ADPRHL1

ADP-ribosylhydrolase like 1

Basic information

Region (hg38): 13:113399611-113453488

Links

ENSG00000153531 ∙ NCBI:113622 ∙ OMIM:610620 ∙ HGNC:21303 ∙ Uniprot:Q8NDY3 ∙ 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 ADPRHL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADPRHL1 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			1	5	2	8
missense			33	2	1	36
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	8	3

Variants in ADPRHL1

This is a list of pathogenic ClinVar variants found in the ADPRHL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-113404236-T-C			Uncertain significance (Sep 01, 2023)
13-113405457-G-A			Likely benign (Aug 01, 2023)
13-113406375-C-T			Likely benign (Aug 01, 2022)
13-113407617-G-T			Likely benign (Feb 01, 2024)
13-113408178-G-A			Likely benign (Oct 01, 2022)
13-113422827-T-C		not specified	Uncertain significance (Nov 22, 2021)
13-113422845-G-A		not specified	Uncertain significance (Apr 29, 2024)
13-113422856-G-A		not specified	Uncertain significance (May 26, 2022)
13-113422857-C-T			Likely benign (Oct 01, 2024)
13-113422866-C-A		not specified	Uncertain significance (Jan 30, 2024)
13-113422877-T-C		not specified	Uncertain significance (Jun 01, 2023)
13-113422895-T-C		not specified	Uncertain significance (Oct 26, 2022)
13-113424234-C-T		not specified	Uncertain significance (Oct 27, 2023)
13-113424235-G-A		not specified	Uncertain significance (May 17, 2023)
13-113424253-A-G		not specified	Uncertain significance (Oct 12, 2021)
13-113424278-G-A			Benign (Jul 06, 2018)
13-113424292-T-C		not specified	Uncertain significance (Feb 28, 2024)
13-113424297-G-T		not specified	Uncertain significance (Nov 21, 2023)
13-113424304-G-T		not specified	Uncertain significance (Aug 17, 2022)
13-113425059-C-T		not specified	Uncertain significance (Feb 16, 2023)
13-113428964-G-C		not specified	Uncertain significance (Jun 10, 2024)
13-113428978-C-G		not specified	Uncertain significance (Mar 29, 2024)
13-113428984-T-A		not specified	Uncertain significance (Nov 09, 2022)
13-113428997-G-T		not specified	Uncertain significance (Jan 10, 2023)
13-113429005-C-T		not specified	Uncertain significance (Dec 18, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADPRHL1	protein_coding	protein_coding	ENST00000375418	7	31580

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.49e-11	0.0906	125423	3	322	125748	0.00129

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.340	213	227	0.937	0.0000147	2295
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00179	0.00179
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.00201	0.00201
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000479	0.000466
Middle Eastern	0.00201	0.00201
South Asian	0.00568	0.00560
Other	0.00114	0.00114

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.947
• rvis_EVS: 0.27
• rvis_percentile_EVS: 70.58

Haploinsufficiency Scores

• pHI: 0.149
• hipred: N
• hipred_score: 0.284
• ghis: 0.491

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.544

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adprhl1

Gene ontology

• Biological process: protein de-ADP-ribosylation
• Molecular function: magnesium ion binding;ADP-ribosylarginine hydrolase activity