FOXJ1
forkhead box J1, the group of Forkhead boxes
Basic information
Region (hg38): 17:76136333-76141245
Previous symbols: [ "FKHL13" ]
Links
Phenotypes
GenCC
Source:
- ciliary dyskinesia, primary, 43 (Strong), mode of inheritance: AD
- ciliary dyskinesia, primary, 43 (Moderate), mode of inheritance: AD
- primary ciliary dyskinesia (Supportive), mode of inheritance: AD
- ciliary dyskinesia, primary, 43 (Strong), mode of inheritance: AD
- ciliary dyskinesia, primary, 43 (Strong), mode of inheritance: AD
- ciliary dyskinesia, primary, 43 (Strong), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Ciliary dyskinesia, primary, 43 | AD | Allergy/Immunology/Infectious; Cardiovascular; Pulmonary | Pulmonary surveillance may be beneficial to assess respiratory 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; Individuals have been described requiring shunting due to obstructive hydrocephalus, and awareness may allow early interventions; The condition can involve congenital cardiac anomalies, and awareness may allow early management | Allergy/Immunology/Infectious; Cardiovascular; Genitourinary; Neurologic; Pulmonary | 31630787 |
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn_genetic_diseases (62 variants)
- FOXJ1-related_disorder (18 variants)
- Ciliary_dyskinesia,_primary,_43 (15 variants)
- not_provided (11 variants)
- not_specified (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOXJ1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001454.4. 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 | 7 | |||||
| missense | 78 | 86 | ||||
| nonsense | 2 | |||||
| start loss | 0 | |||||
| frameshift | 8 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 4 | 3 | 81 | 15 | 0 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FOXJ1 | protein_coding | protein_coding | ENST00000322957 | 2 | 4967 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.969 | 0.0310 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.699 | 202 | 232 | 0.871 | 0.0000136 | 2645 |
| Missense in Polyphen | 51 | 75.328 | 0.67704 | 893 | ||
| Synonymous | 1.07 | 96 | 110 | 0.870 | 0.00000713 | 897 |
| Loss of Function | 3.04 | 0 | 10.8 | 0.00 | 4.62e-7 | 128 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Transcription factor specifically required for the formation of motile cilia. Acts by activating transcription of genes that mediate assembly of motile cilia, such as CFAP157. Binds the DNA consensus sequences 5'-HWDTGTTTGTTTA-3' or 5'- KTTTGTTGTTKTW-3' (where H is not G, W is A or T, D is not C, and K is G or T). Activates the transcription of a variety of ciliary proteins in the developing brain and lung. {ECO:0000250|UniProtKB:Q61660}.;
- Disease
- DISEASE: Allergic rhinitis (ALRH) [MIM:607154]: A common disease with complex inheritance characterized by mucosal inflammation caused by allergen exposure. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.;
Recessive Scores
- pRec
- 0.257
Haploinsufficiency Scores
- pHI
- 0.186
- hipred
- Y
- hipred_score
- 0.540
- ghis
- 0.421
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.942
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Foxj1
- Phenotype
- growth/size/body region phenotype; cellular 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); reproductive system 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); embryo phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);
Zebrafish Information Network
- Gene name
- foxj1a
- Affected structure
- whole organism
- Phenotype tag
- abnormal
- Phenotype quality
- circling
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;central tolerance induction;negative regulation of germinal center formation;positive regulation of central B cell tolerance induction;negative regulation of humoral immune response mediated by circulating immunoglobulin;humoral immune response;spermatogenesis;determination of left/right symmetry;pattern specification process;brain development;heart development;actin cytoskeleton organization;negative regulation of NF-kappaB transcription factor activity;negative regulation of T cell differentiation in thymus;establishment of apical/basal cell polarity;metanephric part of ureteric bud development;negative regulation of T cell proliferation;motile cilium assembly;negative regulation of interleukin-6 biosynthetic process;positive regulation of transcription by RNA polymerase II;negative regulation of B cell activation;leukocyte migration;cilium assembly;lung epithelium development;epithelium development;left/right pattern formation;glomerular parietal epithelial cell development;activation of GTPase activity;positive regulation of lung ciliated cell differentiation
- Cellular component
- nucleus
- Molecular function
- transcription regulatory region sequence-specific DNA binding;RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;protein binding