DNAI1
Basic information
Region (hg38): 9:34457414-34520988
Links
Phenotypes
GenCC
Source:
- primary ciliary dyskinesia 1 (Strong), mode of inheritance: AR
- primary ciliary dyskinesia (Supportive), mode of inheritance: AD
- primary ciliary dyskinesia 1 (Strong), mode of inheritance: AR
- primary ciliary dyskinesia 1 (Definitive), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Ciliary dyskinesia, primary, 1 | AR | Allergy/Immunology/Infectious; Audiologic/Otolaryngologic; Cardiovascular; Pulmonary | Pulmonary and audiologic surveillance may be beneficial to assess respiratory and hearing function and institute early management measures; In order to facilitate mucus clearance, aggressive interventions (eg, chest percussion and oscillatory vest), as well as vaccinations and early and aggressive treatment of respiratory infections may be beneficial, though measures including lobectomy or lung transplantation may be necessary; Individuals may require surgery or other interventions related to congenital cardiac malformations | Allergy/Immunology/Infectious; Audiologic/Otolaryngologic; Cardiovascular; Gastrointestinal; Genitourinary; Pulmonary | 10577904; 11231901; 11893720; 16858015; 18434704; 19300264; 20301301; 21143860; 22416021; 22499950 |
ClinVar
This is a list of variants' phenotypes submitted to
- Primary_ciliary_dyskinesia (941 variants)
- Kartagener_syndrome (124 variants)
- not_provided (55 variants)
- not_specified (28 variants)
- DNAI1-related_disorder (21 variants)
- See_cases (2 variants)
- Respiratory_ciliopathies_including_non-CF_bronchiectasis (1 variants)
- Infertility_disorder (1 variants)
- Male_infertility (1 variants)
- Inborn_genetic_diseases (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAI1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012144.4. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 14 | 276 | 291 | |||
missense | 15 | 241 | 30 | 289 | ||
nonsense | 21 | 13 | 34 | |||
start loss | 2 | 2 | ||||
frameshift | 44 | 11 | 55 | |||
splice donor/acceptor (+/-2bp) | 33 | 42 | ||||
Total | 78 | 73 | 256 | 306 | 0 |
Highest pathogenic variant AF is 0.000602884
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DNAI1 | protein_coding | protein_coding | ENST00000242317 | 20 | 63571 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
2.42e-8 | 0.999 | 125496 | 2 | 250 | 125748 | 0.00100 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.292 | 382 | 366 | 1.04 | 0.0000205 | 4633 |
Missense in Polyphen | 78 | 84.621 | 0.92176 | 1039 | ||
Synonymous | -1.64 | 170 | 145 | 1.17 | 0.00000901 | 1273 |
Loss of Function | 2.91 | 19 | 38.4 | 0.494 | 0.00000179 | 503 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00147 | 0.00147 |
Ashkenazi Jewish | 0.00248 | 0.00238 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.000416 | 0.000416 |
European (Non-Finnish) | 0.00138 | 0.00137 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.000327 | 0.000327 |
Other | 0.00147 | 0.00147 |
dbNSFP
Source:
- Function
- FUNCTION: Part of the dynein complex of respiratory cilia.;
- Disease
- DISEASE: Ciliary dyskinesia, primary, 1 (CILD1) [MIM:244400]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Kartagener syndrome (KTGS) [MIM:244400]: An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera). {ECO:0000269|PubMed:11231901}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Huntington,s disease - Homo sapiens (human)
(Consensus)
Recessive Scores
- pRec
- 0.152
Intolerance Scores
- loftool
- 0.603
- rvis_EVS
- -0.31
- rvis_percentile_EVS
- 32.23
Haploinsufficiency Scores
- pHI
- 0.314
- hipred
- N
- hipred_score
- 0.443
- ghis
- 0.513
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.106
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dnaic1
- Phenotype
- cellular phenotype; craniofacial phenotype; growth/size/body region phenotype; respiratory system phenotype; immune system phenotype; skeleton phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);
Gene ontology
- Biological process
- cilium movement;microtubule-based movement;determination of left/right symmetry;flagellated sperm motility;outer dynein arm assembly
- Cellular component
- cytoskeleton;microtubule;cilium;dynein complex;outer dynein arm
- Molecular function
- motor activity;protein binding;ATP-dependent microtubule motor activity, plus-end-directed;dynein light chain binding;dynein heavy chain binding