)

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 coiled-coil domain containing 3 proximal 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.