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.

not_specified (166 variants)
not_provided (8 variants)
Developmental_delay (1 variants)

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. These statistics are base on transcript: NM_000032789.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar	1 clinvar	3
missense			147 clinvar	22 clinvar		169
nonsense						0
start loss						0
frameshift		1 clinvar				1
splice donor/acceptor (+/-2bp)						0
Total	0	1	147	24	1

Loading clinvar variants...

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