PARG

poly(ADP-ribose) glycohydrolase

Basic information

Region (hg38): 10:49818279-49970203

Links

ENSG00000227345 ∙ NCBI:8505 ∙ OMIM:603501 ∙ HGNC:8605 ∙ Uniprot:Q86W56 ∙ 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 PARG gene.

• not_specified (51 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PARG gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003631.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			51			51
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	51	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PARG	protein_coding	protein_coding	ENST00000402038	14	104391

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.392	0.608	124336	0	2	124338	0.00000804

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.11	147	239	0.616	0.0000130	3187
Missense in Polyphen		57	122.41	0.46565		1649
Synonymous	0.619	78	85.3	0.915	0.00000485	899
Loss of Function	4.02	7	31.2	0.224	0.00000200	368

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000109	0.00000888
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Poly(ADP-ribose) synthesized after DNA damage is only present transiently and is rapidly degraded by poly(ADP-ribose) glycohydrolase (PubMed:23102699). PARG acts both as an endo- and exoglycosidase, releasing PAR of different length as well as ADP- ribose monomers (PubMed:23102699). Required for retinoid acid- dependent gene transactivation, probably by dePARsylating histone demethylase KDM4D, allowing chromatin derepression at RAR- dependent gene promoters (PubMed:23102699). Involved in the synthesis of ATP in the nucleus, together with PARP1, NMNAT1 and NUDT5 (PubMed:27257257). Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257). {ECO:0000269|PubMed:23102699, ECO:0000269|PubMed:27257257}.
• Pathway: DNA Repair;POLB-Dependent Long Patch Base Excision Repair;Resolution of AP sites via the multiple-nucleotide patch replacement pathway;Resolution of Abasic Sites (AP sites);Base Excision Repair (Consensus)

Recessive Scores

• pRec: 0.135

Haploinsufficiency Scores

• pHI: 0.160
• ghis: 0.552

Essentials

• gene_indispensability_pred: E
• gene_indispensability_score: 0.658

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Parg
• Phenotype: endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; cellular phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); embryo phenotype; immune system phenotype

Gene ontology

• Biological process: carbohydrate metabolic process;regulation of DNA repair;nucleotide-sugar metabolic process;ATP generation from poly-ADP-D-ribose
• Cellular component: nucleus;nucleoplasm;cytoplasm;mitochondrial matrix;cytosol;intracellular membrane-bounded organelle
• Molecular function: poly(ADP-ribose) glycohydrolase activity;protein binding