IQCA1
GeneIQ motif containing with AAA domain 1, the group of AAA ATPases|Dynein regulatory complex
Gene summary
No gene description available in the current model. Review primary literature for detailed gene function and characteristics.
- IQCA
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
GenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to IQCA1 variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 65 | 3 | 68 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 65 | 3 | 0 | 68 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| No transcripts match your selected source or search query. | ||||
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Molecular Function
- ATP binding
Cellular Component
- cytoplasm
- cytoskeleton
- motile cilium
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000409907
- Coding exons
- 19
- Length
- 183392
- Individuals with no LoFs
- 124291
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 348
- Defined
- 124639
- p
- 0.00140
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.220 | 423 | 436 | 0.970 | 0.0000245 | 5375 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0010 | 0.00097 | notable |
| Latino/Admixed American | 0.00053 | 0.00052 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00089 | 0.00089 | rare |
| Finnish | 0.0014 | 0.0014 | notable |
| European (Non-Finnish) | 0.0023 | 0.0023 | notable |
| South Asian | 0.00032 | 0.00029 | rare |
| Other | 0.00068 | 0.00066 | rare |
dbNSFP Gene Annotations
Source:
- 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
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0937
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |