IRGQ

immunity related GTPase Q

Basic information

Region (hg38): 19:43584367-43596134

Previous symbols: [ "IRGQ1" ]

Links

ENSG00000167378 ∙ NCBI:126298 ∙ ∙ HGNC:24868 ∙ Uniprot:Q8WZA9 ∙ 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 IRGQ gene.

• not_specified (64 variants)
• Prostate_cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IRGQ gene is commonly pathogenic or not. These statistics are base on transcript: NM_001007561.3. 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						0
missense			64	1		65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	64	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IRGQ	protein_coding	protein_coding	ENST00000422989	2	11767

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00379	0.988	125692	0	56	125748	0.000223

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.64	317	410	0.772	0.0000266	3797
Missense in Polyphen		119	197.6	0.60224		1897
Synonymous	1.81	172	205	0.839	0.0000151	1526
Loss of Function	2.33	7	17.5	0.399	0.00000107	161

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000741	0.000720
Ashkenazi Jewish	0.00	0.00
East Asian	0.000389	0.000272
Finnish	0.000436	0.000370
European (Non-Finnish)	0.000216	0.000193
Middle Eastern	0.000389	0.000272
South Asian	0.00	0.00
Other	0.000348	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.100

Intolerance Scores

• loftool: 0.448
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.96

Haploinsufficiency Scores

• pHI: 0.111
• hipred: N
• hipred_score: 0.312
• ghis: 0.550

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• gene_indispensability_pred: E
• gene_indispensability_score: 0.704

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Irgq

Gene ontology

• Molecular function: GTP binding