PARP10

poly(ADP-ribose) polymerase family member 10, the group of Poly(ADP-ribose) polymerases

Basic information

Region (hg38): 8:143977153-144012772

Links

ENSG00000178685 ∙ NCBI:84875 ∙ OMIM:609564 ∙ HGNC:25895 ∙ Uniprot:Q53GL7 ∙ 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 PARP10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PARP10 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			99	14		113
nonsense						0
start loss						0
frameshift		1				1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	1	99	15	1

Variants in PARP10

This is a list of pathogenic ClinVar variants found in the PARP10 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-143977489-T-A		not specified	Uncertain significance (Aug 08, 2022)
8-143977516-A-T		not specified	Uncertain significance (Jan 22, 2024)
8-143977549-C-T		not specified	Likely benign (Apr 14, 2022)
8-143977593-A-T		not specified	Uncertain significance (Jan 16, 2025)
8-143977600-A-C		not specified	Uncertain significance (Nov 10, 2022)
8-143977609-G-T		not specified	Uncertain significance (Oct 04, 2022)
8-143977622-G-T		not specified	Uncertain significance (Dec 28, 2022)
8-143977623-T-C		not specified	Uncertain significance (Dec 20, 2022)
8-143977629-G-A		not specified	Uncertain significance (Mar 16, 2022)
8-143977636-C-G		not specified	Uncertain significance (May 22, 2023)
8-143977715-C-T			Likely benign (Feb 01, 2025)
8-143977729-C-G		not specified	Uncertain significance (Oct 25, 2024)
8-143977737-G-A		not specified	Uncertain significance (May 16, 2022)
8-143977754-G-T		not specified	Uncertain significance (Mar 30, 2024)
8-143977758-G-C		not specified	Uncertain significance (Jan 26, 2022)
8-143977776-T-C		not specified	Uncertain significance (Nov 14, 2024)
8-143977782-G-A		not specified	Uncertain significance (Feb 23, 2023)
8-143977827-G-T		not specified	Uncertain significance (Jun 17, 2024)
8-143977919-A-T		not specified	Uncertain significance (Sep 16, 2021)
8-143977969-G-A		not specified	Uncertain significance (Jan 23, 2024)
8-143978054-G-C		not specified	Uncertain significance (Sep 26, 2022)
8-143978059-A-G		not specified	Uncertain significance (Feb 28, 2023)
8-143982938-G-A			Likely benign (Jul 31, 2018)
8-143982984-C-T		not specified	Likely benign (Dec 13, 2023)
8-143982985-G-A		not specified	Uncertain significance (Aug 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PARP10	protein_coding	protein_coding	ENST00000313028	11	35620

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.82e-8	0.998	125683	1	63	125747	0.000255

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.55	532	643	0.828	0.0000408	6396
Missense in Polyphen		97	164.45	0.58984		1755
Synonymous	1.19	260	286	0.911	0.0000180	2322
Loss of Function	2.82	19	37.7	0.504	0.00000194	399

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000278	0.000271
Ashkenazi Jewish	0.000105	0.0000992
East Asian	0.000626	0.000598
Finnish	0.000238	0.000185
European (Non-Finnish)	0.000263	0.000246
Middle Eastern	0.000626	0.000598
South Asian	0.000468	0.000425
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in cell proliferation. May be required for the maintenance of cell cycle progression. {ECO:0000269|PubMed:15674325, ECO:0000269|PubMed:16455663}.

Recessive Scores

• pRec: 0.103

Intolerance Scores

• loftool: 0.651
• rvis_EVS: 0.43
• rvis_percentile_EVS: 77.35

Haploinsufficiency Scores

• pHI: 0.0672
• hipred: N
• hipred_score: 0.281
• ghis: 0.543

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.748

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Parp10
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: protein ADP-ribosylation;negative regulation of gene expression;regulation of chromatin assembly;negative regulation of NF-kappaB transcription factor activity;NAD biosynthesis via nicotinamide riboside salvage pathway;negative regulation of viral genome replication;negative regulation of fibroblast proliferation;protein poly-ADP-ribosylation;protein auto-ADP-ribosylation;negative regulation of protein K63-linked ubiquitination
• Cellular component: nucleus;nucleolus;cytoplasm;cytosol;intracellular membrane-bounded organelle
• Molecular function: NAD+ ADP-ribosyltransferase activity;protein binding;K63-linked polyubiquitin modification-dependent protein binding