PARP10

protein-coding

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

Gene summary

Poly(ADP-ribose) polymerases (PARPs), such as PARP10, regulate gene transcription by altering chromatin organization by adding ADP-ribose to histones. PARPs can also function as transcriptional cofactors (Yu et al., 2005 [PubMed 15674325]).[supplied by OMIM, Mar 2008]

MANE transcript

NM_032789.5

Inheritance

—

ClinVar variants

P:1U:176B:27

Top phenotype

Developmental delay

gnomAD constraint

pLI —, LoF o/e 0.5

Max pathogenic AF

—

Genomic locus

chr8:143,977,153-144,012,772

External References & Databases

Ensembl (ENSG00000178685)

Transcript & Mutation Effects

hg38 • Region Span ~35.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PARP10 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 186

not providedTotal: 8

Developmental delayTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032789.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	2 clinvar	1 clinvar	4
missense			169 clinvar	24 clinvar		193
nonsense			1 clinvar			1
start loss						0
frameshift		1 clinvar	1 clinvar			2
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	1	176	26	1	204

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 52 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032789.5	RefSeq	NP_116178.2	11	MANE Select
ENST00000313028.12	Ensembl	ENSP00000325618.7	11	MANE Select
NM_001317895.2	RefSeq	NP_001304824.1	10	Standard
ENST00000313059.9	Ensembl	ENSP00000314320.5	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

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

Molecular Function

NAD+ ADP-ribosyltransferase activity
protein binding
K63-linked polyubiquitin modification-dependent protein binding

Cellular Component

nucleus
nucleolus
cytoplasm
cytosol
intracellular membrane-bounded organelle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000313028
Coding exons: 11
Length: 35620
Individuals with no LoFs: 125683
Homozygous LoFs: 1
Heterozygous LoFs: 63
Defined: 125747
p: 0.000255

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.55	532	643	0.828	0.0000408	6396
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00063	0.00060	rare
Finnish	0.00024	0.00018	rare
European (Non-Finnish)	0.00026	0.00025	rare
South Asian	0.00047	0.00042	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.748

Gene Damage Prediction

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