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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 KDR |
 Gene summary |
| Gene information | Gene symbol | KDR | Gene ID | 3791 |
| Gene name | kinase insert domain receptor | |
| Synonyms | CD309|FLK1|VEGFR|VEGFR2 | |
| Cytomap | 4q12 | |
| Type of gene | protein-coding | |
| Description | vascular endothelial growth factor receptor 2fetal liver kinase-1kinase insert domain receptor (a type III receptor tyrosine kinase)protein-tyrosine kinase receptor Flk-1soluble VEGFR2tyrosine kinase growth factor receptor | |
| Modification date | 20180527 | |
| UniProtAcc | P35968 | |
| Context | PubMed: KDR [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 |
| KDR | GO:0001934 | positive regulation of protein phosphorylation | 19033661 |
| KDR | GO:0008284 | positive regulation of cell proliferation | 7929439 |
| KDR | GO:0008360 | regulation of cell shape | 7929439 |
| KDR | GO:0010629 | negative regulation of gene expression | 26879375 |
| KDR | GO:0014068 | positive regulation of phosphatidylinositol 3-kinase signaling | 9804796 |
| KDR | GO:0018108 | peptidyl-tyrosine phosphorylation | 10037737|10102632 |
| KDR | GO:0030335 | positive regulation of cell migration | 7929439 |
| KDR | GO:0035924 | cellular response to vascular endothelial growth factor stimulus | 10102632|11387210|19033661|23529610 |
| KDR | GO:0038033 | positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway | 21885851 |
| KDR | GO:0043410 | positive regulation of MAPK cascade | 11387210 |
| KDR | GO:0046777 | protein autophosphorylation | 10037737|10102632|19033661 |
| KDR | GO:0048010 | vascular endothelial growth factor receptor signaling pathway | 10102632|11387210|15215251 |
| KDR | GO:0050927 | positive regulation of positive chemotaxis | 7929439 |
| KDR | GO:0051770 | positive regulation of nitric-oxide synthase biosynthetic process | 10600473 |
| KDR | GO:0051894 | positive regulation of focal adhesion assembly | 12820653 |
| KDR | GO:1904881 | cellular response to hydrogen sulfide | 26879375 |
| KDR | GO:2000352 | negative regulation of endothelial cell apoptotic process | 9804796 |
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Exon skipping events across known transcript of Ensembl for KDR 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 KDR |
| 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 KDR |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_429592 | 4 | 55944643:55946330:55948122:55948208:55948702:55948802 | 55948122:55948208 | ENSG00000128052.8 | ENST00000263923.4 |
| exon_skip_429593 | 4 | 55968528:55968675:55970809:55971151:55971998:55972107 | 55970809:55971151 | ENSG00000128052.8 | ENST00000263923.4 |
| exon_skip_429595 | 4 | 55984770:55984967:55987263:55987357:55991393:55991460 | 55987263:55987357 | ENSG00000128052.8 | ENST00000512566.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KDR |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_429592 | 4 | 55944643:55946330:55948122:55948208:55948702:55948802 | 55948122:55948208 | ENSG00000128052.8 | ENST00000263923.4 |
| exon_skip_429593 | 4 | 55968528:55968675:55970809:55971151:55971998:55972107 | 55970809:55971151 | ENSG00000128052.8 | ENST00000263923.4 |
| exon_skip_429595 | 4 | 55984770:55984967:55987263:55987357:55991393:55991460 | 55987263:55987357 | ENSG00000128052.8 | ENST00000512566.1 |
| 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 KDR |
| 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 |
| ENST00000263923 | 55948122 | 55948208 | Frame-shift |
| ENST00000263923 | 55970809 | 55971151 | 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 |
| ENST00000263923 | 55948122 | 55948208 | Frame-shift |
| ENST00000263923 | 55970809 | 55971151 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KDR |
| 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 |
| ENST00000263923 | 5848 | 1356 | 55970809 | 55971151 | 1942 | 2283 | 548 | 662 |
| 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 |
| ENST00000263923 | 5848 | 1356 | 55970809 | 55971151 | 1942 | 2283 | 548 | 662 |
| 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 |
| P35968 | 548 | 662 | 537 | 548 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5OYJ |
| P35968 | 548 | 662 | 20 | 1356 | Chain | ID=PRO_0000016771;Note=Vascular endothelial growth factor receptor 2 |
| P35968 | 548 | 662 | 571 | 642 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| P35968 | 548 | 662 | 421 | 548 | Domain | Note=Ig-like C2-type 5 |
| P35968 | 548 | 662 | 551 | 660 | Domain | Note=Ig-like C2-type 6 |
| P35968 | 548 | 662 | 580 | 580 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35968 | 548 | 662 | 613 | 613 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35968 | 548 | 662 | 619 | 619 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35968 | 548 | 662 | 631 | 631 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35968 | 548 | 662 | 20 | 764 | Topological domain | Note=Extracellular;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 |
| P35968 | 548 | 662 | 537 | 548 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5OYJ |
| P35968 | 548 | 662 | 20 | 1356 | Chain | ID=PRO_0000016771;Note=Vascular endothelial growth factor receptor 2 |
| P35968 | 548 | 662 | 571 | 642 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| P35968 | 548 | 662 | 421 | 548 | Domain | Note=Ig-like C2-type 5 |
| P35968 | 548 | 662 | 551 | 660 | Domain | Note=Ig-like C2-type 6 |
| P35968 | 548 | 662 | 580 | 580 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35968 | 548 | 662 | 613 | 613 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35968 | 548 | 662 | 619 | 619 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35968 | 548 | 662 | 631 | 631 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35968 | 548 | 662 | 20 | 764 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for KDR |
| - 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 |
| LUSC | TCGA-18-3419-01 | exon_skip_429593 | 55970810 | 55971151 | 55970835 | 55970835 | Nonsense_Mutation | G | T | p.C654* |
| SKCM | TCGA-GN-A266-06 | exon_skip_429593 | 55970810 | 55971151 | 55970896 | 55970896 | Nonsense_Mutation | A | T | p.L634* |
| SKCM | TCGA-GN-A266-06 | exon_skip_429593 | 55970810 | 55971151 | 55970896 | 55970896 | Nonsense_Mutation | A | T | p.L634X |
| SKCM | TCGA-FR-A8YC-06 | exon_skip_429593 | 55970810 | 55971151 | 55971088 | 55971088 | Nonsense_Mutation | C | T | p.W570* |
| - 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 |
| MEWO_SKIN | 55948123 | 55948208 | 55948129 | 55948129 | Missense_Mutation | G | A | p.S1281F |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 55948123 | 55948208 | 55948144 | 55948144 | Missense_Mutation | G | T | p.T1276N |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55948123 | 55948208 | 55948163 | 55948163 | Missense_Mutation | T | G | p.K1270Q |
| NCIH2347_LUNG | 55948123 | 55948208 | 55948174 | 55948174 | Missense_Mutation | G | A | p.S1266L |
| TCCSUP_URINARY_TRACT | 55948123 | 55948208 | 55948189 | 55948189 | Missense_Mutation | C | T | p.G1261D |
| MS1_SKIN | 55970810 | 55971151 | 55970819 | 55970819 | Missense_Mutation | T | G | p.T660P |
| MS1_LUNG | 55970810 | 55971151 | 55970819 | 55970819 | Missense_Mutation | T | G | p.T660P |
| MCC13_SKIN | 55970810 | 55971151 | 55970884 | 55970884 | Missense_Mutation | C | T | p.G638E |
| SKMEL5_SKIN | 55970810 | 55971151 | 55970899 | 55970899 | Missense_Mutation | G | A | p.S633F |
| VAL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55970810 | 55971151 | 55970908 | 55970908 | Missense_Mutation | T | G | p.K630T |
| RXF393_KIDNEY | 55970810 | 55971151 | 55970923 | 55970923 | Missense_Mutation | A | G | p.L625S |
| HMC18_BREAST | 55970810 | 55971151 | 55971073 | 55971073 | Missense_Mutation | C | G | p.R575T |
| PANC0203_PANCREAS | 55970810 | 55971151 | 55971098 | 55971098 | Missense_Mutation | C | T | p.V567M |
| DMS53_LUNG | 55970810 | 55971151 | 55971124 | 55971124 | Missense_Mutation | T | G | p.D558A |
| SNU1040_LARGE_INTESTINE | 55987264 | 55987357 | 55987291 | 55987291 | Missense_Mutation | G | T | p.A45D |
| HCC2998_LARGE_INTESTINE | 55987264 | 55987357 | 55987314 | 55987314 | Missense_Mutation | T | G | p.Q37H |
| KM12_LARGE_INTESTINE | 55987264 | 55987357 | 55987349 | 55987349 | Missense_Mutation | T | C | p.S26G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KDR |
| 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 KDR |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KDR |
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RelatedDrugs for KDR |
| 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 |
| P35968 | DB06589 | Pazopanib | Vascular endothelial growth factor receptor 2 | small molecule | approved | |
| P35968 | DB08896 | Regorafenib | Vascular endothelial growth factor receptor 2 | small molecule | approved | |
| P35968 | DB09079 | Nintedanib | Vascular endothelial growth factor receptor 2 | small molecule | approved | |
| P35968 | DB00398 | Sorafenib | Vascular endothelial growth factor receptor 2 | small molecule | approved|investigational | |
| P35968 | DB01268 | Sunitinib | Vascular endothelial growth factor receptor 2 | small molecule | approved|investigational | |
| P35968 | DB05578 | Ramucirumab | Vascular endothelial growth factor receptor 2 | biotech | approved|investigational | |
| P35968 | DB06595 | Midostaurin | Vascular endothelial growth factor receptor 2 | small molecule | approved|investigational | |
| P35968 | DB06626 | Axitinib | Vascular endothelial growth factor receptor 2 | small molecule | approved|investigational | |
| P35968 | DB08875 | Cabozantinib | Vascular endothelial growth factor receptor 2 | small molecule | approved|investigational | |
| P35968 | DB08901 | Ponatinib | Vascular endothelial growth factor receptor 2 | small molecule | approved|investigational | |
| P35968 | DB09078 | Lenvatinib | Vascular endothelial growth factor receptor 2 | small molecule | approved|investigational | |
| P35968 | DB12010 | Fostamatinib | Vascular endothelial growth factor receptor 2 | small molecule | approved|investigational |
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RelatedDiseases for KDR |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| KDR | C1865871 | HEMANGIOMA, CAPILLARY INFANTILE | 2 | CTD_human;UNIPROT |
| KDR | C0001418 | Adenocarcinoma | 1 | CTD_human |
| KDR | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| KDR | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
| KDR | C0014556 | Epilepsy, Temporal Lobe | 1 | CTD_human |
| KDR | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| KDR | C0018923 | Hemangiosarcoma | 1 | CTD_human |
| KDR | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
| KDR | C0027686 | Pathologic Neovascularization | 1 | CTD_human |
| KDR | C0029422 | Osteochondrodysplasias | 1 | CTD_human |
| KDR | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| KDR | C0035126 | Reperfusion Injury | 1 | CTD_human |
| KDR | C0036341 | Schizophrenia | 1 | CTD_human |
| KDR | C0041696 | Unipolar Depression | 1 | PSYGENET |
| KDR | C0041948 | Uremia | 1 | CTD_human |
| KDR | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| KDR | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| KDR | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| KDR | C2937358 | Cerebral Hemorrhage | 1 | CTD_human |
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