IQCA1

IQ motif containing with AAA domain 1, the group of AAA ATPases|Dynein regulatory complex

Basic information

Region (hg38): 2:236324147-236507535

Previous symbols: [ "IQCA" ]

Links

ENSG00000132321 ∙ NCBI:79781 ∙ ∙ HGNC:26195 ∙ Uniprot:Q86XH1 ∙ 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 IQCA1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IQCA1 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			65	3		68
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	65	3	0

Variants in IQCA1

This is a list of pathogenic ClinVar variants found in the IQCA1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-236324702-C-T		not specified	Uncertain significance (Jun 21, 2021)
2-236324740-G-A		not specified	Uncertain significance (Feb 16, 2023)
2-236324746-G-C		not specified	Uncertain significance (Aug 04, 2021)
2-236331373-C-T		not specified	Uncertain significance (Dec 01, 2022)
2-236331377-C-G		not specified	Uncertain significance (Dec 05, 2022)
2-236331451-G-A		not specified	Uncertain significance (Dec 21, 2022)
2-236331453-C-T		not specified	Uncertain significance (Jan 18, 2023)
2-236331463-G-C		not specified	Uncertain significance (Nov 11, 2024)
2-236331528-G-A		not specified	Uncertain significance (Jul 05, 2023)
2-236331537-C-T		not specified	Uncertain significance (Jan 05, 2022)
2-236331542-A-T		not specified	Uncertain significance (Aug 19, 2024)
2-236331545-C-G		not specified	Uncertain significance (May 30, 2023)
2-236338219-T-C		not specified	Uncertain significance (May 23, 2023)
2-236338263-G-C		not specified	Uncertain significance (Dec 04, 2024)
2-236338291-C-T		not specified	Uncertain significance (Dec 18, 2023)
2-236338358-G-T		not specified	Uncertain significance (May 31, 2023)
2-236338360-T-G		not specified	Uncertain significance (Nov 11, 2024)
2-236338369-C-A		not specified	Uncertain significance (Jul 05, 2024)
2-236344636-C-T		not specified	Uncertain significance (Dec 19, 2022)
2-236363868-G-A		not specified	Uncertain significance (Feb 06, 2024)
2-236363886-A-T		not specified	Uncertain significance (Nov 01, 2022)
2-236363929-C-G		not specified	Uncertain significance (Dec 28, 2023)
2-236363967-A-C		not specified	Uncertain significance (Jun 16, 2023)
2-236368214-A-G		not specified	Uncertain significance (Apr 09, 2024)
2-236368238-A-G		not specified	Uncertain significance (Oct 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IQCA1	protein_coding	protein_coding	ENST00000409907	19	183392

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.69e-9	1.00	124291	0	348	124639	0.00140

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.220	423	436	0.970	0.0000245	5375
Missense in Polyphen		86	91.236	0.94261		1051
Synonymous	0.545	154	163	0.946	0.00000958	1478
Loss of Function	3.26	22	45.8	0.480	0.00000243	564

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00154	0.00150
Ashkenazi Jewish	0.00	0.00
East Asian	0.000890	0.000890
Finnish	0.00140	0.00139
European (Non-Finnish)	0.00232	0.00227
Middle Eastern	0.000890	0.000890
South Asian	0.000322	0.000294
Other	0.000675	0.000661

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the nexin-dynein regulatory complex (N- DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. {ECO:0000250|UniProtKB:A8IHT2}.

Recessive Scores

• pRec: 0.0982

Intolerance Scores

• rvis_EVS: 0.96
• rvis_percentile_EVS: 90.17

Haploinsufficiency Scores

• pHI: 0.0929
• hipred: N
• hipred_score: 0.466
• ghis: 0.441

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0937

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Iqca

Gene ontology

• Cellular component: cytoplasm;cytoskeleton;motile cilium
• Molecular function: ATP binding