DNAAF5
Basic information
Region (hg38): 7:726699-786475
Previous symbols: [ "HEATR2" ]
Links
Phenotypes
GenCC
Source:
- primary ciliary dyskinesia 18 (Strong), mode of inheritance: AR
- primary ciliary dyskinesia 18 (Moderate), mode of inheritance: AR
- primary ciliary dyskinesia 18 (Strong), mode of inheritance: AR
- primary ciliary dyskinesia (Supportive), mode of inheritance: AD
- primary ciliary dyskinesia 18 (Strong), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Ciliary dyskinesia, primary, 18 | 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; Pulmonary | 20350728; 23040496 |
ClinVar
This is a list of variants' phenotypes submitted to
- Primary_ciliary_dyskinesia (717 variants)
- not_provided (83 variants)
- Primary_ciliary_dyskinesia_18 (44 variants)
- DNAAF5-related_disorder (29 variants)
- not_specified (27 variants)
- Congenital_heart_disease (1 variants)
- Schizophrenia (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAAF5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017802.4. 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 | 236 | 245 | ||||
missense | 313 | 46 | 366 | |||
nonsense | 10 | |||||
start loss | 0 | |||||
frameshift | 20 | 26 | ||||
splice donor/acceptor (+/-2bp) | 8 | |||||
Total | 31 | 16 | 316 | 282 | 10 |
Highest pathogenic variant AF is 0.0001982864
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DNAAF5 | protein_coding | protein_coding | ENST00000297440 | 13 | 62853 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
8.10e-11 | 0.883 | 125697 | 0 | 51 | 125748 | 0.000203 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.00234 | 440 | 440 | 1.00 | 0.0000297 | 5353 |
Missense in Polyphen | 110 | 118.99 | 0.92448 | 1411 | ||
Synonymous | -1.37 | 239 | 214 | 1.12 | 0.0000164 | 1905 |
Loss of Function | 1.85 | 21 | 32.3 | 0.649 | 0.00000191 | 340 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000749 | 0.000747 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000163 | 0.000163 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.000195 | 0.000167 |
Middle Eastern | 0.000163 | 0.000163 |
South Asian | 0.000263 | 0.000261 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility. {ECO:0000269|PubMed:23040496, ECO:0000269|PubMed:25232951}.;
- Disease
- DISEASE: Ciliary dyskinesia, primary, 18 (CILD18) [MIM:614874]: 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:23040496, ECO:0000269|PubMed:25232951}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Recessive Scores
- pRec
- 0.101
Intolerance Scores
- loftool
- rvis_EVS
- -0.57
- rvis_percentile_EVS
- 19.04
Haploinsufficiency Scores
- pHI
- 0.155
- hipred
- N
- hipred_score
- 0.229
- ghis
- 0.622
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Mouse Genome Informatics
- Gene name
- Dnaaf5
- Phenotype
Gene ontology
- Biological process
- cilium movement;outer dynein arm assembly;inner dynein arm assembly
- Cellular component
- cytoplasm;motile cilium
- Molecular function
- dynein intermediate chain binding