ADPRH

protein-coding

ADP-ribosylarginine hydrolase

Gene summary

The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes that require DTT for maximal activity, the human enzyme is DTT-independent. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, May 2014]

MANE transcript

NM_001125.4

Inheritance

—

ClinVar variants

U:52B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.76

Max pathogenic AF

—

Genomic locus

chr3:119,579,268-119,589,945

External References & Databases

Ensembl (ENSG00000144843)

Transcript & Mutation Effects

hg38 • Region Span ~10.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ADPRH variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 50

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001125.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar			2
missense			49 clinvar	3 clinvar		52
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	52	3	0	55

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 26 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001125.4	RefSeq	NP_001116.1	3	MANE Select
ENST00000357003.8	Ensembl	ENSP00000349496.3	3	MANE Select
NM_001291949.2	RefSeq	NP_001278878.1	3	Standard
NM_001291950.2	RefSeq	NP_001278879.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cellular protein modification process
intracellular protein transport
protein de-ADP-ribosylation
activation of GTPase activity

Molecular Function

magnesium ion binding
ADP-ribosylarginine hydrolase activity
GTPase activator activity
protein binding
Rab GTPase binding

Cellular Component

cell

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000478399
Coding exons: 3
Length: 10678
Individuals with no LoFs: 124907
Homozygous LoFs: 1
Heterozygous LoFs: 840
Defined: 125748
p: 0.00335

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.200	192	200	0.960	0.0000106	2337
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00043	0.00043	rare
Latino/Admixed American	0.00056	0.00055	rare
Ashkenazi Jewish	0.00060	0.00060	rare
East Asian	0	0.0	absent
Finnish	0.0087	0.0088	notable
European (Non-Finnish)	0.0051	0.0051	notable
South Asian	0.00087	0.00078	rare
Other	0.0024	0.0024	notable

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.243

Gene Damage Prediction

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