DNAH10

dynein axonemal heavy chain 10, the group of Dyneins, axonemal inner arm I1/f complex subunits

Basic information

Region (hg38): 12:123762188-123935720

Links

ENSG00000197653 ∙ NCBI:196385 ∙ OMIM:605884 ∙ HGNC:2941 ∙ Uniprot:Q8IVF4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 23.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_001372106.1	NP_001359035.1	79	yes	-
ENST00000673944.1	ENSP00000501095.1	79	yes	-
NM_207437.3	NP_997320.2	78	-	-
ENST00000497783.3	ENSP00000444761.2	12	-	-

Phenotypes

GenCC

Source: genCC

• spermatogenic failure 56 (Limited), mode of inheritance: AR
• spermatogenic failure 56 (Moderate), mode of inheritance: AR
• primary ciliary dyskinesia (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Spermatogenic failure 56	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Genitourinary	34237282

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAH10 gene.

• not_specified (689 variants)
• not_provided (161 variants)
• DNAH10-related_disorder (62 variants)
• Spermatogenic_failure_56 (17 variants)
• Male_infertility (4 variants)
• Abnormal_sperm_morphology (1 variants)
• Reduced_sperm_motility (1 variants)
• Oligospermia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAH10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001372106.1. 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			3	68	25	96
missense		2	688	44	31	765
nonsense	1	3	3			7
start loss						0
frameshift	2	2	5			9
splice donor/acceptor (+/-2bp)			7			7
Total	3	7	706	112	56

Highest pathogenic variant AF is 0.000048954844

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAH10	protein_coding	protein_coding	ENST00000409039	78	173712

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125249	2	497	125748	0.00199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.55	2267	2.48e+3	0.913	0.000149	29433
Missense in Polyphen		761	887.18	0.85778		10311
Synonymous	-0.00258	996	996	1.00	0.0000658	8448
Loss of Function	5.54	128	216	0.593	0.0000116	2592

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00519	0.00505
Ashkenazi Jewish	0.00209	0.00209
East Asian	0.00208	0.00196
Finnish	0.000512	0.000508
European (Non-Finnish)	0.00227	0.00224
Middle Eastern	0.00208	0.00196
South Asian	0.00124	0.00118
Other	0.00266	0.00245

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. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity). Probable inner arm dynein heavy chain. {ECO:0000250}.
• Pathway: Huntington,s disease - Homo sapiens (human) (Consensus)

Intolerance Scores

• loftool: 0.919
• rvis_EVS: 1.33
• rvis_percentile_EVS: 94.1

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.188

Gene Damage Prediction

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

Gene ontology

• Biological process: microtubule-based movement
• Cellular component: cytoplasm;microtubule;cilium;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