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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 PDGFRL |
 Gene summary |
| Gene information | Gene symbol | PDGFRL | Gene ID | 5157 |
| Gene name | platelet derived growth factor receptor like | |
| Synonyms | PDGRL|PRLTS | |
| Cytomap | 8p22 | |
| Type of gene | protein-coding | |
| Description | platelet-derived growth factor receptor-like proteinPDGF receptor beta-like tumor suppressorPDGFR-like proteinplatelet-derived growth factor-beta-like tumor suppressor | |
| Modification date | 20180329 | |
| UniProtAcc | Q15198 | |
| Context | PubMed: PDGFRL [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 |
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Exon skipping events across known transcript of Ensembl for PDGFRL 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 PDGFRL |
| 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 PDGFRL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_481434 | 8 | 17446976:17447274:17478559:17478711:17485995:17486289 | 17478559:17478711 | ENSG00000104213.8 | ENST00000398074.3,ENST00000541323.1,ENST00000251630.6 |
| exon_skip_481437 | 8 | 17478559:17478711:17485995:17486289:17491582:17491722 | 17485995:17486289 | ENSG00000104213.8 | ENST00000398074.3,ENST00000541323.1,ENST00000251630.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PDGFRL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_481434 | 8 | 17446976:17447274:17478559:17478711:17485995:17486289 | 17478559:17478711 | ENSG00000104213.8 | ENST00000251630.6,ENST00000541323.1,ENST00000398074.3 |
| exon_skip_481437 | 8 | 17478559:17478711:17485995:17486289:17491582:17491722 | 17485995:17486289 | ENSG00000104213.8 | ENST00000251630.6,ENST00000541323.1,ENST00000398074.3 |
| 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 PDGFRL |
| 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 |
| ENST00000251630 | 17478559 | 17478711 | Frame-shift |
| ENST00000541323 | 17478559 | 17478711 | Frame-shift |
| ENST00000251630 | 17485995 | 17486289 | In-frame |
| ENST00000541323 | 17485995 | 17486289 | 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 |
| ENST00000251630 | 17478559 | 17478711 | Frame-shift |
| ENST00000541323 | 17478559 | 17478711 | Frame-shift |
| ENST00000251630 | 17485995 | 17486289 | In-frame |
| ENST00000541323 | 17485995 | 17486289 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PDGFRL |
| 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 |
| ENST00000251630 | 1918 | 375 | 17485995 | 17486289 | 947 | 1240 | 168 | 266 |
| ENST00000541323 | 1922 | 375 | 17485995 | 17486289 | 951 | 1244 | 168 | 266 |
| 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 |
| ENST00000251630 | 1918 | 375 | 17485995 | 17486289 | 947 | 1240 | 168 | 266 |
| ENST00000541323 | 1922 | 375 | 17485995 | 17486289 | 951 | 1244 | 168 | 266 |
| 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 |
| Q15198 | 168 | 266 | 22 | 375 | Chain | ID=PRO_0000233090;Note=Platelet-derived growth factor receptor-like protein |
| Q15198 | 168 | 266 | 22 | 375 | Chain | ID=PRO_0000233090;Note=Platelet-derived growth factor receptor-like protein |
| Q15198 | 168 | 266 | 219 | 219 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q15198 | 168 | 266 | 219 | 219 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q15198 | 168 | 266 | 227 | 227 | Sequence conflict | Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15198 | 168 | 266 | 227 | 227 | Sequence conflict | Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q15198 | 168 | 266 | 22 | 375 | Chain | ID=PRO_0000233090;Note=Platelet-derived growth factor receptor-like protein |
| Q15198 | 168 | 266 | 22 | 375 | Chain | ID=PRO_0000233090;Note=Platelet-derived growth factor receptor-like protein |
| Q15198 | 168 | 266 | 219 | 219 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q15198 | 168 | 266 | 219 | 219 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q15198 | 168 | 266 | 227 | 227 | Sequence conflict | Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15198 | 168 | 266 | 227 | 227 | Sequence conflict | Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for PDGFRL |
| - 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 |
| BLCA | TCGA-ZF-A9RC-01 | exon_skip_481434 | 17478560 | 17478711 | 17478585 | 17478603 | Frame_Shift_Del | CAGTTGACTCTGGTCAACT | - | p.QLTLVNS127fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_481437 | 17485996 | 17486289 | 17486181 | 17486181 | Frame_Shift_Del | T | - | p.F231fs |
| STAD | TCGA-BR-4184-01 | exon_skip_481437 | 17485996 | 17486289 | 17486241 | 17486241 | Frame_Shift_Del | G | - | p.A250fs |
| STAD | TCGA-BR-4184-01 | exon_skip_481437 | 17485996 | 17486289 | 17486241 | 17486241 | Frame_Shift_Del | G | - | p.G251fs |
| - 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 |
| DV90_LUNG | 17478560 | 17478711 | 17478702 | 17478702 | Frame_Shift_Del | T | - | p.F167fs |
| HEC265_ENDOMETRIUM | 17478560 | 17478711 | 17478702 | 17478702 | Frame_Shift_Del | T | - | p.F167fs |
| IGROV1_OVARY | 17485996 | 17486289 | 17486240 | 17486241 | Frame_Shift_Ins | - | G | p.G251fs |
| LMSU_STOMACH | 17478560 | 17478711 | 17478587 | 17478587 | Missense_Mutation | G | T | p.Q127H |
| NCIH1563_LUNG | 17478560 | 17478711 | 17478694 | 17478694 | Missense_Mutation | C | T | p.T163I |
| NCIH1563_LUNG | 17478560 | 17478711 | 17478694 | 17478695 | Missense_Mutation | CC | TG | p.T163M |
| NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17485996 | 17486289 | 17486071 | 17486071 | Missense_Mutation | T | C | p.V194A |
| MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17485996 | 17486289 | 17486079 | 17486079 | Missense_Mutation | C | G | p.R197G |
| HEC6_ENDOMETRIUM | 17485996 | 17486289 | 17486086 | 17486086 | Missense_Mutation | C | T | p.T199I |
| TGBC11TKB_STOMACH | 17485996 | 17486289 | 17486086 | 17486086 | Missense_Mutation | C | T | p.T199I |
| ES8_BONE | 17485996 | 17486289 | 17486107 | 17486107 | Missense_Mutation | C | T | p.T206M |
| VMRCRCW_KIDNEY | 17485996 | 17486289 | 17486205 | 17486205 | Missense_Mutation | G | A | p.E239K |
| MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17485996 | 17486289 | 17486207 | 17486207 | Missense_Mutation | G | T | p.E239D |
| BT474_BREAST | 17485996 | 17486289 | 17486251 | 17486251 | Missense_Mutation | C | G | p.S254C |
| CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17485996 | 17486289 | 17486262 | 17486262 | Missense_Mutation | G | A | p.V258I |
| A549_LUNG | 17478560 | 17478711 | 17478560 | 17478560 | Splice_Site | C | A | p.S118R |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 17485996 | 17486289 | 17486288 | 17486289 | Splice_Site | - | GTTCCCAGT | p.267_267V>VPSV |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PDGFRL |
| 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 PDGFRL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PDGFRL |
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RelatedDrugs for PDGFRL |
| 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 |
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RelatedDiseases for PDGFRL |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PDGFRL | C1527249 | Colorectal Cancer | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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