ART5

ADP-ribosyltransferase 5, the group of ADP-ribosyltransferase family

Basic information

Region (hg38): 11:3638512-3642316

Links

ENSG00000167311 ∙ NCBI:116969 ∙ OMIM:610625 ∙ HGNC:24049 ∙ Uniprot:Q96L15 ∙ 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 ART5 gene.

• not_specified (49 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ART5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000053017.5. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			47	2	2	51
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	47	2	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ART5	protein_coding	protein_coding	ENST00000397068	4	3814

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000458	0.879	125716	0	31	125747	0.000123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.598	197	175	1.13	0.0000101	1857
Missense in Polyphen		55	52.235	1.0529		617
Synonymous	-0.863	84	74.5	1.13	0.00000427	618
Loss of Function	1.38	7	12.2	0.574	7.57e-7	117

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000905	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000202	0.000202
Middle Eastern	0.000218	0.000217
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Vitamin B3 (nicotinate and nicotinamide) metabolism (Consensus)

Recessive Scores

• pRec: 0.137

Intolerance Scores

• loftool: 0.922
• rvis_EVS: 2.17
• rvis_percentile_EVS: 98.05

Haploinsufficiency Scores

• pHI: 0.192
• hipred: N
• hipred_score: 0.144

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.138

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Art5

Gene ontology

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