NUDT8

nudix hydrolase 8, the group of Nudix hydrolase family

Basic information

Region (hg38): 11:67627938-67629937

Links

ENSG00000167799 ∙ NCBI:254552 ∙ ∙ HGNC:8055 ∙ Uniprot:Q8WV74 ∙ 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 NUDT8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NUDT8 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in NUDT8

This is a list of pathogenic ClinVar variants found in the NUDT8 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-67628960-C-T		not specified	Uncertain significance (Aug 20, 2024)
11-67628962-G-A		not specified	Uncertain significance (Apr 25, 2022)
11-67628995-C-T		not specified	Uncertain significance (Oct 06, 2022)
11-67629041-C-T		not specified	Uncertain significance (May 10, 2024)
11-67629766-T-G		not specified	Uncertain significance (Dec 05, 2024)
11-67629778-G-A		not specified	Uncertain significance (Sep 26, 2024)
11-67629787-C-A		not specified	Uncertain significance (May 30, 2022)
11-67629802-G-T		not specified	Uncertain significance (Dec 03, 2024)
11-67629900-G-C		not specified	Uncertain significance (Jun 26, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NUDT8	protein_coding	protein_coding	ENST00000376693	4	1993

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000809	0.332	125628	0	22	125650	0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.126	122	126	0.968	0.00000753	1425
Missense in Polyphen		36	41.766	0.86194		472
Synonymous	1.04	51	61.4	0.831	0.00000371	564
Loss of Function	-0.0907	6	5.76	1.04	2.46e-7	74

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000187	0.000185
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000218
Finnish	0.0000465	0.0000462
European (Non-Finnish)	0.0000804	0.0000792
Middle Eastern	0.000218	0.000218
South Asian	0.000164	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probably mediates the hydrolysis of some nucleoside diphosphate derivatives. {ECO:0000250}.

Recessive Scores

• pRec: 0.108

Haploinsufficiency Scores

• pHI: 0.133
• hipred: N
• hipred_score: 0.201

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.645

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nudt8

Gene ontology

• Molecular function: hydrolase activity;metal ion binding