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 ... See more...

Aliases for LOC108783648 Gene

Aliases for LOC108783648 Gene

  • NF1-REPc PRS3 Recombination Region 3
  • Neurofibromin 1 Medial Repeat Paralogous Recombination Site 3 Recombination Region 3
  • NF1REP-M PRS3 Recombination Region 3

External Ids for LOC108783648 Gene

Summaries for LOC108783648 Gene

Entrez Gene Summary for LOC108783648 Gene

  • 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]

GeneCards Summary for LOC108783648 Gene

LOC108783648 (NF1-REPc PRS3 Recombination Region) is a Biological Region gene.

Additional gene information for LOC108783648 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOC108783648 Gene

Genomics for LOC108783648 Gene

Genomic Locations for LOC108783648 Gene

Genomic Locations for LOC108783648 Gene
chr17:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC108783648 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC108783648 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC108783648 Gene

Proteins for LOC108783648 Gene

Post-translational modifications for LOC108783648 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC108783648 Gene

Domains & Families for LOC108783648 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC108783648 Gene

Function for LOC108783648 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC108783648 Gene

Localization for LOC108783648 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LOC108783648 Gene

Pathways & Interactions for LOC108783648 Gene

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SuperPathways for LOC108783648 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC108783648 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC108783648 Gene

Drugs & Compounds for LOC108783648 Gene

No Compound Related Data Available

Transcripts for LOC108783648 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC108783648 Gene

No ASD Table

No data available for mRNA/cDNA for LOC108783648 Gene

Expression for LOC108783648 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC108783648 Gene

Orthologs for LOC108783648 Gene

No data available for Orthologs and Evolution for LOC108783648 Gene

Paralogs for LOC108783648 Gene

No data available for Paralogs for LOC108783648 Gene

Variants for LOC108783648 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC108783648 Gene

Disorders for LOC108783648 Gene

No disorders were found for LOC108783648 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC108783648 Gene

Publications for LOC108783648 Gene

  1. Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions. (PMID: 22045503) Zickler AM … Kehrer-Sawatzki H (Human mutation 2012) 3 54
  2. Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). (PMID: 21280148) Messiaen L … Kehrer-Sawatzki H (Human mutation 2011) 3 54
  3. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. (PMID: 20513137) Pasmant E … members of the NF France Network (Human mutation 2010) 3 54
  4. A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2. (PMID: 20506354) Bengesser K … Kehrer-Sawatzki H (Human mutation 2010) 3 54
  5. Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair. (PMID: 19431182) Chuzhanova N … Cooper DN (Human mutation 2009) 3 54

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