This region is a highly variable minisatellite region on the q arm of chromosome 20. This unstable variable number tandem repeat (VNTR) has a repeat unit length of 34 nucleotides, with a tandem array of similar, but non-identical repeats. The consensus repeat motif is TCTCTAYAGGMCAYGAGRGTKGACAGTGAGGGGG,relative to the minus strand of the reference genome, with Y, R, M, and K be... See more...

Aliases for LOC110594337 Gene

Aliases for LOC110594337 Gene

  • B6.7 Minisatellite Repeat Instability Region 3

External Ids for LOC110594337 Gene

Summaries for LOC110594337 Gene

Entrez Gene Summary for LOC110594337 Gene

  • This region is a highly variable minisatellite region on the q arm of chromosome 20. This unstable variable number tandem repeat (VNTR) has a repeat unit length of 34 nucleotides, with a tandem array of similar, but non-identical repeats. The consensus repeat motif is TCTCTAYAGGMCAYGAGRGTKGACAGTGAGGGGG,relative to the minus strand of the reference genome, with Y, R, M, and K being pyrimidine, purine, amino and keto, according to the IUPAC nucleotide code. Sequences within the consensus repeat sequence shares similarity to the PRDM9 A binding motif (LD hotspot motif), differing by just a single nucleotide from the 13-mer consensus motif, CCNCCNTNNCCNC, compared to the plus strand of the reference genome. There is a meiotic recombination hotspot that overlaps the repeat region. This region shows very high heterozygosity, and has alleles ranging from six repeat units to greater than 500 repeat units. Differences in allele structures are seen amongst different populations. Instability at this locus is observed in germline cells, with a much lower incidence of instability in somatic cells. Repeat instability is seen in both maternal and paternal germlines, with higher instability seen in alleles with larger repeat arrays. The very high heterozygosity of this region and its high mutation rate makes it useful for forensic analyses and monitoring of mutation rates. [provided by RefSeq, Jul 2017]

GeneCards Summary for LOC110594337 Gene

LOC110594337 (B6.7 Minisatellite Repeat Instability Region) is a Biological Region gene.

Additional gene information for LOC110594337 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 LOC110594337 Gene

Genomics for LOC110594337 Gene

Genomic Locations for LOC110594337 Gene

Genomic Locations for LOC110594337 Gene
chr20:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC110594337 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC110594337 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC110594337 Gene

Proteins for LOC110594337 Gene

Post-translational modifications for LOC110594337 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC110594337 Gene

Domains & Families for LOC110594337 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC110594337 Gene

Function for LOC110594337 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 LOC110594337 Gene

Localization for LOC110594337 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 LOC110594337 Gene

Pathways & Interactions for LOC110594337 Gene

PathCards logo

SuperPathways for LOC110594337 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC110594337 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC110594337 Gene

Drugs & Compounds for LOC110594337 Gene

No Compound Related Data Available

Transcripts for LOC110594337 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC110594337 Gene

No ASD Table

No data available for mRNA/cDNA for LOC110594337 Gene

Expression for LOC110594337 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 LOC110594337 Gene

Orthologs for LOC110594337 Gene

No data available for Orthologs and Evolution for LOC110594337 Gene

Paralogs for LOC110594337 Gene

No data available for Paralogs for LOC110594337 Gene

Variants for LOC110594337 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 LOC110594337 Gene

Disorders for LOC110594337 Gene

No disorders were found for LOC110594337 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC110594337 Gene

Publications for LOC110594337 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. DNA recombination. Recombination initiation maps of individual human genomes. (PMID: 25395542) Pratto F … Camerini-Otero RD (Science (New York, N.Y.) 2014) 3 54
  3. Paternal lifestyle as a potential source of germline mutations transmitted to offspring. (PMID: 23538710) Linschooten JO … Godschalk RW (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2013) 3 54
  4. Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations. (PMID: 21750151) Berg IL … Jeffreys AJ (Proceedings of the National Academy of Sciences of the United States of America 2011) 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 LOC110594337 Gene

Products for LOC110594337 Gene

Sources for LOC110594337 Gene