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

ENSG00000118997NCBI:56171OMIM:610061HGNC:18661Uniprot:Q8WXX0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Ciliary dyskinesia, primary, 50ARAllergy/Immunology/Infectious; PulmonaryPulmonary surveillance may be beneficial to assess respiratory function and institute early management measures; Early and aggressive treatment of sinorespiratory infections may be beneficialAllergy/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.

EffectPLPVUSLBBSum
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

GeneTypeBio TypeTranscript Coding Exons Length
DNAH7protein_codingprotein_codingENST00000312428 65331110
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.35e-710.02501220611927161247960.0110
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.0921952.06e+31.070.00010626585
Missense in Polyphen824811.631.015210527
Synonymous-0.6357377151.030.00003667437
Loss of Function3.501401920.7280.00001042485

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.02220.0219
Ashkenazi Jewish0.01020.00998
East Asian0.01420.0140
Finnish0.01450.0143
European (Non-Finnish)0.01110.0109
Middle Eastern0.01420.0140
South Asian0.006790.00643
Other0.01250.0123

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

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

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