ADPRHL1

protein-coding

ADP-ribosylhydrolase like 1

Gene summary

ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008]

MANE transcript

NM_001394807.1

Inheritance

—

ClinVar variants

U:80B:21

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.92

Max pathogenic AF

—

Genomic locus

chr13:113,399,611-113,453,488

External References & Databases

Ensembl (ENSG00000153531)

Transcript & Mutation Effects

hg38 • Region Span ~53.9 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 ADPRHL1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 79

not providedTotal: 20

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001394807.1. 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			1 clinvar	13 clinvar	2 clinvar	16
missense			78 clinvar	4 clinvar	1 clinvar	83
nonsense				1 clinvar		1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	80	18	3	101

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001394807.1	RefSeq	NP_001381736.1	8	MANE Select
ENST00000612156.3	Ensembl	ENSP00000489048.1	8	MANE Select
NM_001304433.1	RefSeq	NP_001291362.1	1	Standard
NM_001375393.1	RefSeq	NP_001362322.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein de-ADP-ribosylation

Molecular Function

magnesium ion binding
ADP-ribosylarginine hydrolase activity

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000375418
Coding exons: 7
Length: 31580
Individuals with no LoFs: 125423
Homozygous LoFs: 3
Heterozygous LoFs: 322
Defined: 125748
p: 0.00129

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.340	213	227	0.937	0.0000147	2295
Missense (PolyPhen)		104	100.45	1.0353		997
Synonymous	0.562	91	98.1	0.928	0.00000685	682
Loss of Function	0.333	17	18.5	0.916	9.52e-7	204

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00043	0.00043	rare
Latino/Admixed American	0.0014	0.0014	notable
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.0020	0.0020	notable
Finnish	0.000092	0.000092	rare
European (Non-Finnish)	0.00048	0.00047	rare
South Asian	0.0057	0.0056	notable
Other	0.0011	0.0011	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.947
RVIS EVS: 0.27
RVIS percentile EVS: 70.58

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.544

Gene Damage Prediction

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