DNAJB1
DnaJ heat shock protein family (Hsp40) member B1, the group of DNAJ (HSP40) heat shock proteins
Basic information
Region (hg38): 19:14513789-14560391
Previous symbols: [ "HSPF1" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
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 | 4 | |||||
| missense | 24 | 24 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 24 | 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) | |||
| 19-14516477-T-C | not specified | Uncertain significance (Mar 15, 2024) | ||
| 19-14516572-T-C | not specified | Uncertain significance (Jul 20, 2021) | ||
| 19-14516581-T-C | not specified | Uncertain significance (May 15, 2023) | ||
| 19-14516685-G-T | not specified | Uncertain significance (Mar 25, 2024) | ||
| 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) | ||
| 19-14516917-G-T | not specified | Uncertain significance (May 14, 2024) | ||
| 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) | ||
| 19-14518207-A-G | not specified | Uncertain significance (May 23, 2024) | ||
| 19-14518215-G-T | not specified | Uncertain significance (Dec 07, 2021) |
GnomAD
Source:
| 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:
- 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