TGFBR3
transforming growth factor beta receptor 3, the group of Proteoglycans
Basic information
Region (hg38): 1:91680343-91906335
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 TGFBR3 gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.
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 | 7 | |||||
| missense | 48 | 56 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 48 | 12 | 3 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| TGFBR3 | protein_coding | protein_coding | ENST00000212355 | 16 | 225991 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00306 | 0.997 | 125724 | 1 | 23 | 125748 | 0.0000954 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.21 | 381 | 453 | 0.840 | 0.0000245 | 5582 |
| Missense in Polyphen | 90 | 143.3 | 0.62807 | 1864 | ||
| Synonymous | -0.523 | 188 | 179 | 1.05 | 0.0000107 | 1677 |
| Loss of Function | 4.01 | 12 | 39.0 | 0.308 | 0.00000217 | 452 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000147 | 0.000147 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000109 | 0.000109 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.0000898 | 0.0000879 |
| Middle Eastern | 0.000109 | 0.000109 |
| South Asian | 0.000163 | 0.000131 |
| Other | 0.000326 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Binds to TGF-beta. Could be involved in capturing and retaining TGF-beta for presentation to the signaling receptors.;
- Pathway
- Extracellular vesicle-mediated signaling in recipient cells;Glucocorticoid Receptor Pathway;Nuclear Receptors Meta-Pathway;TGF-beta Signaling Pathway;Hypothesized Pathways in Pathogenesis of Cardiovascular Disease;TGF-beta Receptor Signaling;TGF_beta_Receptor;TGF-beta receptor signaling
(Consensus)
Recessive Scores
- pRec
- 0.359
Intolerance Scores
- loftool
- 0.283
- rvis_EVS
- 0.18
- rvis_percentile_EVS
- 66.24
Haploinsufficiency Scores
- pHI
- 0.600
- hipred
- Y
- hipred_score
- 0.680
- ghis
- 0.493
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.643
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Tgfbr3
- Phenotype
- cellular phenotype; muscle phenotype; skeleton phenotype; immune system phenotype; limbs/digits/tail phenotype; hematopoietic system phenotype; 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); 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); liver/biliary system phenotype;
Zebrafish Information Network
- Gene name
- tgfbr3
- Affected structure
- dorsal longitudinal anastomotic vessel
- Phenotype tag
- abnormal
- Phenotype quality
- aplastic
Gene ontology
- Biological process
- response to hypoxia;epithelial to mesenchymal transition;liver development;heart morphogenesis;muscular septum morphogenesis;outflow tract morphogenesis;ventricular compact myocardium morphogenesis;immune response;transforming growth factor beta receptor signaling pathway;transforming growth factor beta receptor complex assembly;cell migration;BMP signaling pathway;positive regulation of transforming growth factor beta receptor signaling pathway;negative regulation of transforming growth factor beta receptor signaling pathway;animal organ regeneration;response to follicle-stimulating hormone;response to prostaglandin E;response to luteinizing hormone;intracellular signal transduction;regulation of protein binding;regulation of JNK cascade;negative regulation of epithelial cell proliferation;negative regulation of cellular component movement;ventricular cardiac muscle tissue morphogenesis;cardiac muscle cell proliferation;positive regulation of cardiac muscle cell proliferation;definitive hemopoiesis;cardiac epithelial to mesenchymal transition;definitive erythrocyte differentiation;heart trabecula formation;pathway-restricted SMAD protein phosphorylation;ventricular septum morphogenesis;epicardium-derived cardiac fibroblast cell development;vasculogenesis involved in coronary vascular morphogenesis;heart trabecula morphogenesis;secondary palate development;regulation of ERK1 and ERK2 cascade
- Cellular component
- extracellular space;cytoplasm;integral component of plasma membrane;external side of plasma membrane;cell surface;extracellular matrix;inhibin-betaglycan-ActRII complex;receptor complex;extracellular exosome
- Molecular function
- transforming growth factor beta-activated receptor activity;type II transforming growth factor beta receptor binding;transforming growth factor beta receptor binding;protein binding;glycosaminoglycan binding;heparin binding;coreceptor activity;fibroblast growth factor binding;PDZ domain binding;SMAD binding;activin binding;transforming growth factor beta binding;transforming growth factor beta receptor activity, type III