ART3

protein-coding

ADP-ribosyltransferase 3 (inactive), the group of ADP-ribosyltransferase family

Gene summary

This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

MANE transcript

NM_001130016.3

Inheritance

—

ClinVar variants

U:73B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1

Max pathogenic AF

—

Genomic locus

chr4:76,011,184-76,114,048

External References & Databases

Ensembl (ENSG00000156219)

Transcript & Mutation Effects

hg38 • Region Span ~102.9 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 ART3 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 71

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001130016.3. 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	1 clinvar		2
missense			68 clinvar	2 clinvar		70
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	73	3	0	76

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 137 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001130016.3	RefSeq	NP_001123488.1	11	MANE Select
ENST00000355810.9	Ensembl	ENSP00000348064.4	11	MANE Select
NM_001130017.3	RefSeq	NP_001123489.1	9	Standard
NM_001179.6	RefSeq	NP_001170.2	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Post-translational modification: synthesis of GPI-anchored proteins
Post-translational protein modification
Metabolism of proteins
Vitamin B3 (nicotinate and nicotinamide) metabolism

Biological Process

protein ADP-ribosylation
peptidyl-arginine ADP-ribosylation

Molecular Function

NAD+ ADP-ribosyltransferase activity
NAD(P)+-protein-arginine ADP-ribosyltransferase activity

Cellular Component

extracellular region
plasma membrane
anchored component of membrane
intrinsic component of plasma membrane
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000355810
Coding exons: 11
Length: 101619
Individuals with no LoFs: 125633
Homozygous LoFs: 0
Heterozygous LoFs: 115
Defined: 125748
p: 0.000457

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.145	192	198	0.971	0.00000898	2573
Missense (PolyPhen)		57	60.215	0.94661		829
Synonymous	0.268	70	72.9	0.960	0.00000368	696
Loss of Function	0.00861	22	22.0	0.998	0.00000109	265

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0013	0.0013	notable
Latino/Admixed American	0.00061	0.00058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00060	0.00060	rare
Finnish	0.000092	0.000092	rare
European (Non-Finnish)	0.00016	0.00016	rare
South Asian	0.0017	0.0013	notable
Other	0.00035	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.111

Intolerance Scores

LoFtool: 0.992
RVIS EVS: 0.22
RVIS percentile EVS: 68.27

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.156

Gene Damage Prediction

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