Human Gene ATXN8OS (ENST00000414504.6) from GENCODE V44
  Description: Homo sapiens ATXN8 opposite strand lncRNA (ATXN8OS), antisense RNA. (from RefSeq NR_002717)
RefSeq Summary (NR_002717): This gene is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A TAC/TGC trinucleotide repeat expansion that is incorporated into this gene transcript, but not the KLHL1 transcript, causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript. [provided by RefSeq, Oct 2008].
Gencode Transcript: ENST00000414504.6
Gencode Gene: ENSG00000230223.8
Transcript (Including UTRs)
   Position: hg38 chr13:70,107,213-70,139,429 Size: 32,217 Total Exon Count: 5 Strand: +


Page IndexSequence and LinksPrimersMalaCardsRNA-Seq ExpressionMicroarray Expression
Other SpeciesmRNA DescriptionsOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:70,107,213-70,139,429)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
EnsemblEntrez GeneExonPrimerGencodeHGNCLynx
MalacardsOMIMPubMedBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ATXN8OS
Diseases sorted by gene-association score: spinocerebellar ataxia 8* (716), mitochondrial dna depletion syndrome 7 (14), spinocerebellar ataxia 12 (9), autosomal dominant cerebellar ataxia (7), spinocerebellar ataxia 1 (7), parkinson disease, late-onset (6)
* = Manually curated disease association

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.85 RPKM in Brain - Substantia nigra
Total median expression: 3.36 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AF126749 - Homo sapiens SCA8 mRNA, repeat region.
AF252280 - Homo sapiens KLHL1 antisense RNA, partial sequence.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000414504.1, ENST00000414504.2, ENST00000414504.3, ENST00000414504.4, ENST00000414504.5, NR_002717, uc010aej.1, uc010aej.2
UCSC ID: ENST00000414504.6
RefSeq Accession: NR_002717

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ATXN8OS:
ataxias (Hereditary Ataxia Overview)
sca8 (Spinocerebellar Ataxia Type 8)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.