QNG1

Q-nucleotide N-glycosylase 1

Basic information

Region (hg38): 9:83938311-83956986

Previous symbols: [ "C9orf64" ]

Links

ENSG00000165118 ∙ NCBI:84267 ∙ OMIM:611342 ∙ HGNC:28144 ∙ Uniprot:Q5T6V5 ∙ 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 QNG1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the QNG1 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	1
missense			1		3	4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	4

Variants in QNG1

This is a list of pathogenic ClinVar variants found in the QNG1 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-83939729-A-G		not specified	Uncertain significance (Aug 16, 2021)
9-83944798-G-A			Benign (Jun 18, 2018)
9-83944985-T-C			Benign (Apr 16, 2018)
9-83955571-G-T			Benign (Dec 31, 2019)
9-83955619-G-C			Benign (Dec 31, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
QNG1	protein_coding	protein_coding	ENST00000376344	4	18676

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000103	0.563	125708	0	40	125748	0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.447	185	203	0.912	0.0000118	2220
Missense in Polyphen		71	78.853	0.90041		903
Synonymous	1.77	64	84.7	0.755	0.00000554	673
Loss of Function	0.897	11	14.7	0.748	8.05e-7	165

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000296	0.000295
Ashkenazi Jewish	0.00	0.00
East Asian	0.000273	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.000134	0.000132
Middle Eastern	0.000273	0.000272
South Asian	0.000330	0.000327
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in salvaging queuosine. {ECO:0000269|PubMed:15164053}.

Recessive Scores

• pRec: 0.0873

Intolerance Scores

• loftool: 0.340
• rvis_EVS: 0.73
• rvis_percentile_EVS: 86.17

Haploinsufficiency Scores

• pHI: 0.126
• hipred: N
• hipred_score: 0.306
• ghis: 0.490

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	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: 2210016F16Rik

Gene ontology

• Biological process: biological_process;tRNA-guanine transglycosylation
• Cellular component: cellular_component
• Molecular function: molecular_function