ATXN8OS

ATXN8 opposite strand lncRNA, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Previous symbols: [ "SCA8", "KLHL1AS" ]

Links

ENSG00000230223 ∙ NCBI:6315 ∙ OMIM:603680 ∙ HGNC:10561 ∙ Uniprot:P0DMR3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Spinocerebellar ataxia 8	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Neurologic; Ophthalmologic	10192387; 14756671; 16804541; 19680539; 20301445; 20403608
The causative expansion variant is located in both the ATXN8OS 3' UTR and a polyglutamine ORF in ATXN8

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ATXN8OS gene.

• Inborn genetic diseases (4 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ATXN8OS gene is commonly pathogenic or not.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice variant						0
non coding			4	1	1	6
Total	0	0	4	1	1

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

• Cellular component: cytoplasm