DNAAF11

dynein axonemal assembly factor 11, the group of Axonemal dynein assembly factors

Basic information

Region (hg38): 8:132570415-132675592

Previous symbols: [ "LRRC6" ]

Links

ENSG00000129295 ∙ NCBI:23639 ∙ OMIM:614930 ∙ HGNC:16725 ∙ Uniprot:Q86X45 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• primary ciliary dyskinesia 19 (Definitive), mode of inheritance: AR
• primary ciliary dyskinesia 19 (Strong), mode of inheritance: AR
• primary ciliary dyskinesia 19 (Strong), mode of inheritance: AR
• primary ciliary dyskinesia 19 (Strong), mode of inheritance: AR
• primary ciliary dyskinesia 19 (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Ciliary dyskinesia, primary 19	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	23122589

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAAF11 gene.

• Primary ciliary dyskinesia 19 (164 variants)
• Primary ciliary dyskinesia (50 variants)
• not provided (47 variants)
• not specified (12 variants)
• Inborn genetic diseases (7 variants)
• DNAAF11-related condition (4 variants)
• Multiple sclerosis, susceptibility to (1 variants)
• Heterotaxy (1 variants)
• Kartagener syndrome (1 variants)
• Infertility disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAAF11 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				34	3	37
missense	1		71	3	3	78
nonsense	9		1			10
start loss	1					1
frameshift	8	1				9
inframe indel			2			2
splice donor/acceptor (+/-2bp)	3	2				5
splice region			4	3		7
non coding			8	25	17	50
Total	22	3	82	62	23

Highest pathogenic variant AF is 0.0000987

Variants in DNAAF11

This is a list of pathogenic ClinVar variants found in the DNAAF11 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-132572067-A-G		Primary ciliary dyskinesia 19	Conflicting classifications of pathogenicity (Dec 10, 2019)
8-132572109-G-C		Primary ciliary dyskinesia 19	Uncertain significance (Jan 13, 2018)
8-132572113-T-C		Primary ciliary dyskinesia 19	Uncertain significance (Jan 13, 2018)
8-132572127-T-C		Primary ciliary dyskinesia 19	Uncertain significance (Jan 12, 2018)
8-132572233-T-A		Primary ciliary dyskinesia 19	Uncertain significance (Jan 13, 2018)
8-132572238-A-C		Primary ciliary dyskinesia 19	Uncertain significance (Jan 12, 2018)
8-132572243-G-T		Primary ciliary dyskinesia 19	Uncertain significance (Jan 13, 2018)
8-132572274-G-T		Primary ciliary dyskinesia 19	Uncertain significance (Jan 12, 2018)
8-132572301-A-C		Primary ciliary dyskinesia 19 • Primary ciliary dyskinesia	Conflicting classifications of pathogenicity (Jan 15, 2018)
8-132572310-A-G		not specified • Primary ciliary dyskinesia • Primary ciliary dyskinesia 19	Benign/Likely benign (Jan 31, 2024)
8-132572315-C-G		Primary ciliary dyskinesia 19	Benign (Jun 16, 2023)
8-132572315-C-T		Primary ciliary dyskinesia 19	Benign (Mar 19, 2023)
8-132572316-G-A		not specified • Primary ciliary dyskinesia 19 • Multiple sclerosis, susceptibility to • Primary ciliary dyskinesia	Conflicting classifications of pathogenicity (Jan 25, 2024)
8-132572317-G-A		Primary ciliary dyskinesia	Uncertain significance (Apr 12, 2022)
8-132572321-C-T		Primary ciliary dyskinesia 19	Likely benign (Feb 11, 2023)
8-132572364-A-G		not specified • Primary ciliary dyskinesia 19 • Primary ciliary dyskinesia	Benign (Jan 18, 2024)
8-132572372-G-C		Primary ciliary dyskinesia 19	Likely benign (Oct 17, 2022)
8-132572379-G-A		Primary ciliary dyskinesia	Uncertain significance (Jan 30, 2024)
8-132572382-C-T		Primary ciliary dyskinesia 19	Uncertain significance (Aug 13, 2022)
8-132572383-G-A		Primary ciliary dyskinesia 19	Uncertain significance (Dec 22, 2021)
8-132572390-G-C		Primary ciliary dyskinesia 19	Likely benign (May 20, 2022)
8-132572402-T-C			Likely benign (Dec 13, 2017)
8-132572407-C-T		Primary ciliary dyskinesia 19	Uncertain significance (Mar 28, 2022)
8-132572413-C-A		Primary ciliary dyskinesia 19	Uncertain significance (Feb 14, 2018)
8-132572414-T-G		Primary ciliary dyskinesia 19 • Primary ciliary dyskinesia	Benign/Likely benign (Oct 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAAF11	protein_coding	protein_coding	ENST00000250173	12	103519

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.04e-10	0.501	125599	0	148	125747	0.000589

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.128	243	237	1.02	0.0000118	3113
Missense in Polyphen		60	60.444	0.99265		805
Synonymous	-0.137	86	84.4	1.02	0.00000453	798
Loss of Function	1.23	19	25.7	0.739	0.00000135	327

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000802	0.000799
Ashkenazi Jewish	0.00397	0.00398
East Asian	0.000189	0.000163
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000352	0.000352
Middle Eastern	0.000189	0.000163
South Asian	0.00148	0.00147
Other	0.000331	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in dynein arm assembly, hence essential for proper axoneme building for cilia motility. {ECO:0000269|PubMed:23122589}.

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.939
• rvis_EVS: 0.37
• rvis_percentile_EVS: 75.43

Haploinsufficiency Scores

• pHI: 0.0565
• hipred: N
• hipred_score: 0.187
• ghis: 0.421

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• gene_indispensability_pred: N
• gene_indispensability_score: 0.186

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Lrrc6

Zebrafish Information Network

• Gene name: lrrc6
• Affected structure: posterior pronephric duct
• Phenotype tag: abnormal
• Phenotype quality: decreased speed

Gene ontology

• Biological process: cilium movement;epithelial cilium movement;cytoskeleton organization;male gonad development;flagellated sperm motility;outer dynein arm assembly;inner dynein arm assembly;motile cilium assembly;cilium assembly;epithelial cilium movement involved in determination of left/right asymmetry;cilium movement involved in cell motility;reproductive system development
• Cellular component: cytoplasm;cilium;motile cilium
• Molecular function: molecular_function;protein binding