GeneBe

ODAD3

outer dynein arm docking complex subunit 3, the group of Outer dynein arm docking complex subunits

Basic information

Region (hg38): 19:11420604-11435782

Previous symbols: [ "CCDC151" ]

Links

ENSG00000198003 ∙ NCBI:115948 ∙ OMIM:615956 ∙ HGNC:28303 ∙ Uniprot:A5D8V7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • primary ciliary dyskinesia (Supportive), mode of inheritance: AD
  • primary ciliary dyskinesia 30 (Strong), mode of inheritance: AR
  • primary ciliary dyskinesia 30 (Strong), mode of inheritance: AR
  • primary ciliary dyskinesia 30 (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Ciliary dyskinesia, primary, 30ARAllergy/Immunology/Infectious; Audiologic/Otolaryngologic; Cardiovascular; PulmonaryPulmonary 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 malformationsAllergy/Immunology/Infectious; Audiologic/Otolaryngologic; Cardiovascular; Gastrointestinal; Musculoskeletal; Pulmonary25192045; 25224326

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ODAD3 gene.

  • Primary_ciliary_dyskinesia_30 (300 variants)
  • Inborn_genetic_diseases (88 variants)
  • not_provided (40 variants)
  • ODAD3-related_disorder (10 variants)
  • Primary_ciliary_dyskinesia (4 variants)
  • Kartagener_syndrome (3 variants)
  • not_specified (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ODAD3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000145045.5. 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.

EffectPLPVUSLBBSum
synonymous
79
clinvar
1
clinvar
 80
missense
158
clinvar
9
clinvar
4
clinvar
 171
nonsense
7
clinvar
6
clinvar
1
clinvar
 14
start loss
0
frameshift
9
clinvar
4
clinvar
 13
splice donor/acceptor (+/-2bp)
8
clinvar
 8
Total 16 18 159 88 5

Highest pathogenic variant AF is 0.0000763021

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ODAD3protein_codingprotein_codingENST00000356392 1315332
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
3.47e-150.1421247520551248070.000220
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6443283620.9050.00002063863
Missense in Polyphen83101.560.817251126
Synonymous0.7141391500.9260.000008071152
Loss of Function1.042632.40.8030.00000157359

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0004200.000420
Ashkenazi Jewish0.0003010.000298
East Asian0.0002230.000223
Finnish0.00009300.0000928
European (Non-Finnish)0.0002530.000247
Middle Eastern0.0002230.000223
South Asian0.0001640.000163
Other0.0001670.000165

dbNSFP

Source: dbNSFP

Function
FUNCTION: Ciliary protein involved in outer dynein arm assembly and required for motile cilia function. {ECO:0000250|UniProtKB:Q8BSN3}.;
Disease
DISEASE: Ciliary dyskinesia, primary, 30 (CILD30) [MIM:616037]: 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. Patients may 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:25192045, ECO:0000269|PubMed:25224326}. Note=The disease is caused by mutations affecting the gene represented in this entry.;

Intolerance Scores

loftool
0.412
rvis_EVS
0.82
rvis_percentile_EVS
88.02

Haploinsufficiency Scores

pHI
0.0990
hipred
N
hipred_score
0.274
ghis
0.429

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.455

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ccdc151
Phenotype
endocrine/exocrine gland phenotype; growth/size/body region phenotype; cellular 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); hematopoietic system phenotype; respiratory system phenotype; immune system phenotype;

Zebrafish Information Network

Gene name
ccdc151
Affected structure
post-vent region
Phenotype tag
abnormal
Phenotype quality
curved ventral

Gene ontology

Biological process
cilium movement;determination of left/right symmetry;outer dynein arm assembly;regulation of cilium assembly
Cellular component
centriole;cilium;axoneme;ciliary basal body
Molecular function
protein binding