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Aliases for LOC108281159 Gene

Aliases for LOC108281159 Gene

  • PATRR17 Recombination Region 3
  • Palindromic AT-Rich Repeat Chromosome 17 Recombination Region 3

External Ids for LOC108281159 Gene

Summaries for LOC108281159 Gene

Entrez Gene Summary for LOC108281159 Gene

  • 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 recombination, forming either translocations or deletions. This region contains a palindromic AT-rich repeat (PATRR) known as PATRR17, and is highly polymorphic. Both long and short versions of the palindromic region have been identified, and are known as 17-L-PATRR and 17-S-PATRR for the long and short versions, respectively. The majority of DNA breaks are thought to form in the loop region of the stem loop. Recombination with another palindromic region found on chromosome 22 (PATRR22) can result in translocation events. Recombination with sequences within the NF1 gene have also been observed, resulting in deletions. Both the translocation and deletion events disrupt the NF1 gene, resulting in neurofibromatosis, a tumor disorder characterized by cafe au lait spots, neurofibromas, and Lisch nodules. Recombination breakpoints from different individuals are reported as breakpoint sub-regions on the record. [provided by RefSeq, Jul 2016]

GeneCards Summary for LOC108281159 Gene

LOC108281159 (PATRR17 Recombination Region) is a Biological Region gene.

Additional gene information for LOC108281159 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LOC108281159 Gene

Genomics for LOC108281159 Gene

Genomic Locations for LOC108281159 Gene

Genomic Locations for LOC108281159 Gene
chr17:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC108281159 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

No data available for GeneHancer (GH) Regulatory Elements and RefSeq DNA sequence for LOC108281159 Gene

Proteins for LOC108281159 Gene

Post-translational modifications for LOC108281159 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC108281159 Gene

Domains & Families for LOC108281159 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for LOC108281159 Gene

Function for LOC108281159 Gene

Animal Model Products

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 LOC108281159 Gene

Localization for LOC108281159 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 LOC108281159 Gene

Pathways & Interactions for LOC108281159 Gene

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SuperPathways for LOC108281159 Gene

No Data Available

Interacting Proteins for LOC108281159 Gene

Gene Ontology (GO) - Biological Process for LOC108281159 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC108281159 Gene

Drugs & Compounds for LOC108281159 Gene

No Compound Related Data Available

Transcripts for LOC108281159 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC108281159 Gene

No ASD Table

No data available for mRNA/cDNA for LOC108281159 Gene

Expression for LOC108281159 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 LOC108281159 Gene

Orthologs for LOC108281159 Gene

No data available for Orthologs and Evolution for LOC108281159 Gene

Paralogs for LOC108281159 Gene

No data available for Paralogs for LOC108281159 Gene

Variants for LOC108281159 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC108281159 Gene

Disorders for LOC108281159 Gene

No disorders were found for LOC108281159 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC108281159 Gene

Publications for LOC108281159 Gene

  1. Snaps and mends: DNA breaks and chromosomal translocations. (PMID: 25913527) Javadekar SM … Raghavan SC (The FEBS journal 2015) 3 58
  2. Decoding NF1 Intragenic Copy-Number Variations. (PMID: 26189818) Hsiao MC … Messiaen L (American journal of human genetics 2015) 3 58
  3. Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene. (PMID: 24760680) Hsiao MC … Messiaen L (Human mutation 2014) 3 58
  4. Chromosomal translocations and palindromic AT-rich repeats. (PMID: 22402448) Kato T … Emanuel BS (Current opinion in genetics & development 2012) 3 58
  5. Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates. (PMID: 16116616) Inagaki H … Kurahashi H (Human mutation 2005) 3 58

No data available for External Links for LOC108281159 Gene

Products for LOC108281159 Gene

Sources for LOC108281159 Gene

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