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.

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.

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			38			38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	38	0	0

Variants in IRGQ

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

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

Position	Type	Phenotype	Significance	ClinVar
19-43592048-G-A		not specified	Uncertain significance (Sep 10, 2024)
19-43592100-C-T		not specified	Uncertain significance (Aug 17, 2022)
19-43592103-C-T		Malignant tumor of prostate	Uncertain significance (-)
19-43592256-G-A		not specified	Uncertain significance (Sep 10, 2024)
19-43592261-T-C		not specified	Uncertain significance (May 14, 2024)
19-43592264-G-C		not specified	Uncertain significance (Dec 22, 2023)
19-43592343-C-T		not specified	Uncertain significance (Jul 27, 2024)
19-43592478-C-T		not specified	Uncertain significance (Oct 20, 2024)
19-43592495-C-T		not specified	Uncertain significance (Aug 05, 2024)
19-43592552-G-A		not specified	Uncertain significance (Sep 27, 2024)
19-43592576-C-T		not specified	Uncertain significance (Jun 02, 2023)
19-43592595-G-A		not specified	Uncertain significance (May 31, 2023)
19-43592615-G-A		not specified	Uncertain significance (May 01, 2024)
19-43592619-C-A		not specified	Uncertain significance (Sep 12, 2024)
19-43592703-C-A		not specified	Uncertain significance (Feb 23, 2023)
19-43592722-C-G		not specified	Uncertain significance (Aug 02, 2021)
19-43592844-C-T		not specified	Uncertain significance (Dec 05, 2022)
19-43592885-G-T		not specified	Uncertain significance (Jun 16, 2024)
19-43593092-C-G		not specified	Uncertain significance (Apr 19, 2024)
19-43593105-G-C		not specified	Uncertain significance (Jan 10, 2023)
19-43593176-A-G		not specified	Uncertain significance (Nov 08, 2024)
19-43593188-A-C		not specified	Uncertain significance (Jan 09, 2024)
19-43593189-G-A		not specified	Uncertain significance (Feb 23, 2023)
19-43593206-C-T		not specified	Uncertain significance (Jan 26, 2022)
19-43593242-C-T		not specified	Uncertain significance (May 05, 2023)

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