IQUB

IQ motif and ubiquitin domain containing

Basic information

Region (hg38): 7:123452193-123535077

Links

ENSG00000164675 ∙ NCBI:154865 ∙ ∙ HGNC:21995 ∙ Uniprot:Q8NA54 ∙ 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 IQUB gene.

• not_specified (97 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IQUB gene is commonly pathogenic or not. These statistics are base on transcript: NM_000178827.5. 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					1	1
missense			93	5		98
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	93	5	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IQUB	protein_coding	protein_coding	ENST00000466202	12	82678

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.73e-14	0.543	125640	0	103	125743	0.000410

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.102	403	397	1.01	0.0000190	5219
Missense in Polyphen		105	101.6	1.0334		1381
Synonymous	0.0802	135	136	0.991	0.00000647	1424
Loss of Function	1.59	27	37.5	0.720	0.00000169	486

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00293	0.00292
Ashkenazi Jewish	0.00	0.00
East Asian	0.000223	0.000217
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000151	0.000149
Middle Eastern	0.000223	0.000217
South Asian	0.000735	0.000719
Other	0.000498	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play roles in cilia formation and/or maintenance. {ECO:0000250}.

Recessive Scores

• pRec: 0.0844

Intolerance Scores

• loftool: 0.979
• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.1

Haploinsufficiency Scores

• pHI: 0.0690
• hipred: N
• hipred_score: 0.170
• ghis: 0.450

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.481

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Iqub
• Phenotype: reproductive system phenotype

Gene ontology

• Biological process: smoothened signaling pathway;cilium assembly
• Cellular component: acrosomal vesicle;motile cilium
• Molecular function: protein binding