ART3

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

Basic information

Region (hg38): 4:76011184-76114048

Links

ENSG00000156219 ∙ NCBI:419 ∙ OMIM:603086 ∙ HGNC:725 ∙ Uniprot:Q13508 ∙ 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 ART3 gene.

• not_specified (64 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ART3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001130016.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			61	2		63
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	61	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ART3	protein_coding	protein_coding	ENST00000355810	11	101619

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.10e-15	0.0137	125633	0	115	125748	0.000457

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.145	192	198	0.971	0.00000898	2573
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00190	0.00190
Ashkenazi Jewish	0.00	0.00
East Asian	0.000599	0.000598
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000160	0.000158
Middle Eastern	0.000599	0.000598
South Asian	0.00165	0.00134
Other	0.000352	0.000326

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.992
• rvis_EVS: 0.22
• rvis_percentile_EVS: 68.27

Haploinsufficiency Scores

• pHI: 0.258
• hipred: N
• hipred_score: 0.146
• ghis: 0.464

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.156

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Art3

Gene ontology

• Biological process: protein ADP-ribosylation;peptidyl-arginine ADP-ribosylation
• Cellular component: extracellular region;plasma membrane;anchored component of membrane;intrinsic component of plasma membrane;extracellular exosome
• Molecular function: NAD+ ADP-ribosyltransferase activity;NAD(P)+-protein-arginine ADP-ribosyltransferase activity