LOC108783648 NF1-REPc PRS3 recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC108783648
Gene description: NF1-REPc PRS3 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-REPb PRS3 recombination region, which is located a little over 1 Mb centromere-proximal to this region. NAHR between the NF1-REPb PRS3 and the NF1-REPc PRS3 recombination regions can result in deletions of the intervening sequences, including the neurofibromin 1 (NF1) gene, and is known as a type-3 NF1 deletion, causing neurofibromatosis type 1 (NF1), 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. This region is part of a larger low-copy repeat region, known as NF1-REPc that contains multiple recombination regions, including NF1-REPc PRS1, PRS2, PRS3 and UWA160-1. The recombination region represented here contains multiple sub-regions, representing different recombination regions where gene conversion and crossover events occurred. SNP frequency data within NF1-REPc PRS3 suggests the possibility of a weak recombination hotspot. A CGGGGC motif was found in this region, and this motif has been found to be over-represented in the vicinity of gene conversion regions and near micro-deletions and micro-insertions. [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 (32094786..32095848)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (33040610..33041672)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (30421805..30422867)

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

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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-M PRS3 recombination region
neurofibromin 1 medial repeat paralogous recombination site 3 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.