LOC106113036 NF1-REPa PRS1 recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC106113036
Gene description: NF1-REPa PRS1 recombination region
Gene type: biological region
Feature type(s): misc_feature: nucleotide_motif
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 NF1-REPc PRS1 recombination region, which is located a little over 1.4 Mb centromere-distal of this region. NAHR between the NF1-REPa PRS1 and the NF1-REPc PRS1 recombination regions can result in deletions of the intervening sequences, including the neurofibromin 1 (NF1) gene. This region is part of a larger low-copy repeat region, NF1-REPa, which contains multiple distinct recombination regions, NF1-REPa PRS1 and PRS2. Low-copy repeats sharing high sequence identity have also been observed in a more distal location on chromosome 17 (NF1REP-D) and on chromosome 19 (NF1REP-E19). The 1.4 Mb deletion that can occur as a result of recombination between the NF1-REPa and NF1-REPc recombination regions has been observed in about 5-22% of individuals with neurofibromatosis type 1, an autosomal dominant disorder. Those individuals with the neurofibromin 1 microdeletion caused by NAHR have early age onset and are at higher risk for development of malignant peripheral nerve sheath tumors (MPNSTs) than individuals with intragenic neurofibromin 1 mutations. The recombination region represented here contains multiple sub-regions, representing different strand exchange regions (SERs), named SER1-SER11. A majority of NAHR events occur in the SER4-7 sub-regions. Population data studies indicate that there are meiotic recombination hotspots in the region, and PRDM9 A and PRDM9 C binding motifs are found in this region. Most NAHR events are of maternal origin. [provided by RefSeq, Sep 2016]
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Genomic context

Location:: 17q11.2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (30646572..30651773)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (31591230..31596426)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (28973590..28978791)

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

NF1REP-P1-51 PRS1 recombination region
neurofibromin 1 proximal repeat paralogous recombination site 1 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.