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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]
ATXN8OS (ATXN8 Opposite Strand LncRNA) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with ATXN8OS include Spinocerebellar Ataxia 8 and Parkinson Disease, Late-Onset. Among its related pathways are Spinocerebellar ataxia.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH13J070108 | Promoter | 0.8 | EPDnew Ensembl | 612.7 | +1.4 | 1423 | 0.4 | POLR2A EZH2 | ATXN8OS KLHL1 ENSG00000288330 | |
GH13J070248 | Enhancer | 0.9 | Ensembl ENCODE | 11.1 | +142.1 | 142081 | 1.7 | TFE3 GABPA SOX13 FOXA2 TEAD1 FOXP1 SAP130 GABPB1 FOXA1 FOSL2 | HSALNG0097809 KLHL1 ATXN8OS RF00017-1443 | |
GH13J070080 | Enhancer | 0.4 | Ensembl | 11.7 | -27.1 | -27077 | 0.2 | FOXA1 GATA3 RCOR1 | ATXN8OS KLHL1 LUC7L3P1 piR-38352-151 | |
GH13J070088 | Enhancer | 0.2 | Ensembl | 6.9 | -18.3 | -18277 | 0.6 | ATXN8OS LUC7L3P1 KLHL1 piR-38352-151 | ||
GH13J070125 | Enhancer | 0.3 | Ensembl | 0.4 | +18.6 | 18623 | 0.4 | CTCF | ENSG00000288330 KLHL1 ATXN8OS |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Spinocerebellar ataxia |
RNAcentral Transcript ID | Subcategory | Length (nts) | # of Sources | Source Identifiers and Annotations |
---|---|---|---|---|
URS000075CA79_9606 | lncRNA | 1472 | 4 |
HGNC: 10561, RefSeq: NR_002717, LncBook: HSALNT0203415, NONCODE: NONHSAT034251.2, |
URS00000CCBAD_9606 | lncRNA | 1148 | 2 |
Ensembl: ENST00000414504 (view in UCSC) , LncBook: HSALNT0203416, |
URS0000EF4853_9606 | lncRNA | 2188 | 1 |
Ensembl: ENST00000660386 (view in UCSC) , |
URS0000EF72CC_9606 | lncRNA | 1916 | 1 |
Ensembl: ENST00000665905 (view in UCSC) , |
URS0000EEDBEF_9606 | lncRNA | 1752 | 1 |
Ensembl: ENST00000424524 (view in UCSC) , |
SNP ID | Clinical significance and condition | Chr 13 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
790680 | Benign: not provided | 70,107,328(+) | T/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1051815 | CNV | gain | 25217958 |
nsv1053979 | CNV | loss | 25217958 |
nsv1122840 | CNV | deletion | 24896259 |
nsv455967 | CNV | loss | 19166990 |
nsv562220 | CNV | loss | 21841781 |
nsv562221 | CNV | loss | 21841781 |
nsv562222 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinocerebellar ataxia 8 |
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parkinson disease, late-onset |
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autosomal dominant cerebellar ataxia |
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spinocerebellar ataxia 12 |
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spinocerebellar ataxia 1 |
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