DNAAF6

dynein axonemal assembly factor 6, the group of Axonemal dynein assembly factors

Basic information

Region (hg38): X:107206611-107244247

Previous symbols: [ "CXorf41", "PIH1D3" ]

Links

ENSG00000080572 ∙ NCBI:139212 ∙ OMIM:300933 ∙ HGNC:28570 ∙ Uniprot:Q9NQM4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• primary ciliary dyskinesia (Supportive), mode of inheritance: AD
• ciliary dyskinesia, primary, 36, X-linked (Strong), mode of inheritance: XL

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Ciliary dyskinesia, primary, 36	XL	Allergy/Immunology/Infectious; Pulmonary	Pulmonary surveillance may be beneficial to assess respiratory 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	Allergy/Immunology/Infectious; Genitourinary; Pulmonary	28041644

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAAF6 gene.

• Ciliary dyskinesia, primary, 36, X-linked (2 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAAF6 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	6	2	9
missense	1		18	2	2	23
nonsense			1			1
start loss						0
frameshift						0
inframe indel			1			1
splice donor/acceptor (+/-2bp)	3	1			1	5
splice region			1	1	3	5
non coding				7	8	15
Total	4	1	21	15	13

Variants in DNAAF6

This is a list of pathogenic ClinVar variants found in the DNAAF6 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-107212690-G-C			Benign (Aug 15, 2019)
X-107212900-G-C			Uncertain significance (Nov 10, 2023)
X-107212906-A-C			Uncertain significance (Jan 28, 2022)
X-107212928-C-T			Uncertain significance (Mar 30, 2023)
X-107212930-C-T		DNAAF6-related disorder	Uncertain significance (Aug 25, 2023)
X-107212951-G-A		Inborn genetic diseases	Likely benign (May 30, 2023)
X-107212977-C-G			Benign (Oct 24, 2023)
X-107213000-A-G		Ciliary dyskinesia, primary, 36, X-linked	Uncertain significance (Nov 29, 2021)
X-107213005-G-C			Uncertain significance (Jan 07, 2024)
X-107213015-C-A			Uncertain significance (Apr 01, 2022)
X-107213021-A-G			Uncertain significance (Dec 02, 2022)
X-107213038-T-C		DNAAF6-related disorder	Likely benign (Nov 16, 2022)
X-107213040-C-A			Likely benign (Apr 26, 2023)
X-107216580-T-G			Benign (Nov 12, 2018)
X-107216661-C-T			Likely benign (Jun 03, 2023)
X-107216663-T-G			Likely benign (Feb 25, 2022)
X-107216668-C-G			Uncertain significance (May 04, 2022)
X-107216683-T-C			Uncertain significance (Apr 04, 2021)
X-107216704-C-T			Uncertain significance (Dec 21, 2021)
X-107216706-T-C			Likely benign (Jan 19, 2024)
X-107216715-T-G			Uncertain significance (Oct 23, 2021)
X-107216720-C-A			Uncertain significance (May 31, 2023)
X-107216734-G-A			Uncertain significance (Aug 21, 2022)
X-107216763-A-T			Likely benign (Jan 27, 2022)
X-107218863-G-A			Pathogenic (Jan 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAAF6	protein_coding	protein_coding	ENST00000535523	6	37612

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.855	0.143	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.475	57	68.0	0.838	0.00000443	1427
Missense in Polyphen		19	21.383	0.88856		453
Synonymous	-0.804	27	22.2	1.22	0.00000148	373
Loss of Function	2.33	0	6.34	0.00	3.99e-7	136

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in cytoplasmic pre-assembly of axonemal dynein. {ECO:0000269|PubMed:28041644}.

Intolerance Scores

• rvis_EVS: 0.3
• rvis_percentile_EVS: 71.81

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.200

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Pih1h3b

Zebrafish Information Network

• Gene name: pih1d3
• Affected structure: trunk
• Phenotype tag: abnormal
• Phenotype quality: curved ventral

Gene ontology

• Biological process: cilium movement;flagellated sperm motility;axonemal dynein complex assembly
• Cellular component: cytoplasm
• Molecular function: protein binding;chaperone binding