DNAJA1
DnaJ heat shock protein family (Hsp40) member A1, the group of DNAJ (HSP40) heat shock proteins
Basic information
Region (hg38): 9:33025273-33039907
Previous symbols: [ "HSJ2" ]
Links
Phenotypes
GenCC
Source:
- complex neurodevelopmental disorder (Limited), mode of inheritance: AR
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 DNAJA1 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 | 0 | |||||
| missense | 8 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 8 | 0 | 0 |
Variants in DNAJA1
This is a list of pathogenic ClinVar variants found in the DNAJA1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 9-33026933-A-G | not specified | Uncertain significance (Mar 28, 2023) | ||
| 9-33030502-A-G | not specified | Uncertain significance (Jun 06, 2023) | ||
| 9-33036576-G-A | not specified | Uncertain significance (Jun 28, 2024) | ||
| 9-33036587-C-A | not specified | Uncertain significance (Jul 12, 2023) | ||
| 9-33036602-G-A | not specified | Uncertain significance (Nov 30, 2022) | ||
| 9-33036641-C-T | not specified | Uncertain significance (Nov 13, 2024) | ||
| 9-33037039-T-C | not specified | Uncertain significance (Oct 09, 2024) | ||
| 9-33037104-A-G | not specified | Uncertain significance (Oct 25, 2023) | ||
| 9-33038740-A-T | not specified | Uncertain significance (Aug 19, 2024) | ||
| 9-33038748-C-A | not specified | Uncertain significance (Aug 08, 2023) | ||
| 9-33038803-A-C | not specified | Uncertain significance (Nov 08, 2021) | ||
| 9-33038830-G-A | not specified | Uncertain significance (Sep 16, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| DNAJA1 | protein_coding | protein_coding | ENST00000330899 | 8 | 14697 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0908 | 0.909 | 125734 | 0 | 13 | 125747 | 0.0000517 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.23 | 127 | 220 | 0.577 | 0.0000112 | 2627 |
| Missense in Polyphen | 6 | 30.802 | 0.19479 | 461 | ||
| Synonymous | 0.0293 | 73 | 73.3 | 0.996 | 0.00000387 | 707 |
| Loss of Function | 3.14 | 6 | 21.8 | 0.275 | 0.00000131 | 250 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000904 | 0.0000904 |
| Ashkenazi Jewish | 0.0000996 | 0.0000992 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.0000803 | 0.0000791 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Co-chaperone for HSPA8/Hsc70 (PubMed:10816573). Stimulates ATP hydrolysis, but not the folding of unfolded proteins mediated by HSPA1A (in vitro) (PubMed:24318877). Plays a role in protein transport into mitochondria via its role as co- chaperone. Functions as co-chaperone for HSPA1B and negatively regulates the translocation of BAX from the cytosol to mitochondria in response to cellular stress, thereby protecting cells against apoptosis (PubMed:14752510). Promotes apoptosis in response to cellular stress mediated by exposure to anisomycin or UV (PubMed:24512202). {ECO:0000269|PubMed:10816573, ECO:0000269|PubMed:14752510, ECO:0000269|PubMed:24318877, ECO:0000269|PubMed:24512202, ECO:0000269|PubMed:9192730}.;
- Pathway
- Protein processing in endoplasmic reticulum - Homo sapiens (human);Exercise-induced Circadian Regulation;HSP90 chaperone cycle for steroid hormone receptors (SHR);Cellular responses to stress;Cellular responses to external stimuli;Regulation of Androgen receptor activity
(Consensus)
Recessive Scores
- pRec
- 0.363
Intolerance Scores
- loftool
- 0.714
- rvis_EVS
- -0.56
- rvis_percentile_EVS
- 19.31
Haploinsufficiency Scores
- pHI
- 0.499
- hipred
- Y
- hipred_score
- 0.749
- ghis
- 0.607
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.807
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dnaja1
- 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); reproductive system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); endocrine/exocrine gland phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- protein folding;response to unfolded protein;spermatogenesis;response to heat;flagellated sperm motility;androgen receptor signaling pathway;negative regulation of protein ubiquitination;positive regulation of ATPase activity;DNA damage response, detection of DNA damage;positive regulation of apoptotic process;negative regulation of apoptotic process;negative regulation of JUN kinase activity;regulation of protein transport;protein localization to mitochondrion;toxin transport;negative regulation of establishment of protein localization to mitochondrion;negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway
- Cellular component
- ubiquitin ligase complex;nucleus;mitochondrion;cytosol;microtubule cytoskeleton;membrane;perinuclear region of cytoplasm;extracellular exosome;cytoplasmic side of endoplasmic reticulum membrane
- Molecular function
- G protein-coupled receptor binding;ATPase activator activity;protein binding;ATP binding;Hsp70 protein binding;Tat protein binding;ubiquitin protein ligase binding;metal ion binding;low-density lipoprotein particle receptor binding;unfolded protein binding;chaperone binding;C3HC4-type RING finger domain binding