DNAH7
Basic information
Region (hg38): 2:195737703-196068837
Links
Phenotypes
GenCC
Source:
- 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:
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
- 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 | 26 | 35 | ||||
missense | 560 | 40 | 23 | 630 | ||
nonsense | 6 | |||||
start loss | 0 | |||||
frameshift | 13 | |||||
splice donor/acceptor (+/-2bp) | 8 | |||||
Total | 8 | 9 | 571 | 71 | 33 |
Highest pathogenic variant AF is 0.000199507
GnomAD
Source:
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:
- 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