DNAJA3
DnaJ heat shock protein family (Hsp40) member A3, the group of DNAJ (HSP40) heat shock proteins
Basic information
Region (hg38): 16:4425805-4456775
Previous symbols: [ "TID1" ]
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 DNAJA3 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 | 40 | 43 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 40 | 3 | 0 |
Variants in DNAJA3
This is a list of pathogenic ClinVar variants found in the DNAJA3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 16-4425889-C-T | not specified | Uncertain significance (Oct 03, 2022) | ||
| 16-4425892-G-A | not specified | Uncertain significance (Jun 05, 2024) | ||
| 16-4425895-G-T | not specified | Uncertain significance (Oct 04, 2022) | ||
| 16-4425903-C-G | not specified | Uncertain significance (Sep 13, 2023) | ||
| 16-4425910-T-G | not specified | Uncertain significance (Nov 22, 2023) | ||
| 16-4425930-C-A | not specified | Uncertain significance (Nov 27, 2023) | ||
| 16-4425939-C-T | not specified | Uncertain significance (Feb 10, 2023) | ||
| 16-4425942-G-A | not specified | Uncertain significance (Jul 19, 2023) | ||
| 16-4425946-T-C | not specified | Uncertain significance (Jul 19, 2023) | ||
| 16-4425949-C-T | not specified | Likely benign (Dec 03, 2021) | ||
| 16-4425973-G-A | not specified | Uncertain significance (Jun 17, 2024) | ||
| 16-4425979-G-T | not specified | Uncertain significance (May 30, 2023) | ||
| 16-4426018-C-T | not specified | Uncertain significance (May 24, 2023) | ||
| 16-4426026-G-A | not specified | Uncertain significance (Aug 16, 2021) | ||
| 16-4426030-C-T | not specified | Uncertain significance (Dec 28, 2022) | ||
| 16-4426039-C-T | not specified | Uncertain significance (May 23, 2023) | ||
| 16-4426044-T-C | not specified | Likely benign (Jul 19, 2023) | ||
| 16-4426051-C-T | not specified | Uncertain significance (Nov 22, 2022) | ||
| 16-4426062-C-G | not specified | Uncertain significance (Oct 20, 2023) | ||
| 16-4426071-A-G | not specified | Uncertain significance (Oct 26, 2022) | ||
| 16-4426084-G-A | not specified | Uncertain significance (Mar 20, 2024) | ||
| 16-4434417-C-T | not specified | Likely benign (Sep 01, 2021) | ||
| 16-4434425-A-C | not specified | Uncertain significance (Jun 05, 2024) | ||
| 16-4434446-G-A | not specified | Uncertain significance (Aug 10, 2023) | ||
| 16-4441397-G-C | Uncertain significance (Jun 15, 2020) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| DNAJA3 | protein_coding | protein_coding | ENST00000262375 | 11 | 30971 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00980 | 0.990 | 125729 | 0 | 18 | 125747 | 0.0000716 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.386 | 307 | 289 | 1.06 | 0.0000169 | 3112 |
| Missense in Polyphen | 96 | 113.46 | 0.84611 | 1196 | ||
| Synonymous | -0.382 | 124 | 119 | 1.04 | 0.00000811 | 926 |
| Loss of Function | 3.09 | 8 | 24.5 | 0.327 | 0.00000129 | 280 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000308 | 0.0000308 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000532 | 0.0000527 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.000294 | 0.000294 |
| Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Modulates apoptotic signal transduction or effector structures within the mitochondrial matrix. Affect cytochrome C release from the mitochondria and caspase 3 activation, but not caspase 8 activation. Isoform 1 increases apoptosis triggered by both TNF and the DNA-damaging agent mytomycin C; in sharp contrast, isoform 2 suppresses apoptosis. Can modulate IFN-gamma- mediated transcriptional activity. Isoform 2 may play a role in neuromuscular junction development as an effector of the MUSK signaling pathway.;
- Pathway
- Viral carcinogenesis - Homo sapiens (human);chaperones modulate interferon signaling pathway;Neurotrophic factor-mediated Trk receptor signaling
(Consensus)
Intolerance Scores
- loftool
- 0.513
- rvis_EVS
- -0.64
- rvis_percentile_EVS
- 16.53
Haploinsufficiency Scores
- pHI
- 0.555
- hipred
- Y
- hipred_score
- 0.659
- ghis
- 0.576
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.935
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dnaja3
- Phenotype
- muscle phenotype; homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); normal 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);
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;mitochondrial DNA replication;protein folding;activation-induced cell death of T cells;mitochondrion organization;small GTPase mediated signal transduction;cell aging;negative regulation of cell population proliferation;response to heat;T cell differentiation in thymus;positive regulation of T cell proliferation;negative regulation of programmed cell death;regulation of catalytic activity;skeletal muscle acetylcholine-gated channel clustering
- Cellular component
- nucleus;mitochondrion;mitochondrial matrix;cytosol;actin filament;extrinsic component of plasma membrane;cell junction;neuromuscular junction;intracellular membrane-bounded organelle;postsynaptic membrane
- Molecular function
- protein binding;ATP binding;Hsp70 protein binding;GTPase regulator activity;metal ion binding;unfolded protein binding