DNAAF11

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

Basic information

Region (hg38): 8:132570416-132675592

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
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 (209 variants)
Primary_ciliary_dyskinesia (106 variants)
not_provided (33 variants)
DNAAF11-related_disorder (13 variants)
not_specified (10 variants)
Kartagener_syndrome (1 variants)
Multiple_sclerosis,_susceptibility_to (1 variants)
Respiratory_ciliopathies_including_non-CF_bronchiectasis (1 variants)
Infertility_disorder (1 variants)
Heterotaxy (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. These statistics are base on transcript: NM_000012472.6. 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				53 clinvar	2 clinvar	55
missense	1 clinvar	4 clinvar	106 clinvar	14 clinvar	2 clinvar	127
nonsense	11 clinvar		1 clinvar			12
start loss	1	1				2
frameshift	14 clinvar	3 clinvar	1 clinvar			18
splice donor/acceptor (+/-2bp)	5 clinvar	6 clinvar				11
Total	32	14	108	67	4

Highest pathogenic variant AF is 0.00014924798

Loading clinvar variants...

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
essential_gene_gene_trap
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
Phenotype

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