DNAH9

dynein axonemal heavy chain 9, the group of Dyneins, axonemal outer arm complex subunits

Basic information

Region (hg38): 17:11598470-11969748

Previous symbols: [ "DNAH17L" ]

Links

ENSG00000007174 ∙ NCBI:1770 ∙ OMIM:603330 ∙ HGNC:2953 ∙ Uniprot:Q9NYC9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• ciliary dyskinesia, primary, 40 (Strong), mode of inheritance: AR
• ciliary dyskinesia, primary, 40 (Moderate), mode of inheritance: AR
• primary ciliary dyskinesia (Supportive), mode of inheritance: AD
• situs inversus (Supportive), mode of inheritance: AD
• schizophrenia (Limited), mode of inheritance: AD
• ciliary dyskinesia, primary, 40 (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Ciliary dyskinesia, primary, 40	AR	Allergy/Immunology/Infectious; Audiologic/Otolaryngologic; Cardiovascular; Pulmonary	Individuals have been described with a relatively mild respiratory phenotype, but awareness may allow early diagnosis and prompt management of infections and related respiratory sequelae; Individuals may require surgery or other interventions related to congenital cardiac malformations	Allergy/Immunology/Infectious; Cardiovascular; Gastrointestinal; Pulmonary	30471717; 30471718

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAH9 gene.

• not provided (53 variants)
• Ciliary dyskinesia, primary, 40 (3 variants)
• Congenital heart disease (2 variants)
• Non-immune hydrops fetalis (1 variants)
• DNAH9-related disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAH9 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			3	389	43	435
missense		1	666	34	42	743
nonsense	29	9	2			40
start loss			2			2
frameshift	22	7	1	1		31
inframe indel			8		1	9
splice donor/acceptor (+/-2bp)	4	26				30
splice region		1	22	51	4	78
non coding			7	165	139	311
Total	55	43	689	589	225

Highest pathogenic variant AF is 0.000197

Variants in DNAH9

This is a list of pathogenic ClinVar variants found in the DNAH9 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-11598497-C-T		DNAH9-related disorder	Benign (Jun 18, 2019)
17-11598500-TGCGGCTCGCGGAGGAGCGGGCCGCGCTC-T			Pathogenic (Jun 17, 2023)
17-11598501-G-A			Uncertain significance (Sep 17, 2021)
17-11598503-GGCTCGCGGAGGAGCGGGCCGC-G			Uncertain significance (Aug 23, 2022)
17-11598505-C-G			Uncertain significance (Sep 06, 2023)
17-11598505-C-T			Uncertain significance (Nov 29, 2022)
17-11598513-G-A			Likely benign (Jul 26, 2022)
17-11598517-CGGGCCGCGCTCGCGGCGGAGAA-AACGCGGATGGGGAACCCGGCGCCGAC			Pathogenic (May 19, 2022)
17-11598522-C-G			Likely benign (May 27, 2022)
17-11598522-C-T			Likely benign (May 24, 2022)
17-11598525-G-T		DNAH9-related disorder	Likely benign (Apr 26, 2021)
17-11598528-C-T			Likely benign (Nov 04, 2023)
17-11598537-G-C		Inborn genetic diseases • Ciliary dyskinesia, primary, 40	Uncertain significance (Nov 19, 2022)
17-11598540-C-G		Inborn genetic diseases • DNAH9-related disorder	Conflicting classifications of pathogenicity (Jan 20, 2024)
17-11598539-A-ACGCGGATGGGGAACCCGGCGCCGAC		DNAH9-related disorder	Benign (Jan 31, 2024)
17-11598543-G-A			Likely benign (Nov 10, 2023)
17-11598554-C-G		Inborn genetic diseases	Uncertain significance (May 12, 2024)
17-11598558-C-A			Likely benign (Aug 10, 2023)
17-11598558-C-T			Likely benign (Jun 09, 2023)
17-11598559-G-T		Inborn genetic diseases	Uncertain significance (Jan 08, 2024)
17-11598567-A-C		DNAH9-related disorder	Benign (Dec 17, 2023)
17-11598568-C-G		Inborn genetic diseases	Uncertain significance (Dec 18, 2023)
17-11598568-C-T			Pathogenic (May 27, 2023)
17-11598569-G-A			Uncertain significance (May 18, 2023)
17-11598570-A-C			Likely benign (Jan 02, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAH9	protein_coding	protein_coding	ENST00000262442	69	371318

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.05e-60	1.00	125231	0	517	125748	0.00206

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0429	2436	2.43e+3	1.00	0.000139	29535
Missense in Polyphen		660	714.46	0.92377		8620
Synonymous	0.640	920	945	0.974	0.0000555	8660
Loss of Function	5.03	130	208	0.624	0.0000106	2429

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00421	0.00421
Ashkenazi Jewish	0.000893	0.000893
East Asian	0.00398	0.00398
Finnish	0.00153	0.00153
European (Non-Finnish)	0.00194	0.00192
Middle Eastern	0.00398	0.00398
South Asian	0.00232	0.00232
Other	0.000979	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP.
• Pathway: Huntington,s disease - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.119

Intolerance Scores

• loftool: 0.964
• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.06

Haploinsufficiency Scores

• pHI: 0.210
• hipred: Y
• hipred_score: 0.593
• ghis: 0.413

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.544

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Dnah9

Gene ontology

• Biological process: microtubule-based movement;cell projection organization
• Cellular component: microtubule;axoneme;dynein complex;9+2 motile cilium;distal portion of axoneme
• Molecular function: ATP binding;ATP-dependent microtubule motor activity, minus-end-directed;dynein light chain binding;dynein intermediate chain binding;dynein light intermediate chain binding