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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 DDR2 |
 Gene summary |
| Gene information | Gene symbol | DDR2 | Gene ID | 4921 |
| Gene name | discoidin domain receptor tyrosine kinase 2 | |
| Synonyms | MIG20a|NTRKR3|TKT|TYRO10 | |
| Cytomap | 1q23.3 | |
| Type of gene | protein-coding | |
| Description | discoidin domain-containing receptor 2CD167 antigen-like family member Bcell migration-inducing protein 20discoidin domain receptor 2discoidin domain receptor family, member 2discoidin domain-containing receptor tyrosine kinase 2hydroxyaryl-protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q16832 | |
| Context | PubMed: DDR2 [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 |
| DDR2 | GO:0018108 | peptidyl-tyrosine phosphorylation | 20004161 |
| DDR2 | GO:0038063 | collagen-activated tyrosine kinase receptor signaling pathway | 16186108 |
| DDR2 | GO:0046777 | protein autophosphorylation | 16186108 |
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Exon skipping events across known transcript of Ensembl for DDR2 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 DDR2 |
| 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 DDR2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_13535 | 1 | 162625000:162625164:162674841:162674921:162688826:162688925 | 162674841:162674921 | ENSG00000162733.12 | ENST00000367922.3 |
| exon_skip_13537 | 1 | 162625000:162625164:162688826:162688935:162722884:162722987 | 162688826:162688935 | ENSG00000162733.12 | ENST00000446985.1,ENST00000367921.3,ENST00000415555.1 |
| exon_skip_13541 | 1 | 162731000:162731244:162735790:162735853:162737018:162737149 | 162735790:162735853 | ENSG00000162733.12 | ENST00000367921.3,ENST00000367922.3 |
| exon_skip_13544 | 1 | 162741813:162742037:162743258:162743386:162745441:162745633 | 162743258:162743386 | ENSG00000162733.12 | ENST00000367921.3,ENST00000367922.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DDR2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_13535 | 1 | 162625000:162625164:162674841:162674921:162688826:162688925 | 162674841:162674921 | ENSG00000162733.12 | ENST00000367922.3 |
| exon_skip_13537 | 1 | 162625000:162625164:162688826:162688935:162722884:162722987 | 162688826:162688935 | ENSG00000162733.12 | ENST00000446985.1,ENST00000415555.1,ENST00000367921.3 |
| exon_skip_13541 | 1 | 162731000:162731244:162735790:162735853:162737018:162737149 | 162735790:162735853 | ENSG00000162733.12 | ENST00000367922.3,ENST00000367921.3 |
| exon_skip_13544 | 1 | 162741813:162742037:162743258:162743386:162745441:162745633 | 162743258:162743386 | ENSG00000162733.12 | ENST00000367922.3,ENST00000367921.3 |
| 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 DDR2 |
| 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 |
| ENST00000367921 | 162688826 | 162688935 | 5CDS-5UTR |
| ENST00000367922 | 162674841 | 162674921 | 5UTR-5UTR |
| ENST00000367921 | 162743258 | 162743386 | Frame-shift |
| ENST00000367922 | 162743258 | 162743386 | Frame-shift |
| ENST00000367921 | 162735790 | 162735853 | In-frame |
| ENST00000367922 | 162735790 | 162735853 | 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 |
| ENST00000367921 | 162688826 | 162688935 | 5CDS-5UTR |
| ENST00000367922 | 162674841 | 162674921 | 5UTR-5UTR |
| ENST00000367921 | 162743258 | 162743386 | Frame-shift |
| ENST00000367922 | 162743258 | 162743386 | Frame-shift |
| ENST00000367921 | 162735790 | 162735853 | In-frame |
| ENST00000367922 | 162735790 | 162735853 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DDR2 |
| 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 |
| ENST00000367921 | 3113 | 855 | 162735790 | 162735853 | 1453 | 1515 | 366 | 387 |
| ENST00000367922 | 10177 | 855 | 162735790 | 162735853 | 1538 | 1600 | 366 | 387 |
| 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 |
| ENST00000367921 | 3113 | 855 | 162735790 | 162735853 | 1453 | 1515 | 366 | 387 |
| ENST00000367922 | 10177 | 855 | 162735790 | 162735853 | 1538 | 1600 | 366 | 387 |
| 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 |
| Q16832 | 366 | 387 | 22 | 855 | Chain | ID=PRO_0000016746;Note=Discoidin domain-containing receptor 2 |
| Q16832 | 366 | 387 | 22 | 855 | Chain | ID=PRO_0000016746;Note=Discoidin domain-containing receptor 2 |
| Q16832 | 366 | 387 | 372 | 372 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q16832 | 366 | 387 | 372 | 372 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q16832 | 366 | 387 | 22 | 399 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q16832 | 366 | 387 | 22 | 399 | 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 |
| Q16832 | 366 | 387 | 22 | 855 | Chain | ID=PRO_0000016746;Note=Discoidin domain-containing receptor 2 |
| Q16832 | 366 | 387 | 22 | 855 | Chain | ID=PRO_0000016746;Note=Discoidin domain-containing receptor 2 |
| Q16832 | 366 | 387 | 372 | 372 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q16832 | 366 | 387 | 372 | 372 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q16832 | 366 | 387 | 22 | 399 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q16832 | 366 | 387 | 22 | 399 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for DDR2 |
| - 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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_13537 | 162688827 | 162688935 | 162688878 | 162688878 | Frame_Shift_Del | T | - | p.L9fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_13544 | 162743259 | 162743386 | 162743311 | 162743311 | Frame_Shift_Del | C | - | p.A594fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_13544 | 162743259 | 162743386 | 162743339 | 162743339 | Frame_Shift_Del | C | - | p.V603fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_13544 | 162743259 | 162743386 | 162743352 | 162743352 | Frame_Shift_Del | A | - | p.K608fs |
| SKCM | TCGA-D3-A8GP-06 | exon_skip_13537 | 162688827 | 162688935 | 162688923 | 162688923 | Nonsense_Mutation | C | T | p.Q24* |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_13544 | 162743259 | 162743386 | 162743361 | 162743361 | Nonsense_Mutation | C | T | p.R611* |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_13544 | 162743259 | 162743386 | 162743361 | 162743361 | Nonsense_Mutation | C | T | p.R611X |
| - 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 |
| MFE319_ENDOMETRIUM | 162735791 | 162735853 | 162735841 | 162735841 | Frame_Shift_Del | C | - | p.P384fs |
| NCIH810_LUNG | 162735791 | 162735853 | 162735803 | 162735805 | In_Frame_Del | ACA | - | p.N373del |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 162688827 | 162688935 | 162688908 | 162688908 | Missense_Mutation | A | G | p.S19G |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 162735791 | 162735853 | 162735815 | 162735815 | Missense_Mutation | A | G | p.E375G |
| SNU245_BILIARY_TRACT | 162735791 | 162735853 | 162735845 | 162735845 | Missense_Mutation | C | A | p.T385K |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 162743259 | 162743386 | 162743299 | 162743299 | Missense_Mutation | A | G | p.D590G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DDR2 |
| 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 DDR2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DDR2 |
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RelatedDrugs for DDR2 |
| 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 |
| Q16832 | DB08896 | Regorafenib | Discoidin domain-containing receptor 2 | small molecule | approved | |
| Q16832 | DB12010 | Fostamatinib | Discoidin domain-containing receptor 2 | small molecule | approved|investigational |
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RelatedDiseases for DDR2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DDR2 | C1849011 | SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE | 2 | CTD_human;ORPHANET;UNIPROT |
| DDR2 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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