ODAD3

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

Basic information

Region (hg38): 19:11420603-11435782

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

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Ciliary dyskinesia, primary, 30	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; Musculoskeletal; Pulmonary	25192045; 25224326

ClinVar

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

• Primary ciliary dyskinesia 30 (221 variants)
• not provided (49 variants)
• Inborn genetic diseases (9 variants)
• Primary ciliary dyskinesia (4 variants)
• not specified (3 variants)
• Kartagener syndrome (2 variants)
• ODAD3-related condition (2 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.

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			1	48	2	51
missense			99	5	4	108
nonsense	6	2				8
start loss						0
frameshift	7	1				8
inframe indel			7			7
splice donor/acceptor (+/-2bp)		6	1			7
splice region			6	8	1	15
non coding				38	20	58
Total	13	9	108	91	26

Highest pathogenic variant AF is 0.0000131

Variants in ODAD3

This is a list of pathogenic ClinVar variants found in the ODAD3 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-11420604-G-G			Benign (Jul 09, 2018)
19-11420734-C-G			Likely benign (Jul 10, 2018)
19-11420854-C-T		Inborn genetic diseases	Uncertain significance (Jan 02, 2024)
19-11420858-GCTT-G		Primary ciliary dyskinesia 30	Uncertain significance (Aug 04, 2023)
19-11420910-G-A		Primary ciliary dyskinesia 30	Likely benign (Oct 03, 2023)
19-11420918-C-A		Primary ciliary dyskinesia 30 • ODAD3-related disorder	Benign/Likely benign (Jun 23, 2023)
19-11420925-GTCC-G		Primary ciliary dyskinesia 30	Uncertain significance (Nov 27, 2021)
19-11420930-C-T		Inborn genetic diseases	Uncertain significance (Dec 15, 2022)
19-11420933-C-T		Inborn genetic diseases	Uncertain significance (Oct 25, 2023)
19-11420951-A-C			Likely benign (Nov 13, 2018)
19-11420957-G-T		Primary ciliary dyskinesia 30	Likely benign (Oct 03, 2023)
19-11420964-G-C		Primary ciliary dyskinesia 30	Likely benign (Nov 15, 2022)
19-11421109-T-TC		Primary ciliary dyskinesia 30	Benign (Jul 13, 2022)
19-11421116-A-T		Primary ciliary dyskinesia 30	Likely benign (Mar 01, 2023)
19-11421117-C-T		Primary ciliary dyskinesia 30	Likely benign (Oct 06, 2023)
19-11421133-A-C		Primary ciliary dyskinesia 30 • Inborn genetic diseases	Uncertain significance (Sep 23, 2022)
19-11421139-T-C		Primary ciliary dyskinesia 30	Uncertain significance (Apr 05, 2023)
19-11421150-G-A		Primary ciliary dyskinesia 30	Likely benign (Dec 04, 2022)
19-11421156-G-A		Primary ciliary dyskinesia 30	Likely benign (Sep 19, 2023)
19-11421158-G-T		Primary ciliary dyskinesia 30	Uncertain significance (Nov 06, 2018)
19-11421197-C-T		Primary ciliary dyskinesia 30 • Inborn genetic diseases	Uncertain significance (Jan 02, 2024)
19-11421198-T-C		Primary ciliary dyskinesia 30	Likely benign (Nov 22, 2023)
19-11421201-G-A		Primary ciliary dyskinesia 30	Likely benign (Jun 20, 2023)
19-11421667-T-C		Primary ciliary dyskinesia 30	Likely benign (Apr 24, 2023)
19-11421668-G-A		Primary ciliary dyskinesia 30 • ODAD3-related disorder	Likely benign (Jan 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ODAD3	protein_coding	protein_coding	ENST00000356392	13	15332

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.47e-15	0.142	124752	0	55	124807	0.000220

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.644	328	362	0.905	0.0000206	3863
Missense in Polyphen		83	101.56	0.81725		1126
Synonymous	0.714	139	150	0.926	0.00000807	1152
Loss of Function	1.04	26	32.4	0.803	0.00000157	359

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000420	0.000420
Ashkenazi Jewish	0.000301	0.000298
East Asian	0.000223	0.000223
Finnish	0.0000930	0.0000928
European (Non-Finnish)	0.000253	0.000247
Middle Eastern	0.000223	0.000223
South Asian	0.000164	0.000163
Other	0.000167	0.000165

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

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

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