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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for PDGFRB |
 Gene summary |
| Gene information | Gene symbol | PDGFRB | Gene ID | 5159 |
| Gene name | platelet derived growth factor receptor beta | |
| Synonyms | CD140B|IBGC4|IMF1|JTK12|KOGS|PDGFR|PDGFR-1|PDGFR1|PENTT | |
| Cytomap | 5q32 | |
| Type of gene | protein-coding | |
| Description | platelet-derived growth factor receptor betaActivated tyrosine kinase PDGFRBCD140 antigen-like family member BNDEL1-PDGFRBPDGF-R-betaPDGFR-betabeta-type platelet-derived growth factor receptorplatelet-derived growth factor receptor 1platelet-deriv | |
| Modification date | 20180523 | |
| UniProtAcc | P09619 | |
| Context | PubMed: PDGFRB [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| PDGFRB | GO:0007165 | signal transduction | 10821867 |
| PDGFRB | GO:0010863 | positive regulation of phospholipase C activity | 1653029 |
| PDGFRB | GO:0018108 | peptidyl-tyrosine phosphorylation | 1653029|2536956|2850496 |
| PDGFRB | GO:0030335 | positive regulation of cell migration | 17470632 |
| PDGFRB | GO:0032516 | positive regulation of phosphoprotein phosphatase activity | 7691811 |
| PDGFRB | GO:0038091 | positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway | 17470632 |
| PDGFRB | GO:0043552 | positive regulation of phosphatidylinositol 3-kinase activity | 1314164 |
| PDGFRB | GO:0046777 | protein autophosphorylation | 1314164|2536956|2850496 |
| PDGFRB | GO:0048008 | platelet-derived growth factor receptor signaling pathway | 1314164|2536956 |
| PDGFRB | GO:0060326 | cell chemotaxis | 2554309|17991872 |
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Exon skipping events across known transcript of Ensembl for PDGFRB from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for PDGFRB |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for PDGFRB |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_445314 | 5 | 149503812:149503923:149504289:149504394:149505007:149505083 | 149504289:149504394 | ENSG00000113721.9 | ENST00000261799.4,ENST00000520579.1 |
| exon_skip_445318 | 5 | 149515117:149515441:149516570:149516616:149534959:149535190 | 149516570:149516616 | ENSG00000113721.9 | ENST00000520579.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PDGFRB |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_445314 | 5 | 149503812:149503923:149504289:149504394:149505007:149505083 | 149504289:149504394 | ENSG00000113721.9 | ENST00000261799.4,ENST00000520579.1 |
| exon_skip_445318 | 5 | 149515117:149515441:149516570:149516616:149534959:149535190 | 149516570:149516616 | ENSG00000113721.9 | ENST00000520579.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for PDGFRB |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000261799 | 149504289 | 149504394 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000261799 | 149504289 | 149504394 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PDGFRB |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000261799 | 5734 | 1106 | 149504289 | 149504394 | 2278 | 2382 | 602 | 637 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000261799 | 5734 | 1106 | 149504289 | 149504394 | 2278 | 2382 | 602 | 637 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P09619 | 602 | 637 | 337 | 1106 | Alternative sequence | ID=VSP_056009;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18593464;Dbxref=PMID:18593464 |
| P09619 | 602 | 637 | 634 | 634 | Binding site | Note=ATP;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P09619 | 602 | 637 | 33 | 1106 | Chain | ID=PRO_0000016757;Note=Platelet-derived growth factor receptor beta |
| P09619 | 602 | 637 | 600 | 962 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P09619 | 602 | 637 | 634 | 634 | Mutagenesis | Note=Loss of kinase activity. Abolishes interaction with RASA1. No effect on phosphatidylinositol 3-kinase activity. K->A%2CR;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1314164,ECO:0000269|PubMed:1846866,ECO:0000269|PubM |
| P09619 | 602 | 637 | 606 | 614 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P09619 | 602 | 637 | 554 | 1106 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P09619 | 602 | 637 | 337 | 1106 | Alternative sequence | ID=VSP_056009;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18593464;Dbxref=PMID:18593464 |
| P09619 | 602 | 637 | 634 | 634 | Binding site | Note=ATP;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P09619 | 602 | 637 | 33 | 1106 | Chain | ID=PRO_0000016757;Note=Platelet-derived growth factor receptor beta |
| P09619 | 602 | 637 | 600 | 962 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P09619 | 602 | 637 | 634 | 634 | Mutagenesis | Note=Loss of kinase activity. Abolishes interaction with RASA1. No effect on phosphatidylinositol 3-kinase activity. K->A%2CR;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1314164,ECO:0000269|PubMed:1846866,ECO:0000269|PubM |
| P09619 | 602 | 637 | 606 | 614 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P09619 | 602 | 637 | 554 | 1106 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for PDGFRB |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| NCIBL2052_MATCHED_NORMAL_TISSUE | 149504290 | 149504394 | 149504374 | 149504374 | Missense_Mutation | C | T | p.A610T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PDGFRB |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PDGFRB |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PDGFRB |
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RelatedDrugs for PDGFRB |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P09619 | DB00619 | Imatinib | Platelet-derived growth factor receptor beta | small molecule | approved | |
| P09619 | DB06589 | Pazopanib | Platelet-derived growth factor receptor beta | small molecule | approved | |
| P09619 | DB08896 | Regorafenib | Platelet-derived growth factor receptor beta | small molecule | approved | |
| P09619 | DB00102 | Becaplermin | Platelet-derived growth factor receptor beta | biotech | approved|investigational | |
| P09619 | DB00398 | Sorafenib | Platelet-derived growth factor receptor beta | small molecule | approved|investigational | |
| P09619 | DB01254 | Dasatinib | Platelet-derived growth factor receptor beta | small molecule | approved|investigational | |
| P09619 | DB01268 | Sunitinib | Platelet-derived growth factor receptor beta | small molecule | approved|investigational | |
| P09619 | DB06595 | Midostaurin | Platelet-derived growth factor receptor beta | small molecule | approved|investigational | |
| P09619 | DB12010 | Fostamatinib | Platelet-derived growth factor receptor beta | small molecule | approved|investigational |
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RelatedDiseases for PDGFRB |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PDGFRB | C3554321 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 | 3 | UNIPROT |
| PDGFRB | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
| PDGFRB | C0036341 | Schizophrenia | 2 | PSYGENET |
| PDGFRB | C0432284 | Infantile myofibromatosis | 2 | ORPHANET;UNIPROT |
| PDGFRB | C0004782 | Basal Ganglia Diseases | 1 | CTD_human |
| PDGFRB | C0006663 | Calcinosis | 1 | CTD_human |
| PDGFRB | C0036337 | Schizoaffective Disorder | 1 | PSYGENET |
| PDGFRB | C1866182 | Penttinen-Aula syndrome | 1 | ORPHANET;UNIPROT |
| PDGFRB | C4225270 | KOSAKI OVERGROWTH SYNDROME | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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