This biological region is found within an intron of the leucine rich repeat containing 27 gene on the q arm of chromosome 10. This region contains a highly variable and highly polymorphic G-rich minisatellite with tandem repeats of about 52 nucleotides in length. Most individuals are heterozygous at this locus, with alleles estimated to range from 0.5 to 20 kb, corresponding to... See more...

Aliases for LOC109648318 Gene

Aliases for LOC109648318 Gene

  • CEB25 Minisatellite Repeat Instability Region 3
  • D10S180 Minisatellite Repeat Instability Region 3

External Ids for LOC109648318 Gene

Summaries for LOC109648318 Gene

Entrez Gene Summary for LOC109648318 Gene

  • This biological region is found within an intron of the leucine rich repeat containing 27 gene on the q arm of chromosome 10. This region contains a highly variable and highly polymorphic G-rich minisatellite with tandem repeats of about 52 nucleotides in length. Most individuals are heterozygous at this locus, with alleles estimated to range from 0.5 to 20 kb, corresponding to about 10-400 repeat units. Germline instability of this region is estimated at about 2-5%. In vitro experiments indicate that this sequence may adopt a G-quadruplex structure. Using a yeast model system, it has been shown that this region displays a high level of gross chromosomal rearrangements (GCR) that is dependent on its orientation and ability to bind the protein encoded by CDC13, the yeast ortholog of the human protection of telomeres 1 (POT1) gene. [provided by RefSeq, Feb 2017]

GeneCards Summary for LOC109648318 Gene

LOC109648318 (CEB25 Minisatellite Repeat Instability Region) is a Biological Region gene.

Additional gene information for LOC109648318 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 LOC109648318 Gene

Genomics for LOC109648318 Gene

Genomic Locations for LOC109648318 Gene

Genomic Locations for LOC109648318 Gene
chr10:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC109648318 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

No data available for GeneHancer (GH) Regulatory Elements and RefSeq DNA sequence for LOC109648318 Gene

Proteins for LOC109648318 Gene

Post-translational modifications for LOC109648318 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC109648318 Gene

Domains & Families for LOC109648318 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC109648318 Gene

Function for LOC109648318 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 LOC109648318 Gene

Localization for LOC109648318 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 LOC109648318 Gene

Pathways & Interactions for LOC109648318 Gene

PathCards logo

SuperPathways for LOC109648318 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC109648318 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC109648318 Gene

Drugs & Compounds for LOC109648318 Gene

No Compound Related Data Available

Transcripts for LOC109648318 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC109648318 Gene

No ASD Table

No data available for mRNA/cDNA for LOC109648318 Gene

Expression for LOC109648318 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 LOC109648318 Gene

Orthologs for LOC109648318 Gene

No data available for Orthologs and Evolution for LOC109648318 Gene

Paralogs for LOC109648318 Gene

No data available for Paralogs for LOC109648318 Gene

Variants for LOC109648318 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 LOC109648318 Gene

Disorders for LOC109648318 Gene

No disorders were found for LOC109648318 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC109648318 Gene

Publications for LOC109648318 Gene

  1. Germline minisatellite mutations in workers occupationally exposed to radiation at the Sellafield nuclear facility. (PMID: 25485533) Tawn EJ … Jonas P (Journal of radiological protection : official journal of the Society for Radiological Protection 2015) 3 54
  2. Short loop length and high thermal stability determine genomic instability induced by G-quadruplex-forming minisatellites. (PMID: 25956747) Piazza A … Nicolas A (The EMBO journal 2015) 3 54
  3. Formation of pearl-necklace monomorphic G-quadruplexes in the human CEB25 minisatellite. (PMID: 22376028) Amrane S … Phan AT (Journal of the American Chemical Society 2012) 3 54
  4. Stimulation of gross chromosomal rearrangements by the human CEB1 and CEB25 minisatellites in Saccharomyces cerevisiae depends on G-quadruplexes or Cdc13. (PMID: 23133402) Piazza A … Nicolas A (PLoS genetics 2012) 3 54
  5. Germline minisatellite mutations in survivors of childhood and young adult cancer treated with radiation. (PMID: 21087171) Tawn EJ … Boice JD (International journal of radiation biology 2011) 3 54

No data available for Mastermind for LOC109648318 Gene

Products for LOC109648318 Gene

Sources for LOC109648318 Gene