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LOC108281180 NF1 intron 3 Alu-mediated recombination region [ Homo sapiens (human) ]

Gene ID: 108281180, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108281180
Gene description
NF1 intron 3 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 region is found within an intron of the neurofibromin 1 (NF1) gene on the q arm of chromosome 17, and is known to undergo Alu-repeat-mediated non-allelic homologous recombination (NAHR), resulting in genomic rearrangements that can include deletions and duplications. Intronic numbering is based on NG_009018.1, which uses NM_001042492.2 as a reference standard. Genomic rearrangements as a result of NAHR can alter the NF1 coding region which can be a cause of neurofibromatosis, a tumor disorder characterized by cafe au lait spots, neurofibromas, and Lisch nodules. [provided by RefSeq, Jul 2016]
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Genomic context

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See LOC108281180 in Genome Data Viewer
Location:
17q11.2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (31161754..31162442)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (32107477..32108166)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (29488772..29489460)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903974 Neighboring gene NF1 (neurofibromin 1) promoter region Neighboring gene MIR4733 host gene Neighboring gene ReSE screen-validated silencer GRCh37_chr17:29430681-29430862 Neighboring gene microRNA 4733 Neighboring gene neurofibromin 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:29471062-29471656 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:29471657-29472252 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:29472253-29472846 Neighboring gene NF1 intron 1 Alu-mediated recombination region Neighboring gene NF1 intron 2 Alu-mediated recombination region Neighboring gene NF1 intron 8 Alu-mediated recombination region Neighboring gene uncharacterized LOC101927057 Neighboring gene oligodendrocyte myelin glycoprotein

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. Decoding NF1 Intragenic Copy-Number Variations. Hsiao MC, et al. Am J Hum Genet, 2015 Aug 6. PMID 26189818, 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)

General gene information

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Other Names

  • neurofibromin 1 intron 3 Alu-mediated region 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.

Genomic

  1. NG_051140.1 

    Range
    101..789
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    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    31161754..31162442
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791803.1 Reference GRCh38.p14 PATCHES

    Range
    240928..241616
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    32107477..32108166
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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