PPARD
peroxisome proliferator activated receptor delta, the group of Peroxisome proliferator activated receptors
Basic information
Region (hg38): 6:35342558-35428191
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 PPARD 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 | 18 | 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 | 18 | 1 | 0 |
Variants in PPARD
This is a list of pathogenic ClinVar variants found in the PPARD region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 6-35411121-C-T | not specified | Uncertain significance (Dec 20, 2021) | ||
| 6-35411148-G-C | not specified | Uncertain significance (Jan 20, 2023) | ||
| 6-35411206-G-A | not specified | Uncertain significance (Apr 11, 2023) | ||
| 6-35420192-T-G | not specified | Uncertain significance (Nov 14, 2023) | ||
| 6-35420198-G-A | not specified | Uncertain significance (Apr 28, 2022) | ||
| 6-35420228-G-A | not specified | Uncertain significance (Aug 17, 2022) | ||
| 6-35421842-G-A | not specified | Uncertain significance (Dec 08, 2023) | ||
| 6-35423994-C-T | not specified | Uncertain significance (Jul 06, 2022) | ||
| 6-35424028-C-A | not specified | Uncertain significance (Sep 27, 2022) | ||
| 6-35424095-A-G | not specified | Uncertain significance (Oct 29, 2021) | ||
| 6-35424144-C-G | not specified | Uncertain significance (Aug 16, 2022) | ||
| 6-35424147-C-T | not specified | Uncertain significance (Jun 17, 2024) | ||
| 6-35424344-G-A | not specified | Uncertain significance (Jan 09, 2024) | ||
| 6-35424537-T-C | not specified | Uncertain significance (May 20, 2024) | ||
| 6-35424575-G-A | not specified | Uncertain significance (May 20, 2024) | ||
| 6-35424590-A-G | not specified | Uncertain significance (Nov 09, 2021) | ||
| 6-35424593-G-A | not specified | Uncertain significance (Jul 21, 2021) | ||
| 6-35424654-G-A | not specified | Uncertain significance (Dec 14, 2021) | ||
| 6-35425852-G-A | not specified | Uncertain significance (Jul 14, 2022) | ||
| 6-35425879-A-T | not specified | Uncertain significance (Oct 29, 2021) | ||
| 6-35425987-G-A | not specified | Uncertain significance (May 10, 2022) | ||
| 6-35426036-C-T | not specified | Likely benign (Dec 07, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| PPARD | protein_coding | protein_coding | ENST00000311565 | 6 | 85634 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.995 | 0.00502 | 125738 | 0 | 9 | 125747 | 0.0000358 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.48 | 163 | 280 | 0.583 | 0.0000185 | 2912 |
| Missense in Polyphen | 51 | 118.74 | 0.4295 | 1211 | ||
| Synonymous | 0.712 | 105 | 115 | 0.915 | 0.00000785 | 848 |
| Loss of Function | 3.67 | 0 | 15.7 | 0.00 | 6.68e-7 | 199 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000208 | 0.000207 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000281 | 0.0000264 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Ligand-activated transcription factor. Receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Has a preference for poly-unsaturated fatty acids, such as gamma-linoleic acid and eicosapentanoic acid. Once activated by a ligand, the receptor binds to promoter elements of target genes. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the acyl-CoA oxidase gene. Decreases expression of NPC1L1 once activated by a ligand. {ECO:0000269|PubMed:1333051, ECO:0000269|PubMed:15604518}.;
- Pathway
- Acute myeloid leukemia - Homo sapiens (human);PPAR signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Wnt signaling pathway - Homo sapiens (human);NHR;Energy Metabolism;Nuclear Receptors;Adipogenesis;Ectoderm Differentiation;Vitamin D Receptor Pathway;Nuclear Receptors Meta-Pathway;NRF2 pathway;Nuclear Receptors in Lipid Metabolism and Toxicity;Wnt-beta-catenin Signaling Pathway in Leukemia;PPAR signaling pathway;Wnt Signaling Pathway and Pluripotency;Liver steatosis AOP;SCFA and skeletal muscle substrate metabolism;Signal Transduction;Gene expression (Transcription);wnt signaling pathway;Generic Transcription Pathway;Metabolism of lipids;Regulation of pyruvate dehydrogenase (PDH) complex;Pyruvate metabolism;basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression;Pyruvate metabolism and Citric Acid (TCA) cycle;Import of palmitoyl-CoA into the mitochondrial matrix;Nuclear Receptor transcription pathway;RNA Polymerase II Transcription;The citric acid (TCA) cycle and respiratory electron transport;Metabolism;Fatty acid metabolism;Signaling by Retinoic Acid;Signaling by Nuclear Receptors;RXR and RAR heterodimerization with other nuclear receptor;Presenilin action in Notch and Wnt signaling
(Consensus)
Recessive Scores
- pRec
- 0.610
Intolerance Scores
- loftool
- 0.0103
- rvis_EVS
- -0.58
- rvis_percentile_EVS
- 18.44
Haploinsufficiency Scores
- pHI
- 0.675
- hipred
- Y
- hipred_score
- 0.825
- ghis
- 0.601
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.991
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ppard
- Phenotype
- nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; skeleton phenotype; immune system phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; neoplasm; reproductive system 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); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); hematopoietic system phenotype; growth/size/body region phenotype; muscle phenotype; cellular phenotype; homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan);
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;glucose metabolic process;proteoglycan metabolic process;generation of precursor metabolites and energy;regulation of transcription by RNA polymerase II;transcription initiation from RNA polymerase II promoter;lipid metabolic process;fatty acid metabolic process;fatty acid beta-oxidation;vitamin A metabolic process;apoptotic process;multicellular organism development;heart development;embryo implantation;cholesterol metabolic process;cell population proliferation;axon ensheathment;phospholipid biosynthetic process;fatty acid catabolic process;mRNA transcription;response to glucose;hormone-mediated signaling pathway;negative regulation of cholesterol storage;positive regulation of phosphatidylinositol 3-kinase signaling;response to activity;regulation of skeletal muscle satellite cell proliferation;negative regulation of smooth muscle cell migration;fatty acid transport;regulation of lipid metabolic process;cell differentiation;negative regulation of cell growth;intracellular receptor signaling pathway;cell-substrate adhesion;positive regulation of insulin secretion;negative regulation of collagen biosynthetic process;response to vitamin A;response to lipid;wound healing;negative regulation of apoptotic process;steroid hormone mediated signaling pathway;positive regulation of skeletal muscle tissue regeneration;keratinocyte proliferation;positive regulation of fat cell differentiation;negative regulation of myoblast differentiation;positive regulation of epidermis development;negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;decidualization;negative regulation of smooth muscle cell proliferation;negative regulation of epithelial cell proliferation;negative regulation of inflammatory response;keratinocyte migration;adipose tissue development;cellular response to lipopolysaccharide;cellular response to hypoxia;apoptotic signaling pathway;positive regulation of blood vessel diameter;negative regulation of pri-miRNA transcription by RNA polymerase II;glucose transmembrane transport;positive regulation of myoblast proliferation
- Cellular component
- nuclear chromatin;nucleus;nucleoplasm;RNA polymerase II transcription factor complex
- Molecular function
- transcription regulatory region sequence-specific DNA binding;RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;RNA polymerase II repressing transcription factor binding;DNA-binding transcription repressor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;steroid hormone receptor activity;nuclear receptor activity;fatty acid binding;protein binding;transcription factor binding;drug binding;zinc ion binding;lipid binding;nuclear receptor transcription coactivator activity;signaling receptor activity;protein heterodimerization activity;NF-kappaB binding;linoleic acid binding