LOC108783653 SUZ12 PRS4 recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC108783653
Gene description: SUZ12 PRS4 recombination region
Gene type: biological region
Feature type(s): misc_recomb: 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 another recombination region, the SUZ12P1 PRS4 recombination region, which is located a little over 1.2 Mb centromere-proximal to this region. NAHR between the SUZ12P1 PRS4 and the SUZ12 PRS4 recombination regions can result in deletions of the intervening sequences, including the neurofibromin 1 (NF1) gene, and is known as a type-2 NF1 deletion, causing neurofibromatosis type 1 (NF1), an autosomal dominant disorder. Unlike other NF1 deletions, type-2 deletions are thought to predominantly occur from mitotic intrachromosomal recombination, since somatic mosaicism is observed in most individuals. This region contains multiple sub-regions, corresponding to different crossover regions. Crossovers both proximal and distal to this region have also been identified in some individuals with type-2 NF1 deletions. [provided by RefSeq, Sep 2016]
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Genomic context

Location:: 17q11.2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (31979138..31981014)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (32925005..32926891)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (30306157..30308033)

Chromosome 17 - NC_000017.11 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

What's a GeneRIF?

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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

SUZ12 polycomb repressive complex 2 subunit paralogous recombination site 4 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.