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LOC107305685 2q12.3 distal recombination region [ Homo sapiens (human) ]

Gene ID: 107305685, updated on 10-Oct-2023

Summary

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Gene symbol
LOC107305685
Gene description
2q12.3 distal 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 region has been shown to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region, the 2q13 recombination region, located about 1.3 Mb downstream of this region, in direct orientation on the reference genome. Deletion of the intervening sequence as a result of NAHR between these recombination regions has been observed. This region overlaps an Alu element. [provided by RefSeq, Mar 2016]
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Genomic context

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Location:
2q12.3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (108521416..108521695)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (108982095..108982374)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (109137872..109138151)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene small integral membrane protein 12 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr2:109064602-109065584 and GRCh37_chr2:109065585-109066566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109066652-109067152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109067153-109067653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16343 Neighboring gene GRIP and coiled-coil domain containing 2 Neighboring gene GCC2 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 7983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11849 Neighboring gene LIM zinc finger domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16344 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:109191556-109192512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16345 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:109210352-109211551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16348 Neighboring gene NANOG hESC enhancer GRCh37_chr2:109225689-109226190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16349 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109252737-109253311 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16350 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:109271409-109272023 Neighboring gene Sharpr-MPRA regulatory region 6630 Neighboring gene LIMS1 antisense RNA 1 Neighboring gene cytochrome c oxidase subunit 7B, mitochondrial-like

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. NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Dittwald P, et al. Genome Res, 2013 Sep. PMID 23657883, Free PMC Article

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)

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_046765.1 

    Range
    101..380
    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    108521416..108521695
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    108982095..108982374
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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