ART1

ADP-ribosyltransferase 1, the group of ADP-ribosyltransferase family|CD molecules

Basic information

Region (hg38): 11:3645127-3664416

Links

ENSG00000129744 ∙ NCBI:417 ∙ OMIM:601625 ∙ HGNC:723 ∙ Uniprot:P52961 ∙ 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 ART1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ART1 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					2	2
missense			27	1		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	1	2

Variants in ART1

This is a list of pathogenic ClinVar variants found in the ART1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-3659604-C-G		not specified	Uncertain significance (May 03, 2023)
11-3659648-G-A			Benign (Jul 23, 2018)
11-3659677-G-A		not specified	Uncertain significance (Feb 12, 2024)
11-3659743-A-G		not specified	Uncertain significance (Aug 02, 2022)
11-3659785-G-A		not specified	Uncertain significance (Mar 25, 2024)
11-3659821-C-T		not specified	Uncertain significance (Nov 09, 2022)
11-3659856-G-A		not specified	Uncertain significance (May 14, 2024)
11-3659925-C-T		not specified	Uncertain significance (Dec 28, 2022)
11-3659932-C-T		not specified	Uncertain significance (Jul 14, 2023)
11-3659937-C-T		not specified	Uncertain significance (Jan 10, 2023)
11-3659939-C-T			Benign (Jul 23, 2018)
11-3659943-C-T		not specified	Uncertain significance (May 02, 2024)
11-3659950-A-G		not specified	Uncertain significance (Dec 20, 2022)
11-3659968-C-T		not specified	Uncertain significance (Apr 22, 2022)
11-3660000-G-T		not specified	Uncertain significance (Mar 30, 2024)
11-3660015-G-C		not specified	Uncertain significance (Feb 03, 2022)
11-3660016-G-A		not specified	Uncertain significance (Feb 14, 2023)
11-3660028-G-C		not specified	Uncertain significance (Feb 10, 2022)
11-3660069-C-G		not specified	Uncertain significance (Nov 15, 2023)
11-3660073-G-A		not specified	Likely benign (Aug 12, 2021)
11-3660130-C-T		not specified	Uncertain significance (Aug 17, 2022)
11-3660174-T-G			Uncertain significance (Oct 02, 2023)
11-3660178-G-T		not specified	Uncertain significance (Aug 13, 2021)
11-3660198-G-A		not specified	Uncertain significance (Dec 31, 2023)
11-3660198-G-T		not specified	Uncertain significance (Mar 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ART1	protein_coding	protein_coding	ENST00000250693	4	19289

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.10e-12	0.0156	125358	0	390	125748	0.00155

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.707	227	199	1.14	0.0000116	2105
Missense in Polyphen		72	57.318	1.2562		694
Synonymous	-1.60	100	81.6	1.23	0.00000465	689
Loss of Function	-0.577	16	13.7	1.17	9.70e-7	110

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00160	0.00159
Ashkenazi Jewish	0.00319	0.00318
East Asian	0.000817	0.000816
Finnish	0.000338	0.000323
European (Non-Finnish)	0.00169	0.00167
Middle Eastern	0.000817	0.000816
South Asian	0.00298	0.00294
Other	0.00148	0.00147

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has ADP-ribosyltransferase activity toward GLP1R. {ECO:0000269|PubMed:21901419}.
• Pathway: Vitamin B3 (nicotinate and nicotinamide) metabolism;Antimicrobial peptides;Innate Immune System;Immune System;Alpha-defensins;Defensins (Consensus)

Recessive Scores

• pRec: 0.182

Intolerance Scores

• loftool: 0.921
• rvis_EVS: 1.04
• rvis_percentile_EVS: 91.31

Haploinsufficiency Scores

• pHI: 0.0721
• hipred: N
• hipred_score: 0.199
• ghis: 0.455

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.262

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Art1

Gene ontology

• Biological process: protein ADP-ribosylation;peptidyl-arginine ADP-ribosylation
• Cellular component: plasma membrane;cell surface;anchored component of membrane;sarcoplasmic reticulum membrane
• Molecular function: NAD+ ADP-ribosyltransferase activity;NAD(P)+-protein-arginine ADP-ribosyltransferase activity