ODAD1

outer dynein arm docking complex subunit 1, the group of Outer dynein arm docking complex subunits

Basic information

Region (hg38): 19:48296457-48321971

Previous symbols: [ "CCDC114" ]

Links

ENSG00000105479 ∙ NCBI:93233 ∙ OMIM:615038 ∙ HGNC:26560 ∙ Uniprot:Q96M63 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• primary ciliary dyskinesia (Supportive), mode of inheritance: AD
• primary ciliary dyskinesia 20 (Strong), mode of inheritance: AR
• primary ciliary dyskinesia 20 (Definitive), mode of inheritance: AR
• primary ciliary dyskinesia 20 (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Ciliary dyskinesia, primary, 20	AR	Allergy/Immunology/Infectious; Audiologic/Otolaryngologic; 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	Allergy/Immunology/Infectious; Audiologic/Otolaryngologic; Gastrointestinal; Pulmonary	23261302; 23261303

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ODAD1 gene.

• Primary_ciliary_dyskinesia (490 variants)
• not_provided (71 variants)
• Primary_ciliary_dyskinesia_20 (38 variants)
• not_specified (26 variants)
• ODAD1-related_disorder (15 variants)
• Adams-Oliver_syndrome_5 (2 variants)
• Kartagener_syndrome (1 variants)
• Fraser_syndrome_3 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ODAD1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001364171.2. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				121	4	125
missense	1	1	233	35	6	276
nonsense	3	3				6
start loss						0
frameshift	7	2	4			13
splice donor/acceptor (+/-2bp)	4	4				8
Total	15	10	237	156	10

Highest pathogenic variant AF is 0.00024793256

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ODAD1	protein_coding	protein_coding	ENST00000315396	13	25438

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.63e-9	0.877	125715	0	27	125742	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.480	406	434	0.935	0.0000288	4381
Missense in Polyphen		119	144.17	0.8254		1559
Synonymous	1.18	169	190	0.891	0.0000131	1317
Loss of Function	1.71	17	26.5	0.641	0.00000122	302

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000148	0.000148
Ashkenazi Jewish	0.000497	0.000496
East Asian	0.000109	0.000109
Finnish	0.000139	0.000139
European (Non-Finnish)	0.0000733	0.0000703
Middle Eastern	0.000109	0.000109
South Asian	0.000163	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable component of the outer dynein arm complex required along the entire axoneme for tethering of outer dynein arms. {ECO:0000305|PubMed:23261302, ECO:0000305|PubMed:23261303}.
• Disease: DISEASE: Ciliary dyskinesia, primary, 20 (CILD20) [MIM:615067]: 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. Unlike other forms of CILD characterized by reduced fertility, patients with CILD20 do not appear to be infertile. {ECO:0000269|PubMed:23261302, ECO:0000269|PubMed:23261303}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Intolerance Scores

• loftool: 0.693
• rvis_EVS: 1.43
• rvis_percentile_EVS: 94.99

Haploinsufficiency Scores

• pHI: 0.0998
• hipred: N
• hipred_score: 0.172

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.205

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccdc114

Gene ontology

• Biological process: cilium movement;outer dynein arm assembly
• Cellular component: cilium;axoneme;outer dynein arm
• Molecular function: protein binding