ATXN8OS

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

Basic information

Region (hg38): 13:70107213-70171738

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

Links

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

Phenotypes

GenCC

Source: genCC

• spinocerebellar ataxia type 8 (Moderate), mode of inheritance: AD

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 (8 variants)
• not provided (5 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.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

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 donor/acceptor (+/-2bp)						0
splice region						0
non coding			8	1	4	13
Total	0	0	8	1	4

Variants in ATXN8OS

This is a list of pathogenic ClinVar variants found in the ATXN8OS region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
13-70107236-G-C		not specified	Uncertain significance (Dec 20, 2023)
13-70107241-G-T		not specified	Uncertain significance (Sep 17, 2021)
13-70107276-C-G		not specified	Uncertain significance (Feb 15, 2023)
13-70107276-C-T		not specified	Uncertain significance (Jan 20, 2023)
13-70107328-T-G		KLHL1-related disorder	Benign (Aug 03, 2017)
13-70107350-C-T		not specified	Uncertain significance (Mar 15, 2024)
13-70107455-G-C		not specified	Uncertain significance (Dec 21, 2023)
13-70107456-G-A		not specified	Uncertain significance (Feb 23, 2023)
13-70107462-A-G		not specified	Uncertain significance (Aug 26, 2022)
13-70107465-A-C		not specified	Uncertain significance (Nov 10, 2022)
13-70107466-T-C		KLHL1-related disorder	Benign (Jul 18, 2019)
13-70107517-C-G		KLHL1-related disorder	Benign (Aug 28, 2020)
13-70107545-C-T		not specified	Uncertain significance (Jan 23, 2024)
13-70107601-C-T			Likely benign (Sep 01, 2022)
13-70107605-G-A		not specified	Uncertain significance (Oct 26, 2022)
13-70107609-C-A		KLHL1-related disorder	Likely benign (May 22, 2023)
13-70107612-C-T		not specified	Uncertain significance (Apr 12, 2023)
13-70107613-G-C		KLHL1-related disorder	Likely benign (May 29, 2019)
13-70107614-G-A		not specified	Uncertain significance (Sep 12, 2023)
13-70107689-G-C		not specified	Uncertain significance (Aug 13, 2021)
13-70130745-C-T		ATXN8OS-related disorder	Likely benign (Apr 04, 2023)
13-70131040-C-T			Benign (Jul 01, 2023)
13-70139247-T-C		ATXN8OS-related disorder	Likely benign (Apr 04, 2022)
13-70139294-G-A		ATXN8OS-related disorder	Likely benign (Apr 20, 2023)
13-70139377-ACTACTACTGCTGCTGCTG-A		ATXN8OS-related disorder	Benign (May 26, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

• Cellular component: cytoplasm