DNAH7

dynein axonemal heavy chain 7, the group of Dyneins, axonemal inner arm I1/f complex subunits|EF-hand domain containing

Basic information

Region (hg38): 2:195737703-196068837

Links

ENSG00000118997

∙ NCBI:56171 ∙ OMIM:610061 ∙ HGNC:18661 ∙ Uniprot:Q8WXX0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

male infertility with azoospermia or oligozoospermia due to single gene mutation (Limited), mode of inheritance: AR
ciliary dyskinesia, primary, 50 (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Ciliary dyskinesia, primary, 50	AR	Allergy/Immunology/Infectious; Pulmonary	Pulmonary surveillance may be beneficial to assess respiratory function and institute early management measures; Early and aggressive treatment of sinorespiratory infections may be beneficial	Allergy/Immunology/Infectious; Genitourinary; Pulmonary	34476482; 35543642

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAH7 gene.

not_specified (533 variants)
not_provided (130 variants)
DNAH7-related_disorder (70 variants)
Ciliary_dyskinesia,_primary,_50 (19 variants)
Primary_ciliary_dyskinesia (2 variants)
Abdominal_situs_inversus (2 variants)
Hypoplasia_of_the_corpus_callosum (1 variants)
Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation (1 variants)
Dyspnea (1 variants)
Seizure (1 variants)
Abnormal_muscle_tone (1 variants)
Abnormal_basal_ganglia_morphology (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAH7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018897.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	26 clinvar	8 clinvar	35
missense	6 clinvar	1 clinvar	560 clinvar	40 clinvar	23 clinvar	630
nonsense		1 clinvar	1 clinvar	3 clinvar	1 clinvar	6
start loss						0
frameshift	1 clinvar	3 clinvar	6 clinvar	2 clinvar	1 clinvar	13
splice donor/acceptor (+/-2bp)	1 clinvar	4 clinvar	3 clinvar			8
Total	8	9	571	71	33

Highest pathogenic variant AF is 0.000199507

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAH7	protein_coding	protein_coding	ENST00000312428	65	331110

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.35e-71	0.0250	122061	19	2716	124796	0.0110

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.09	2195	2.06e+3	1.07	0.000106	26585
Missense in Polyphen		824	811.63	1.0152		10527
Synonymous	-0.635	737	715	1.03	0.0000366	7437
Loss of Function	3.50	140	192	0.728	0.0000104	2485

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0222	0.0219
Ashkenazi Jewish	0.0102	0.00998
East Asian	0.0142	0.0140
Finnish	0.0145	0.0143
European (Non-Finnish)	0.0111	0.0109
Middle Eastern	0.0142	0.0140
South Asian	0.00679	0.00643
Other	0.0125	0.0123

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) (Consensus)

Recessive Scores

pRec: 0.104

Intolerance Scores

loftool: 0.996
rvis_EVS: 5.09
rvis_percentile_EVS: 99.82

Haploinsufficiency Scores

pHI: 0.239
hipred: N
hipred_score: 0.350
ghis: 0.445

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.401

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Dnah7c
Phenotype

Zebrafish Information Network

Gene name: dnah7
Affected structure: liver
Phenotype tag: abnormal
Phenotype quality: mislocalised

Gene ontology

Biological process: cilium movement;microtubule-based movement;inner dynein arm assembly;cilium-dependent cell motility
Cellular component: cytosol;axonemal dynein complex;microtubule;cilium;dynein complex;inner dynein arm
Molecular function: microtubule motor activity;calcium ion binding;ATP binding;ATP-dependent microtubule motor activity, minus-end-directed;dynein light chain binding;dynein intermediate chain binding;dynein light intermediate chain binding