help  | about  | cite  | software

Gene : 108663996 Homo sapiens

Description  This biological region is found within the coding region of the TATA-box binding protein (TBP) gene on the q arm of chromosome 6, and contains a CAG/CAA trinucleotide repeat. The structure of the repeat is (CAG)3(CAA)3(CAG)x CAA CAG CAA (CAG)y CAA CAG. Expansions of the repeats result in an elongated polyglutamine tract in the encoded protein. Expansions are known to be a cause of spinocerebellar ataxia type 17 (SCA17) an autosomal dominant neurodegenerative disorder. Expanded alleles that are stably transmitted between successive generations contain the CAA CAG CAA interruption between the (CAG)x and (CAG)y repeats, while those displaying size instability during transmission lack the CAA CAG CAA interruption. There is allelic variation at this locus, with most non-disease alleles containing 25-40 CAG/CAA repeats. Alleles with 41-48 CAG/CAA repeats have variable penetrance, while alleles with greater than 49 repeats are fully penetrant. There is an inverse correlation between the length of the CAG/CAA repeat and age of disease onset.0 [provided by RefSeq, Sep 2016]
  • identifiers:
  • 108663996

Genome feature

Region: gene ?
Location: No location information in HumanMine


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

0 SN Ps

0 Cross References

1 Data Sets

0 Homologues

0 Located Features

0 Rna Seq Results