ART4

ADP-ribosyltransferase 4 (inactive) (Dombrock blood group), the group of ADP-ribosyltransferase family|CD molecules|Blood group antigens

Basic information

Region (hg38): 12:14825568-14843526

Previous symbols: [ "DO" ]

Links

ENSG00000111339 ∙ NCBI:420 ∙ OMIM:110600 ∙ HGNC:726 ∙ Uniprot:Q93070 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Blood group, Dombrock	BG	Hematologic	Variants associated with a blood group may be important in specific situations (eg, related to transfusion)	Hematologic	8036791; 9838931; 11001920; 11724986; 12130524; 12028057

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ART4 gene.

• Inborn genetic diseases (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ART4 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						0
missense			4	1		5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	1	0

Variants in ART4

This is a list of pathogenic ClinVar variants found in the ART4 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-14829418-G-C		ART4-related disorder	Benign (Oct 21, 2019)
12-14829445-T-G		not specified	Uncertain significance (Aug 14, 2023)
12-14840484-T-C		not specified	Likely benign (May 03, 2023)
12-14840505-C-T		Blood group, Dombrock system • ART4-related disorder	Benign (Oct 17, 2019)
12-14840592-C-T		not specified	Uncertain significance (Jan 26, 2022)
12-14840674-G-A		ART4-related disorder	Benign (Oct 17, 2019)
12-14840786-C-G		not specified	Uncertain significance (Jun 30, 2023)
12-14840819-T-C		not specified	Uncertain significance (Nov 03, 2023)
12-14840856-G-A		Blood group, Dombrock system	Affects (Jun 01, 2002)
12-14840920-A-G		ART4-related disorder	Benign (Oct 17, 2019)
12-14840947-GGTAGTCAT-G		Blood group, Dombrock system	Affects (Aug 01, 2002)
12-14841047-G-A		not specified	Uncertain significance (Jan 24, 2023)
12-14841132-C-T		not specified	Uncertain significance (Nov 17, 2023)
12-14841134-A-G		not specified	Uncertain significance (May 10, 2022)
12-14841155-T-C		Blood group, Dombrock system	Affects (Nov 01, 2001)
12-14842968-A-G		Blood group, Dombrock system	Affects (Jun 01, 2002)
12-14843041-A-G		not specified	Uncertain significance (Oct 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ART4	protein_coding	protein_coding	ENST00000228936	3	17927

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00157	0.893	125706	0	30	125736	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.144	168	163	1.03	0.00000755	2058
Missense in Polyphen		49	46.167	1.0614		618
Synonymous	-0.677	72	65.1	1.11	0.00000324	614
Loss of Function	1.41	6	11.0	0.543	5.32e-7	131

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000210	0.000210
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.00	0.00
European (Non-Finnish)	0.000106	0.000106
Middle Eastern	0.000381	0.000381
South Asian	0.000196	0.000196
Other	0.00	0.00

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: 0.204

Intolerance Scores

• loftool: 0.679
• rvis_EVS: 0.93
• rvis_percentile_EVS: 89.79

Haploinsufficiency Scores

• pHI: 0.0674
• hipred: N
• hipred_score: 0.123
• ghis: 0.397

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0275

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Art4

Gene ontology

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