PARP3

poly(ADP-ribose) polymerase family member 3, the group of Poly(ADP-ribose) polymerases

Basic information

Region (hg38): 3:51942344-51948867

Previous symbols: [ "ADPRTL3" ]

Links

ENSG00000041880 ∙ NCBI:10039 ∙ OMIM:607726 ∙ HGNC:273 ∙ Uniprot:Q9Y6F1 ∙ 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 PARP3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PARP3 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				1	1	2
missense			34	5	3	42
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	35	6	5

Variants in PARP3

This is a list of pathogenic ClinVar variants found in the PARP3 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-51943369-C-T			Benign (Apr 19, 2018)
3-51943413-C-T		not specified	Uncertain significance (Sep 01, 2021)
3-51943443-C-T		not specified	Uncertain significance (May 03, 2023)
3-51943470-A-T		not specified	Uncertain significance (Jul 16, 2021)
3-51943476-G-T			Benign (May 30, 2018)
3-51943496-C-T			Benign (May 30, 2018)
3-51943522-G-A		not specified	Uncertain significance (Jul 14, 2021)
3-51943531-G-A		not specified	Likely benign (Jun 28, 2022)
3-51944131-G-A		not specified	Uncertain significance (Jun 22, 2023)
3-51944175-C-G		not specified	Likely benign (Dec 28, 2023)
3-51944191-A-G		not specified	Likely benign (May 04, 2022)
3-51944213-G-A		not specified	Uncertain significance (Dec 15, 2023)
3-51944397-T-C		not specified	Uncertain significance (Jan 03, 2022)
3-51944450-T-C		not specified	Uncertain significance (Oct 20, 2023)
3-51944495-C-T		not specified	Uncertain significance (Aug 23, 2021)
3-51944536-C-T			Likely benign (Jun 01, 2022)
3-51944538-A-G		not specified	Uncertain significance (Dec 21, 2022)
3-51944587-G-A			Benign (May 18, 2018)
3-51944850-C-T		not specified	Uncertain significance (Aug 17, 2022)
3-51944869-G-A		not specified	Uncertain significance (Feb 28, 2023)
3-51945005-G-T		not specified	Uncertain significance (Mar 31, 2023)
3-51945042-G-A		not specified	Uncertain significance (Jun 21, 2021)
3-51945046-G-A		not specified	Uncertain significance (Aug 01, 2022)
3-51945069-C-G		not specified	Uncertain significance (Dec 28, 2023)
3-51945088-G-T		not specified	Uncertain significance (Dec 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PARP3	protein_coding	protein_coding	ENST00000398755	11	6523

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.97e-14	0.0573	124383	2	427	124812	0.00172

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.310	301	317	0.951	0.0000184	3546
Missense in Polyphen		91	93.222	0.97617		1128
Synonymous	0.644	117	126	0.927	0.00000748	1022
Loss of Function	0.585	23	26.2	0.877	0.00000129	297

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00778	0.00776
Ashkenazi Jewish	0.0000993	0.0000993
East Asian	0.000278	0.000278
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.00107	0.00105
Middle Eastern	0.000278	0.000278
South Asian	0.00556	0.00547
Other	0.000665	0.000659

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in the base excision repair (BER) pathway, by catalyzing the poly(ADP-ribosyl)ation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism. This modification follows DNA damages and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks. May link the DNA damage surveillance network to the mitotic fidelity checkpoint. Negatively influences the G1/S cell cycle progression without interfering with centrosome duplication. Binds DNA. May be involved in the regulation of PRC2 and PRC3 complex-dependent gene silencing. {ECO:0000269|PubMed:16924674}.
• Pathway: Base excision repair - Homo sapiens (human);Necroptosis - Homo sapiens (human);Apoptosis - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.0853

Intolerance Scores

• loftool: 0.947
• rvis_EVS: 0.8
• rvis_percentile_EVS: 87.69

Haploinsufficiency Scores

• pHI: 0.0324
• hipred: N
• hipred_score: 0.437
• ghis: 0.451

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.124

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Parp3
• Phenotype: homeostasis/metabolism 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)

Zebrafish Information Network

• Gene name: parp3
• Affected structure: pectoral fin
• Phenotype tag: abnormal
• Phenotype quality: aplastic

Gene ontology

• Biological process: telomere maintenance;DNA repair;double-strand break repair;protein ADP-ribosylation;positive regulation of DNA ligation;regulation of mitotic spindle organization;protein poly-ADP-ribosylation;negative regulation of telomerase RNA reverse transcriptase activity;protein localization to site of double-strand break
• Cellular component: nucleus;nucleolus;centriole;site of double-strand break
• Molecular function: catalytic activity;NAD+ ADP-ribosyltransferase activity;protein ADP-ribosylase activity