DNAH6

dynein axonemal heavy chain 6, the group of Dyneins, axonemal inner arm I1/f complex subunits

Basic information

Region (hg38): 2:84516454-84819589

Previous symbols: [ "DNHL1" ]

Links

ENSG00000115423 ∙ NCBI:1768 ∙ OMIM:603336 ∙ HGNC:2951 ∙ Uniprot:Q9C0G6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• male infertility with azoospermia or oligozoospermia due to single gene mutation (Moderate), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAH6 gene.

• not provided (164 variants)
• Inborn genetic diseases (153 variants)
• not specified (17 variants)
• DNAH6-related condition (2 variants)
• Abnormal spermatogenesis (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAH6 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				4	22	26
missense			156	7	15	178
nonsense						0
start loss						0
frameshift						0
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region				3	4	7
non coding					107	107
Total	0	0	156	12	144

Variants in DNAH6

This is a list of pathogenic ClinVar variants found in the DNAH6 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-84517851-G-A		not specified	Uncertain significance (Mar 01, 2023)
2-84517908-A-C		not specified	Uncertain significance (Feb 14, 2023)
2-84517931-A-T		not specified	Uncertain significance (Jul 26, 2022)
2-84517945-C-T		not specified	Uncertain significance (Feb 14, 2023)
2-84517987-G-C		not specified	Uncertain significance (Jan 23, 2024)
2-84517989-C-A		not specified	Uncertain significance (May 27, 2022)
2-84517989-C-T		DNAH6-related disorder	Benign/Likely benign (Apr 01, 2024)
2-84518017-G-C		not specified	Uncertain significance (Sep 14, 2021)
2-84525506-A-C			Benign (May 11, 2021)
2-84525578-T-C		not specified	Uncertain significance (Jul 26, 2022)
2-84525590-A-T		not specified	Uncertain significance (Jul 26, 2022)
2-84525623-G-A		not specified	Uncertain significance (Jan 17, 2024)
2-84525660-A-C			Benign (Feb 25, 2018)
2-84525697-A-C		not specified	Uncertain significance (Jul 19, 2023)
2-84528872-A-AT			Benign (May 12, 2021)
2-84528872-A-ATT			Benign (May 12, 2021)
2-84528925-G-A		not specified	Benign (Apr 17, 2019)
2-84528965-T-C		not specified	Likely benign (Mar 06, 2023)
2-84529022-A-G		not specified	Uncertain significance (Oct 02, 2023)
2-84529023-C-T		DNAH6-related disorder	Likely benign (Jul 23, 2019)
2-84529055-G-C		not specified	Uncertain significance (Nov 15, 2021)
2-84529075-A-G		not specified	Uncertain significance (Jul 12, 2022)
2-84529084-C-T		not specified	Uncertain significance (Aug 04, 2023)
2-84529085-G-T		not specified	Uncertain significance (Jan 02, 2024)
2-84529129-C-T		not specified	Uncertain significance (Oct 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAH6	protein_coding	protein_coding	ENST00000389394	76	303135

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.12e-36	1.00	125707	0	41	125748	0.000163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.55	1529	1.97e+3	0.775	0.000104	27354
Missense in Polyphen		422	619.18	0.68155		8639
Synonymous	3.89	559	689	0.811	0.0000356	7759
Loss of Function	6.69	94	195	0.483	0.0000108	2630

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000434	0.000432
Ashkenazi Jewish	0.00	0.00
East Asian	0.000114	0.000109
Finnish	0.0000466	0.0000462
European (Non-Finnish)	0.000161	0.000158
Middle Eastern	0.000114	0.000109
South Asian	0.000311	0.000294
Other	0.000168	0.000163

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 (By similarity). {ECO:0000250}.
• Pathway: Huntington,s disease - Homo sapiens (human);lissencephaly gene (lis1) in neuronal migration and development (Consensus)

Recessive Scores

• pRec: 0.102

Intolerance Scores

• loftool: 0.880
• rvis_EVS: 2.02
• rvis_percentile_EVS: 97.72

Haploinsufficiency Scores

• pHI: 0.383
• hipred: N
• hipred_score: 0.264
• ghis: 0.426

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.168

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnah6

Gene ontology

• Biological process: microtubule-based movement;cilium-dependent cell motility
• Cellular component: axonemal dynein complex;microtubule;dynein complex
• 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