NUGGC

nuclear GTPase, germinal center associated

Basic information

Region (hg38): 8:28021964-28083936

Previous symbols: [ "C8orf80" ]

Links

ENSG00000189233 ∙ NCBI:389643 ∙ OMIM:619088 ∙ HGNC:33550 ∙ Uniprot:Q68CJ6 ∙ 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 NUGGC gene.

• not_specified (101 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NUGGC gene is commonly pathogenic or not. These statistics are base on transcript: NM_001010906.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			99	2		101
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	99	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NUGGC	protein_coding	protein_coding	ENST00000413272	18	61908

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.39e-12	0.976	124608	0	44	124652	0.000177

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.826	378	426	0.887	0.0000230	5171
Missense in Polyphen		80	94.741	0.84441		1237
Synonymous	-0.301	171	166	1.03	0.00000946	1455
Loss of Function	2.34	25	41.2	0.606	0.00000205	517

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000340	0.000333
Ashkenazi Jewish	0.00	0.00
East Asian	0.000174	0.000167
Finnish	0.00	0.00
European (Non-Finnish)	0.000205	0.000204
Middle Eastern	0.000174	0.000167
South Asian	0.000265	0.000261
Other	0.000168	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Nuclear GTPase found in germinal center B-cells, where it may inhibit function of the activation-induced cytidine deaminase AICDA (PubMed:19734146). Reduces somatic hypermutation in B-cells which may enhance genome stability (By similarity). {ECO:0000250|UniProtKB:D3YWJ0, ECO:0000269|PubMed:19734146}.

Intolerance Scores

• rvis_EVS: 0.67
• rvis_percentile_EVS: 84.75

Haploinsufficiency Scores

• pHI: 0.162
• hipred: N
• hipred_score: 0.234
• ghis: 0.398

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nuggc
• Phenotype: immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: regulation of nuclear cell cycle DNA replication;negative regulation of apoptotic process;cellular response to lipopolysaccharide
• Cellular component: nuclear speck
• Molecular function: GTPase activity;GTP binding