DGUOK-AS1

DGUOK antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:73927769-73986660

Links

ENSG00000237883 ∙ ∙ ∙ HGNC:43441 ∙ ∙ ∙ 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 DGUOK-AS1 gene.

• not provided (78 variants)
• Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) (24 variants)
• not specified (11 variants)
• Inborn genetic diseases (7 variants)
• Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (6 variants)
• Mitochondrial DNA depletion syndrome (3 variants)
• DGUOK-Related Disorders (3 variants)
• Mitochondrial DNA depletion syndrome 3 (hepatocerebral type);Portal hypertension, noncirrhotic;Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (1 variants)
• Portal hypertension, noncirrhotic (1 variants)
• Portal hypertension, noncirrhotic, 1;Mitochondrial DNA depletion syndrome 3 (hepatocerebral type);Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (1 variants)
• DGUOK-related condition (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DGUOK-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)			1	1		2
splice region						0
non coding	12	7	38	33	7	97
Total	12	7	39	34	7

Highest pathogenic variant AF is 0.0000460

Variants in DGUOK-AS1

This is a list of pathogenic ClinVar variants found in the DGUOK-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
2-73938729-G-A			Benign (Jun 14, 2018)
2-73938891-C-T		DGUOK-related disorder	Likely benign (Feb 20, 2023)
2-73938893-T-C			Likely benign (Sep 04, 2023)
2-73938895-C-G			Likely benign (Jul 14, 2023)
2-73938896-T-C			Likely benign (Nov 02, 2023)
2-73938897-A-G			Likely benign (Aug 16, 2023)
2-73938900-T-G			Uncertain significance (Jul 17, 2023)
2-73938903-A-C			Likely benign (Nov 09, 2023)
2-73938903-A-G			Likely benign (May 09, 2018)
2-73938904-T-C		DGUOK-related disorder	Uncertain significance (Jul 18, 2022)
2-73938906-G-A			Conflicting classifications of pathogenicity (Jan 17, 2024)
2-73938909-G-A			Likely pathogenic (Nov 24, 2023)
2-73938919-A-G		Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Uncertain significance (Mar 21, 2016)
2-73938922-C-G		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	Uncertain significance (Apr 27, 2019)
2-73938922-C-T		Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) • not specified	Conflicting classifications of pathogenicity (Aug 26, 2024)
2-73938926-G-A		not specified • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Benign (Feb 01, 2024)
2-73938929-T-C			Likely benign (Mar 08, 2023)
2-73938937-TACTC-T		Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Pathogenic (-)
2-73938938-A-G			Likely benign (Feb 16, 2023)
2-73938940-T-C		Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Likely pathogenic (-)
2-73938941-C-G			Likely benign (Aug 29, 2023)
2-73938943-C-G		not specified	Conflicting classifications of pathogenicity (May 04, 2022)
2-73938943-C-T			Uncertain significance (Feb 28, 2022)
2-73938944-G-A			Likely benign (Nov 04, 2023)
2-73938953-C-A		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	Pathogenic (Aug 18, 2016)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP