OTUD6B-AS1

OTUD6B antisense RNA 1 (head to head), the group of Antisense RNAs

Basic information

Region (hg38): 8:91059318-91070583

Links

ENSG00000253738 ∙ NCBI:100506365 ∙ ∙ HGNC:50466 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OTUD6B-AS1 gene.

• not provided (5 variants)
• Inborn genetic diseases (2 variants)
• Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (2 variants)
• not specified (1 variants)
• OTUD6B-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OTUD6B-AS1 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	1		6	2		9
Total	1	0	6	2	0

Variants in OTUD6B-AS1

This is a list of pathogenic ClinVar variants found in the OTUD6B-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-91070310-A-G			Uncertain significance (Jun 28, 2019)
8-91070335-C-T		Inborn genetic diseases	Uncertain significance (Jan 10, 2022)
8-91070346-A-G		not specified • Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies • OTUD6B-related disorder	Conflicting classifications of pathogenicity (Apr 08, 2024)
8-91070370-G-A		Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	Uncertain significance (Mar 03, 2018)
8-91070382-G-A		Inborn genetic diseases	Uncertain significance (Mar 02, 2023)
8-91070399-G-C		OTUD6B-related disorder	Uncertain significance (Oct 23, 2023)
8-91070403-G-T			Pathogenic (Nov 27, 2021)
8-91070409-C-G			Uncertain significance (Nov 02, 2021)
8-91070427-C-G		OTUD6B-related disorder	Uncertain significance (Mar 20, 2023)
8-91070465-A-G			Likely benign (Mar 01, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP