GeneBe

DNAH11

dynein axonemal heavy chain 11, the group of Dyneins, axonemal outer arm complex subunits

Basic information

Region (hg38): 7:21543039-21901839

Links

ENSG00000105877 ∙ NCBI:8701 ∙ OMIM:603339 ∙ HGNC:2942 ∙ Uniprot:Q96DT5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • primary ciliary dyskinesia 7 (Strong), mode of inheritance: AR
  • primary ciliary dyskinesia 7 (Strong), mode of inheritance: AR
  • primary ciliary dyskinesia (Supportive), mode of inheritance: AD
  • primary ciliary dyskinesia 7 (Definitive), mode of inheritance: AR
  • primary ciliary dyskinesia 7 (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Ciliary dyskinesia, primary, 7ARAllergy/Immunology/Infectious; Audiologic/Otolaryngologic; Cardiovascular; PulmonaryPulmonary and audiologic surveillance may be beneficial to assess respiratory and hearing function and institute early management measures; In order to facilitate mucus clearance, aggressive interventions (eg, chest percussion and oscillatory vest), as well as vaccinations and early and aggressive treatment of respiratory infections may be beneficial, though measures including lobectomy or lung transplantation may be necessary; Individuals may require surgery or other interventions related to congenital cardiac malformationsAllergy/Immunology/Infectious; Audiologic/Otolaryngologic; Cardiovascular; Gastrointestinal; Pulmonary9585585; 12142464; 18022865; 20301301; 20513915; 22184204; 22499950
The condition can involve multiple anomalies, and individuals may require surgery or other interventions related to findings such as congenital cardiac malformations

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAH11 gene.

  • Primary ciliary dyskinesia (312 variants)
  • Primary ciliary dyskinesia 7 (31 variants)
  • not provided (14 variants)
  • DNAH11-related disorder (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAH11 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
11
clinvar
1117
clinvar
167
clinvar
 1295
missense
9
clinvar
14
clinvar
663
clinvar
603
clinvar
516
clinvar
 1805
nonsense
160
clinvar
16
clinvar
1
clinvar
2
clinvar
 179
start loss
1
clinvar
3
clinvar
 4
frameshift
131
clinvar
15
clinvar
1
clinvar
 147
inframe indel
3
clinvar
18
clinvar
1
clinvar
 22
splice donor/acceptor (+/-2bp)
29
clinvar
75
clinvar
4
clinvar
 108
splice region
1
4
55
214
12
 286
non coding
28
clinvar
822
clinvar
322
clinvar
 1172
Total 330 126 726 2542 1008

Highest pathogenic variant AF is 0.000118

Variants in DNAH11

This is a list of pathogenic ClinVar variants found in the DNAH11 region.

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

Position Type Phenotype Significance ClinVar
7-21543087-CGCGGCTGCTAAGTAGCAGCAGGTGGGAGACTAGGGTCTGCGCTCGCGGCGACCGCGGAGGAGGGTGGGCGCCTGCGGAGGTGTCCTCGCTCACTTCGGGGGGCCCAGAGTCTCGGGTGAGGAGCCAGCCGGCCTCGCGTTCCCTCGGACGGTTGCCCAATGGCAGCCCAGGTGGCAGCCCGGGAGGCGCGAGACTTCAGAGAAGCCCCGACCCTTCGCCTAACCTCGGGGGCCGGCCTGGAGGCAGTGGGCGCTGTGGAGCTCGAGGAGGAGGAGGAGAACGAGGAGGAGGCGGCGGCCAGGAGAGCGCGGAGTTTCGCCCAAGACGCGCGGGTGCGCTTCCTCGGCGGCCGCCTGGCGATGATGCTGGGGTTCACGGAGGAGAAATGGAGCCAGTATTTGGAAAGCGAGGACAACCGGCAGGTTCTTGGGGAGTTTCTGGAAAGCACCAGCCCGGCTTGCCTTGTGTTTAGCTTCGCCGCCTCGGGGCGCCTTGCGGCTTCCC-GGCGCCCCG Primary ciliary dyskinesia Pathogenic (Apr 11, 2023)2855244
7-21543110-T-G Benign (Jan 29, 2021)1264662
7-21543127-C-T Likely benign (Jun 09, 2019)1183790
7-21543219-C-A Primary ciliary dyskinesia Conflicting classifications of pathogenicity (Aug 10, 2019)359593
7-21543232-C-T not specified Likely benign (-)257842
7-21543246-A-C Primary ciliary dyskinesia Likely pathogenic (Dec 31, 2022)2817469
7-21543246-A-G Primary ciliary dyskinesia • Primary ciliary dyskinesia 7 Likely pathogenic (Nov 13, 2023)454666
7-21543247-T-G Primary ciliary dyskinesia Likely pathogenic (Oct 18, 2023)444714
7-21543246-A-ATGGCAGCCCAGG Primary ciliary dyskinesia Uncertain significance (Mar 31, 2016)1792177
7-21543252-GC-G Primary ciliary dyskinesia Pathogenic (Apr 02, 2023)2831053
7-21543253-C-A Primary ciliary dyskinesia Likely benign (Jan 13, 2024)2887564
7-21543253-C-T Primary ciliary dyskinesia Likely benign (Jan 18, 2024)2189667
7-21543254-C-G Primary ciliary dyskinesia Likely benign (Dec 03, 2023)2915576
7-21543264-G-A Primary ciliary dyskinesia Benign (Jan 25, 2024)410836
7-21543266-C-T Primary ciliary dyskinesia Benign (Jan 19, 2024)2114113
7-21543268-G-T Primary ciliary dyskinesia Benign (Dec 21, 2023)2975578
7-21543269-G-C Primary ciliary dyskinesia Likely benign (Sep 06, 2023)2758558
7-21543270-G-T Primary ciliary dyskinesia Pathogenic (Apr 22, 2023)2903087
7-21543276-C-G Primary ciliary dyskinesia Likely benign (Nov 14, 2023)2695904
7-21543276-C-T DNAH11-related disorder Likely pathogenic (Aug 02, 2024)3355200
7-21543277-G-A Primary ciliary dyskinesia Likely benign (Sep 28, 2023)1016210
7-21543277-G-C Primary ciliary dyskinesia Benign (Jan 04, 2024)2729379
7-21543281-C-G Primary ciliary dyskinesia Benign (Oct 04, 2023)2894586
7-21543284-C-T Primary ciliary dyskinesia Likely benign (Feb 11, 2023)2732475
7-21543289-A-T Primary ciliary dyskinesia Likely benign (Feb 06, 2022)2160855

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DNAH11protein_codingprotein_codingENST00000328843 83358625
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
2.54e-581.0012494304581254010.00183
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-5.6130272.27e+31.330.00012129671
Missense in Polyphen964760.181.268110331
Synonymous-6.3410808451.280.00004798350
Loss of Function5.791312250.5830.00001252792

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.002860.00280
Ashkenazi Jewish0.003700.00368
East Asian0.002880.00278
Finnish0.001270.00125
European (Non-Finnish)0.001790.00175
Middle Eastern0.002880.00278
South Asian0.002000.00186
Other0.002520.00246

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.;
Disease
DISEASE: Ciliary dyskinesia, primary, 7 (CILD7) [MIM:611884]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:12142464, ECO:0000269|PubMed:18022865, ECO:0000269|PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway
Huntington,s disease - Homo sapiens (human) (Consensus)

Recessive Scores

pRec
0.122

Haploinsufficiency Scores

pHI
0.125
hipred
hipred_score
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.130

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Dnah11
Phenotype
growth/size/body region phenotype; craniofacial phenotype; muscle phenotype; cellular phenotype; homeostasis/metabolism phenotype; immune system phenotype; liver/biliary system phenotype; respiratory system phenotype; embryo phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; vision/eye phenotype; limbs/digits/tail phenotype; digestive/alimentary phenotype; renal/urinary system phenotype; skeleton phenotype;

Gene ontology

Biological process
regulation of cilium beat frequency;microtubule-based movement;determination of left/right symmetry;learning or memory;flagellated sperm motility;determination of left/right asymmetry in nervous system;epithelial cilium movement involved in determination of left/right asymmetry;cardiac septum morphogenesis;determination of heart left/right asymmetry;sperm flagellum movement involved in flagellated sperm motility
Cellular component
microtubule;dynein complex;9+0 motile cilium;9+2 motile cilium;proximal 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