DNAJB13
Basic information
Region (hg38): 11:73951026-73970366
Links
Phenotypes
GenCC
Source:
- primary ciliary dyskinesia 34 (Moderate), mode of inheritance: AR
- primary ciliary dyskinesia 34 (Limited), mode of inheritance: AR
- primary ciliary dyskinesia 34 (Limited), mode of inheritance: AR
- primary ciliary dyskinesia (Supportive), mode of inheritance: AD
- primary ciliary dyskinesia 34 (Strong), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Ciliary dyskinesia, primary, 34 | AR | Allergy/Immunology/Infectious; 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 | Allergy/Immunology/Infectious; Genitourinary; Pulmonary | 27486783 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (1 variants)
- Primary ciliary dyskinesia 34 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJB13 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 | 20 | 23 | ||||
missense | 38 | 44 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 2 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 3 | |||||
splice region | 2 | 4 | 6 | |||
non coding | 20 | 49 | 71 | |||
Total | 2 | 4 | 40 | 45 | 53 |
Highest pathogenic variant AF is 0.0000131
Variants in DNAJB13
This is a list of pathogenic ClinVar variants found in the DNAJB13 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-73951054-T-G | Likely benign (Feb 20, 2020) | |||
11-73951061-T-C | DNAJB13-related disorder | Likely benign (Jun 18, 2019) | ||
11-73951088-T-A | DNAJB13-related disorder | Benign/Likely benign (Jan 02, 2024) | ||
11-73951090-T-G | Likely benign (Mar 27, 2022) | |||
11-73951096-C-T | Likely benign (Jul 17, 2023) | |||
11-73951109-A-G | not specified | Uncertain significance (Jan 29, 2024) | ||
11-73951114-A-G | Likely benign (May 19, 2023) | |||
11-73951137-C-T | Uncertain significance (Jan 28, 2022) | |||
11-73951138-G-C | Primary ciliary dyskinesia 34 | Pathogenic (Sep 01, 2016) | ||
11-73951145-G-C | Likely benign (Jun 29, 2023) | |||
11-73951228-C-T | Benign (Dec 31, 2018) | |||
11-73951318-A-G | Benign (Apr 04, 2019) | |||
11-73958000-G-C | Benign (Apr 20, 2019) | |||
11-73958265-C-A | Benign (Nov 27, 2018) | |||
11-73958289-A-C | Benign (Nov 27, 2018) | |||
11-73958321-C-A | Uncertain significance (Aug 31, 2022) | |||
11-73958321-C-G | Uncertain significance (Feb 09, 2022) | |||
11-73958330-G-T | not specified | Uncertain significance (Sep 10, 2024) | ||
11-73958335-T-C | Benign (Sep 08, 2023) | |||
11-73958338-G-A | Likely benign (Jun 22, 2022) | |||
11-73958340-ACCA-GAG | Primary ciliary dyskinesia 34 | Pathogenic (Oct 11, 2024) | ||
11-73958342-C-T | not specified | Uncertain significance (Mar 16, 2022) | ||
11-73958343-AC-A | Pathogenic (May 08, 2023) | |||
11-73958354-T-G | Primary ciliary dyskinesia | Uncertain significance (Dec 02, 2021) | ||
11-73958360-G-A | DNAJB13-related disorder | Likely benign (Jan 29, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DNAJB13 | protein_coding | protein_coding | ENST00000339764 | 8 | 20048 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00285 | 0.986 | 125722 | 0 | 25 | 125747 | 0.0000994 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.678 | 161 | 187 | 0.861 | 0.0000108 | 2085 |
Missense in Polyphen | 37 | 53.952 | 0.68579 | 576 | ||
Synonymous | 0.937 | 64 | 74.3 | 0.862 | 0.00000450 | 592 |
Loss of Function | 2.21 | 7 | 16.8 | 0.417 | 0.00000101 | 184 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000203 | 0.000203 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000109 | 0.000109 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000800 | 0.0000791 |
Middle Eastern | 0.000109 | 0.000109 |
South Asian | 0.000196 | 0.000196 |
Other | 0.000164 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role in the formation of the central complex of ciliary and flagellar axonemes. {ECO:0000250|UniProtKB:Q80Y75, ECO:0000269|PubMed:27486783}.;
Recessive Scores
- pRec
- 0.133
Intolerance Scores
- loftool
- rvis_EVS
- 0.4
- rvis_percentile_EVS
- 76.31
Haploinsufficiency Scores
- pHI
- 0.138
- hipred
- N
- hipred_score
- 0.494
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0678
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dnajb13
- Phenotype
Gene ontology
- Biological process
- chaperone cofactor-dependent protein refolding;axonemal central apparatus assembly
- Cellular component
- cytosol;axoneme;motile cilium;sperm flagellum;sperm connecting piece
- Molecular function
- protein binding;unfolded protein binding;chaperone binding