DNAJB13

DnaJ heat shock protein family (Hsp40) member B13, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 11:73951025-73970366

Links

ENSG00000187726 ∙ NCBI:374407 ∙ OMIM:610263 ∙ HGNC:30718 ∙ Uniprot:P59910 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• 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: CGD

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 ClinVar and linked to the DNAJB13 gene.

• not provided (126 variants)
• Inborn genetic diseases (9 variants)
• Primary ciliary dyskinesia 34 (7 variants)
• Primary ciliary dyskinesia (1 variants)
• Cough (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				15	3	18
missense			31	5	1	37
nonsense			1			1
start loss						0
frameshift	2					2
inframe indel						0
splice donor/acceptor (+/-2bp)		2				2
splice region			2	2		4
non coding			2	16	49	67
Total	2	2	34	36	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)
11-73958335-T-C			Benign (Sep 08, 2023)
11-73958338-G-A			Likely benign (Jun 22, 2022)
11-73958340-ACCA-GAG		Primary ciliary dyskinesia 34	Pathogenic (Feb 02, 2022)
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)
11-73958391-T-C			Uncertain significance (Jul 17, 2023)

GnomAD

Source: gnomAD

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: dbNSFP

• 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

• rvis_EVS: 0.4
• rvis_percentile_EVS: 76.31

Haploinsufficiency Scores

• pHI: 0.138
• hipred: N
• hipred_score: 0.494

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

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