DNAJB1

DnaJ heat shock protein family (Hsp40) member B1, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 19:14514768-14560391

Previous symbols: [ "HSPF1" ]

Links

ENSG00000132002 ∙ NCBI:3337 ∙ OMIM:604572 ∙ HGNC:5270 ∙ Uniprot:P25685 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAJB1 gene.

• Inborn genetic diseases (19 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJB1 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				1	3	4
missense			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	1	3

Variants in DNAJB1

This is a list of pathogenic ClinVar variants found in the DNAJB1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-14515954-C-A		not specified	Uncertain significance (Mar 29, 2022)
19-14515965-A-G		not specified	Uncertain significance (Jan 02, 2024)
19-14515975-A-T		not specified	Uncertain significance (Mar 13, 2023)
19-14515992-T-C		not specified	Uncertain significance (Jun 21, 2021)
19-14516032-G-A		not specified	Uncertain significance (May 03, 2023)
19-14516049-G-A		not specified	Uncertain significance (Apr 20, 2023)
19-14516071-G-T		not specified	Uncertain significance (May 04, 2023)
19-14516083-G-A		not specified	Uncertain significance (Jan 04, 2022)
19-14516099-A-G			Benign (Jul 06, 2018)
19-14516113-C-T		not specified	Uncertain significance (Nov 03, 2023)
19-14516147-G-A			Benign (Jul 06, 2018)
19-14516572-T-C		not specified	Uncertain significance (Jul 20, 2021)
19-14516581-T-C		not specified	Uncertain significance (May 15, 2023)
19-14516830-T-C		not specified	Uncertain significance (Jun 09, 2022)
19-14516852-T-C		not specified	Uncertain significance (Oct 26, 2022)
19-14516855-G-A		not specified	Uncertain significance (Dec 22, 2023)
19-14516940-G-A			Likely benign (Jul 11, 2018)
19-14516955-C-T		not specified	Uncertain significance (Mar 01, 2023)
19-14517001-T-C		not specified	Uncertain significance (Dec 13, 2022)
19-14517041-T-G		not specified	Uncertain significance (Oct 22, 2021)
19-14518215-G-T		not specified	Uncertain significance (Dec 07, 2021)
19-14518231-C-G		not specified	Uncertain significance (Sep 29, 2022)
19-14518236-C-A		not specified	Uncertain significance (Sep 16, 2021)
19-14518262-G-A		not specified	Uncertain significance (Dec 28, 2023)
19-14518308-G-C			Benign (Dec 13, 2017)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJB1	protein_coding	protein_coding	ENST00000254322	3	15001

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0394	0.933	125706	0	42	125748	0.000167

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.131	206	211	0.975	0.0000125	2238
Missense in Polyphen		34	58.165	0.58454		755
Synonymous	-5.34	146	83.8	1.74	0.00000532	662
Loss of Function	1.90	4	10.7	0.373	7.71e-7	118

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.00337	0.00278
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000890	0.0000791
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.000203	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Interacts with HSP70 and can stimulate its ATPase activity. Stimulates the association between HSC70 and HIP. Negatively regulates heat shock-induced HSF1 transcriptional activity during the attenuation and recovery phase period of the heat shock response (PubMed:9499401). Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro) (PubMed:24318877). {ECO:0000269|PubMed:24318877, ECO:0000269|PubMed:9499401}.
• Pathway: Influenza A - Homo sapiens (human);Protein processing in endoplasmic reticulum - Homo sapiens (human);miR-targeted genes in epithelium - TarBase;miR-targeted genes in leukocytes - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;miR-targeted genes in squamous cell - TarBase;Nuclear Receptors Meta-Pathway;NRF2 pathway;Cellular response to heat stress;Signal Transduction;HSF1 activation;Attenuation phase;HSF1-dependent transactivation;Regulation of HSF1-mediated heat shock response;MAPK6/MAPK4 signaling;HSP90 chaperone cycle for steroid hormone receptors (SHR);Cellular responses to stress;TCR;Cellular responses to external stimuli;MAPK family signaling cascades;Cellular response to heat stress (Consensus)

Recessive Scores

• pRec: 0.570

Intolerance Scores

• loftool: 0.216
• rvis_EVS: -1.07
• rvis_percentile_EVS: 7.37

Haploinsufficiency Scores

• pHI: 0.582
• hipred: Y
• hipred_score: 0.806
• ghis: 0.465

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.899

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Dnajb1
• Phenotype: normal phenotype

Zebrafish Information Network

• Gene name: dnajb1a
• Affected structure: cornea
• Phenotype tag: abnormal
• Phenotype quality: degenerate

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;response to unfolded protein;forebrain development;positive regulation of ATPase activity;chaperone cofactor-dependent protein refolding;negative regulation of inclusion body assembly;negative regulation of transcription from RNA polymerase II promoter in response to stress;regulation of cellular response to heat
• Cellular component: nucleus;nucleoplasm;nucleolus;cytoplasm;cytosol;postsynaptic density;neuronal cell body;dendritic spine;sperm head;extracellular exosome;glutamatergic synapse
• Molecular function: ATPase activator activity;transcription corepressor activity;protein binding;Hsp70 protein binding;cadherin binding;unfolded protein binding;chaperone binding;ATPase binding