PRKD3
Basic information
Region (hg38): 2:37250501-37324833
Previous symbols: [ "PRKCN" ]
Links
Phenotypes
GenCC
Source:
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 PRKD3 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 | 29 | 31 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 29 | 2 | 0 |
Variants in PRKD3
This is a list of pathogenic ClinVar variants found in the PRKD3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
2-37253204-A-T | not specified | Uncertain significance (Mar 24, 2023) | ||
2-37253206-T-G | not specified | Uncertain significance (Jan 23, 2024) | ||
2-37253233-A-G | not specified | Uncertain significance (Apr 08, 2024) | ||
2-37253308-T-C | not specified | Uncertain significance (May 11, 2022) | ||
2-37253310-C-T | not specified | Uncertain significance (Jun 21, 2022) | ||
2-37253350-C-G | not specified | Uncertain significance (Oct 25, 2022) | ||
2-37256830-G-A | not specified | Uncertain significance (Apr 01, 2022) | ||
2-37256902-G-A | not specified | Uncertain significance (Oct 14, 2023) | ||
2-37260248-C-T | not specified | Uncertain significance (May 04, 2023) | ||
2-37260374-T-A | not specified | Uncertain significance (Nov 13, 2023) | ||
2-37274422-G-C | not specified | Uncertain significance (Mar 18, 2024) | ||
2-37274490-G-A | not specified | Uncertain significance (May 27, 2022) | ||
2-37274540-G-C | not specified | Uncertain significance (Aug 16, 2022) | ||
2-37274583-C-A | not specified | Uncertain significance (May 03, 2023) | ||
2-37274619-A-T | not specified | Uncertain significance (Mar 18, 2024) | ||
2-37274627-T-C | not specified | Uncertain significance (Dec 20, 2021) | ||
2-37274670-T-C | not specified | Likely benign (Oct 20, 2021) | ||
2-37277883-T-C | not specified | Uncertain significance (Aug 30, 2022) | ||
2-37277929-C-G | not specified | Uncertain significance (Jan 06, 2023) | ||
2-37279783-C-T | not specified | Uncertain significance (Dec 08, 2023) | ||
2-37279881-T-C | not specified | Likely benign (Oct 26, 2021) | ||
2-37279899-A-G | not specified | Uncertain significance (Feb 13, 2024) | ||
2-37282547-T-C | not specified | Uncertain significance (Feb 06, 2023) | ||
2-37282549-G-C | not specified | Uncertain significance (Nov 01, 2022) | ||
2-37286198-G-A | not specified | Uncertain significance (Oct 20, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
PRKD3 | protein_coding | protein_coding | ENST00000379066 | 18 | 74307 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00529 | 0.995 | 125723 | 0 | 25 | 125748 | 0.0000994 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.51 | 397 | 491 | 0.808 | 0.0000258 | 5870 |
Missense in Polyphen | 100 | 185.76 | 0.53834 | 2157 | ||
Synonymous | -1.00 | 176 | 160 | 1.10 | 0.00000754 | 1676 |
Loss of Function | 4.41 | 13 | 44.9 | 0.290 | 0.00000238 | 547 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000245 | 0.000242 |
Ashkenazi Jewish | 0.000298 | 0.000198 |
East Asian | 0.000113 | 0.000109 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.0000887 | 0.0000879 |
Middle Eastern | 0.000113 | 0.000109 |
South Asian | 0.0000981 | 0.0000980 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Converts transient diacylglycerol (DAG) signals into prolonged physiological effects, downstream of PKC. Involved in resistance to oxidative stress (By similarity). {ECO:0000250}.;
- Pathway
- Aldosterone synthesis and secretion - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);miRs in Muscle Cell Differentiation;G Protein Signaling Pathways;Metabolism of lipids;Metabolism;Sphingolipid de novo biosynthesis;Sphingolipid metabolism
(Consensus)
Recessive Scores
- pRec
- 0.305
Intolerance Scores
- loftool
- 0.342
- rvis_EVS
- 0.14
- rvis_percentile_EVS
- 63.62
Haploinsufficiency Scores
- pHI
- 0.195
- hipred
- Y
- hipred_score
- 0.554
- ghis
- 0.496
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.549
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Prkd3
- Phenotype
- endocrine/exocrine gland phenotype; immune system phenotype; skeleton phenotype; limbs/digits/tail phenotype; hematopoietic system phenotype;
Gene ontology
- Biological process
- protein phosphorylation;protein kinase C-activating G protein-coupled receptor signaling pathway;sphingolipid biosynthetic process;protein kinase D signaling
- Cellular component
- nucleoplasm;cytosol;membrane
- Molecular function
- protein serine/threonine kinase activity;protein kinase C activity;protein binding;ATP binding;kinase activity;metal ion binding