NUDT18

nudix hydrolase 18, the group of Nudix hydrolase family

Basic information

Region (hg38): 8:22105748-22109419

Links

ENSG00000275074 ∙ NCBI:79873 ∙ OMIM:615791 ∙ HGNC:26194 ∙ Uniprot:Q6ZVK8 ∙ 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 NUDT18 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NUDT18 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			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	0

Variants in NUDT18

This is a list of pathogenic ClinVar variants found in the NUDT18 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-22107392-T-C		not specified	Uncertain significance (Oct 02, 2023)
8-22107398-C-T		not specified	Uncertain significance (Feb 28, 2023)
8-22107457-A-C		not specified	Uncertain significance (Nov 17, 2022)
8-22107476-C-T		not specified	Uncertain significance (Dec 25, 2024)
8-22107587-C-A		not specified	Uncertain significance (Jan 15, 2025)
8-22107772-G-A		not specified	Uncertain significance (Dec 21, 2024)
8-22107858-C-A		not specified	Uncertain significance (Jun 03, 2022)
8-22108279-C-G		not specified	Uncertain significance (Jul 11, 2022)
8-22108311-C-G		not specified	Uncertain significance (Oct 06, 2022)
8-22109207-G-A		not specified	Uncertain significance (Aug 17, 2022)
8-22109224-G-A		not specified	Uncertain significance (Aug 16, 2022)
8-22109243-T-G		not specified	Likely benign (May 13, 2022)
8-22109248-C-G		not specified	Uncertain significance (Jul 08, 2021)
8-22109276-C-T		not specified	Uncertain significance (Dec 03, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Mediates the hydrolyzis of oxidized nucleoside diphosphate derivatives. Hydrolyzes 8-oxo-7,8-dihydroguanine (8- oxo-Gua)-containing deoxyribo- and ribonucleoside diphosphates to the monophosphates. Hydrolyzes 8-oxo-dGDP and 8-oxo-GDP with the same efficiencies. Hydrolyzes also 8-OH-dADP and 2-OH-dADP. Exhibited no or minimal hydrolyzis activity against 8-oxo-dGTP, 8- oxo-GTP, dGTP, GTP, dGDP and GDP. Probably removes oxidized guanine nucleotides from both the DNA and RNA precursor pools. {ECO:0000269|PubMed:22556419}.
• Pathway: Nucleobase catabolism;Metabolism of nucleotides;Metabolism;Phosphate bond hydrolysis by NUDT proteins;Purine catabolism (Consensus)

Recessive Scores

• pRec: 0.111

Haploinsufficiency Scores

• pHI: 0.107
• hipred: N
• hipred_score: 0.197

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.956

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nudt18

Gene ontology

• Biological process: nucleobase-containing small molecule catabolic process;dADP catabolic process;dGDP catabolic process;GDP catabolic process
• Cellular component: cytosol
• Molecular function: magnesium ion binding;protein binding;8-oxo-dGDP phosphatase activity;8-oxo-GDP phosphatase activity;8-hydroxy-dADP phosphatase activity