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
• ciliary dyskinesia, primary, 40 (Definitive), 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 (1659 variants)
• Inborn_genetic_diseases (626 variants)
• DNAH9-related_disorder (185 variants)
• Ciliary_dyskinesia,_primary,_40 (103 variants)
• Primary_ciliary_dyskinesia (10 variants)
• not_specified (4 variants)
• Congenital_heart_disease (2 variants)
• Hydrocephalus (2 variants)
• Abnormal_cardiovascular_system_morphology (2 variants)
• Non-immune_hydrops_fetalis (1 variants)
• Schizophrenia (1 variants)
• Sinoatrial_node_dysfunction_and_deafness (1 variants)
• Prostate_cancer (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. These statistics are base on transcript: NM_000001372.4. 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			8	503	39	550
missense	4	1	999	84	37	1125
nonsense	35	17	2			54
start loss			1			1
frameshift	33	10	2			45
splice donor/acceptor (+/-2bp)	5	34	1			40
Total	77	62	1013	587	76

Highest pathogenic variant AF is 0.00060011

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