OARD1

O-acyl-ADP-ribose deacylase 1, the group of Macro domain containing

Basic information

Region (hg38): 6:41033626-41097787

Previous symbols: [ "C6orf130" ]

Links

ENSG00000124596 ∙ NCBI:221443 ∙ OMIM:614393 ∙ HGNC:21257 ∙ Uniprot:Q9Y530 ∙ AlphaFold ∙ 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 OARD1 gene.

• Inborn genetic diseases (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OARD1 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in OARD1

This is a list of pathogenic ClinVar variants found in the OARD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-41033905-C-G		not specified	Uncertain significance (Sep 22, 2021)
6-41033914-C-T		not specified	Uncertain significance (Oct 04, 2022)
6-41033989-G-T		not specified	Uncertain significance (Feb 27, 2023)
6-41033992-C-T		not specified	Uncertain significance (Aug 02, 2021)
6-41034052-G-C		not specified	Uncertain significance (Jan 23, 2023)
6-41034074-C-A		not specified	Uncertain significance (May 13, 2022)
6-41034801-T-C		not specified	Likely benign (Jul 14, 2023)
6-41034846-C-G		not specified	Uncertain significance (Nov 30, 2022)
6-41034932-C-A		not specified	Uncertain significance (Jul 13, 2022)
6-41034951-C-A		not specified	Uncertain significance (Feb 22, 2023)
6-41035005-C-A		not specified	Uncertain significance (Mar 29, 2022)
6-41035035-G-C		not specified	Uncertain significance (Aug 19, 2023)
6-41035037-A-G		not specified	Uncertain significance (Jan 03, 2024)
6-41043007-T-G		not specified	Uncertain significance (Sep 17, 2021)
6-41043055-C-T		not specified	Uncertain significance (Jun 18, 2021)
6-41043056-G-A		not specified	Likely benign (Nov 12, 2021)
6-41043092-T-A		not specified	Likely benign (Jan 18, 2023)
6-41044052-C-T		not specified	Uncertain significance (Aug 17, 2022)
6-41044124-A-G		not specified	Uncertain significance (Dec 16, 2021)
6-41053352-C-A		not specified	Uncertain significance (Jun 29, 2023)
6-41053370-C-T		not specified	Uncertain significance (Dec 13, 2023)
6-41053381-G-A		not specified	Uncertain significance (Sep 29, 2022)
6-41061332-C-T		not specified	Uncertain significance (Oct 26, 2022)
6-41061346-C-G		not specified	Uncertain significance (Dec 17, 2023)
6-41061455-C-T		not specified	Uncertain significance (Aug 03, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OARD1	protein_coding	protein_coding	ENST00000479950	5	64161

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000551	0.719	125010	3	735	125748	0.00294

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.324	75	83.3	0.900	0.00000429	997
Missense in Polyphen		25	29.958	0.83449		352
Synonymous	-1.01	36	29.1	1.24	0.00000162	274
Loss of Function	0.881	6	8.82	0.680	5.13e-7	108

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00148	0.00148
Ashkenazi Jewish	0.00149	0.00149
East Asian	0.0000544	0.0000544
Finnish	0.00559	0.00556
European (Non-Finnish)	0.00291	0.00290
Middle Eastern	0.0000544	0.0000544
South Asian	0.00725	0.00715
Other	0.00229	0.00228

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins. Catalyzes the deacylation of O- acetyl-ADP-ribose, O-propionyl-ADP-ribose and O-butyryl-ADP- ribose, yielding ADP-ribose plus acetate, propionate and butyrate, respectively.

Intolerance Scores

• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.89

Haploinsufficiency Scores

• pHI: 0.417
• hipred: N
• hipred_score: 0.230
• ghis: 0.587

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Oard1

Gene ontology

• Biological process: purine nucleoside metabolic process
• Molecular function: purine nucleoside binding;protein binding;deacetylase activity