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Aliases for LOC109280160 Gene

Aliases for LOC109280160 Gene

  • FRA11B Repeat Instability Region 3
  • Fragile Site, Folic Acid Type, Rare, Fra(11)(Q23.3) Repeat Instability Region 3
  • Cbl Proto-Oncogene Repeat Instability Region 3
  • CBL Repeat Instability Region 3

External Ids for LOC109280160 Gene

Summaries for LOC109280160 Gene

Entrez Gene Summary for LOC109280160 Gene

  • This biological region is known as FRA11B, and is found within the 5' untranslated region of the Cbl proto-oncogene (CBL) gene on the q arm of chromosome 11, and contains a CGG/CCG trinucleotide repeat. Somatic variability at this locus has been observed, and expansions of this repeat cause fragility at this folate-sensitive fragile site. Expansions resulting in repeats with a copy number of up to 800 have been observed. Experiments suggest that expansion of the trinucleotide repeat may cause hypermethylation of the DNA in this region. Chromosomal breakpoints in Jacobsen syndrome deletions have been mapped close to this region. [provided by RefSeq, Dec 2016]

GeneCards Summary for LOC109280160 Gene

LOC109280160 (FRA11B Repeat Instability Region) is a Biological Region gene. Diseases associated with LOC109280160 include Jacobsen Syndrome.

Additional gene information for LOC109280160 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 LOC109280160 Gene

Genomics for LOC109280160 Gene

Genomic Locations for LOC109280160 Gene

Genomic Locations for LOC109280160 Gene
chr11:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC109280160 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC109280160 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC109280160 Gene

Proteins for LOC109280160 Gene

Post-translational modifications for LOC109280160 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC109280160 Gene

Domains & Families for LOC109280160 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 LOC109280160 Gene

Function for LOC109280160 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 LOC109280160 Gene

Localization for LOC109280160 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 LOC109280160 Gene

Pathways & Interactions for LOC109280160 Gene

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SuperPathways for LOC109280160 Gene

No Data Available

Interacting Proteins for LOC109280160 Gene

Gene Ontology (GO) - Biological Process for LOC109280160 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC109280160 Gene

Drugs & Compounds for LOC109280160 Gene

No Compound Related Data Available

Transcripts for LOC109280160 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC109280160 Gene

No ASD Table

No data available for mRNA/cDNA for LOC109280160 Gene

Expression for LOC109280160 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 LOC109280160 Gene

Orthologs for LOC109280160 Gene

No data available for Orthologs and Evolution for LOC109280160 Gene

Paralogs for LOC109280160 Gene

No data available for Paralogs for LOC109280160 Gene

Variants for LOC109280160 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 LOC109280160 Gene

Disorders for LOC109280160 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC109280160 Gene - From: GeneCards

Disorder Aliases PubMed IDs
jacobsen syndrome
  • jbs
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC109280160: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC109280160 Gene

Publications for LOC109280160 Gene

  1. Genome instability in the context of chromatin structure and fragile sites. (PMID: 21175410) Bartova E … Kozubek S (Critical reviews in eukaryotic gene expression 2010) 3 58
  2. Human chromosome fragility. (PMID: 18078840) Lukusa T … Fryns JP (Biochimica et biophysica acta 2008) 3 58
  3. Common fragile site FRA11G and rare fragile site FRA11B at 11q23.3 encompass distinct genomic regions. (PMID: 17063465) Fechter A … Schwab M (Genes, chromosomes & cancer 2007) 3 58
  4. Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage. (PMID: 10767345) Jones C … Cotter F (Human molecular genetics 2000) 3 58
  5. Fragile sites and minisatellite repeat instability. (PMID: 10873391) Handt O … Richards RI (Molecular genetics and metabolism 2000) 3 58

No data available for External Links for LOC109280160 Gene

Products for LOC109280160 Gene

Sources for LOC109280160 Gene

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