ADPRH

ADP-ribosylarginine hydrolase

Basic information

Region (hg38): 3:119579268-119589945

Links

ENSG00000144843 ∙ NCBI:141 ∙ OMIM:603081 ∙ HGNC:269 ∙ Uniprot:P54922 ∙ 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 ADPRH gene.

• not_specified (42 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADPRH gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001125.4. 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			40	2		42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADPRH	protein_coding	protein_coding	ENST00000478399	3	10678

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000299	0.554	124907	1	840	125748	0.00335

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.200	192	200	0.960	0.0000106	2337
Missense in Polyphen		101	88.843	1.1368		974
Synonymous	-0.129	79	77.6	1.02	0.00000433	705
Loss of Function	0.819	10	13.2	0.757	6.48e-7	148

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000994	0.000994
Ashkenazi Jewish	0.000599	0.000595
East Asian	0.00	0.00
Finnish	0.00873	0.00877
European (Non-Finnish)	0.00512	0.00512
Middle Eastern	0.00	0.00
South Asian	0.000869	0.000784
Other	0.00244	0.00245

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the reverse reaction of mono-ADP-ribosylation.

Recessive Scores

• pRec: 0.103

Intolerance Scores

• loftool: 0.774
• rvis_EVS: -0.45
• rvis_percentile_EVS: 24.19

Haploinsufficiency Scores

• pHI: 0.125
• hipred: N
• hipred_score: 0.350
• ghis: 0.593

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.243

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adprh
• Phenotype: immune system phenotype

Gene ontology

• Biological process: cellular protein modification process;intracellular protein transport;protein de-ADP-ribosylation;activation of GTPase activity
• Cellular component: cell
• Molecular function: magnesium ion binding;ADP-ribosylarginine hydrolase activity;GTPase activator activity;protein binding;Rab GTPase binding;potassium ion binding