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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 PTK6 |
Gene summary |
| Gene information | Gene symbol | PTK6 | Gene ID | 5753 |
| Gene name | protein tyrosine kinase 6 | |
| Synonyms | BRK | |
| Cytomap | 20q13.33 | |
| Type of gene | protein-coding | |
| Description | protein-tyrosine kinase 6PTK6 protein tyrosine kinase 6breast tumor kinaseprotein-tyrosine kinase BRKtyrosine-protein kinase BRK | |
| Modification date | 20180523 | |
| UniProtAcc | Q13882 | |
| Context | PubMed: PTK6 [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 |
| PTK6 | GO:0007260 | tyrosine phosphorylation of STAT protein | 16568091|17997837 |
| PTK6 | GO:0016477 | cell migration | 15572663 |
| PTK6 | GO:0061099 | negative regulation of protein tyrosine kinase activity | 15539407 |
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Exon skipping events across known transcript of Ensembl for PTK6 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 PTK6 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for PTK6 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_358672 | 20 | 62162098:62162280:62163878:62164040:62164903:62165057 | 62163878:62164040 | ENSG00000101213.5 | ENST00000542869.1,ENST00000217185.2 |
| exon_skip_358678 | 20 | 62164903:62165057:62165504:62165668:62168437:62168695 | 62165504:62165668 | ENSG00000101213.5 | ENST00000542869.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PTK6 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_358672 | 20 | 62162098:62162280:62163878:62164040:62164903:62165057 | 62163878:62164040 | ENSG00000101213.5 | ENST00000217185.2,ENST00000542869.1 |
| exon_skip_358678 | 20 | 62164903:62165057:62165504:62165668:62168437:62168695 | 62165504:62165668 | ENSG00000101213.5 | ENST00000542869.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for PTK6 |
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 |
| ENST00000542869 | 62165504 | 62165668 | Frame-shift |
| ENST00000542869 | 62163878 | 62164040 | 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 |
| ENST00000542869 | 62165504 | 62165668 | Frame-shift |
| ENST00000542869 | 62163878 | 62164040 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PTK6 |
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 |
| ENST00000542869 | 1498 | 451 | 62163878 | 62164040 | 605 | 766 | 122 | 176 |
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 |
| ENST00000542869 | 1498 | 451 | 62163878 | 62164040 | 605 | 766 | 122 | 176 |
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 |
| Q13882 | 122 | 176 | 78 | 134 | Alternative sequence | ID=VSP_042066;Note=In isoform 2. WFFGCISRSEAVRRLQAEGNATGAFLIRVSEKPSADYVLSVRDTQAVRHYKIWRRAG->AGHAGCAALQDLAACRGPAAPERGGVLPQPARACELPQGPEPVPRPAAGRALPEARA;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9333026;Dbx |
| Q13882 | 122 | 176 | 135 | 451 | Alternative sequence | ID=VSP_042067;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9333026;Dbxref=PMID:14702039,PMID:9333026 |
| Q13882 | 122 | 176 | 125 | 131 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJA |
| Q13882 | 122 | 176 | 133 | 135 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJA |
| Q13882 | 122 | 176 | 137 | 140 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJA |
| Q13882 | 122 | 176 | 143 | 147 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJA |
| Q13882 | 122 | 176 | 162 | 164 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJA |
| Q13882 | 122 | 176 | 1 | 451 | Chain | ID=PRO_0000088133;Note=Protein-tyrosine kinase 6 |
| Q13882 | 122 | 176 | 78 | 170 | Domain | Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191 |
| Q13882 | 122 | 176 | 148 | 157 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJA |
| Q13882 | 122 | 176 | 171 | 190 | Region | Note=Linker |
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 |
| Q13882 | 122 | 176 | 78 | 134 | Alternative sequence | ID=VSP_042066;Note=In isoform 2. WFFGCISRSEAVRRLQAEGNATGAFLIRVSEKPSADYVLSVRDTQAVRHYKIWRRAG->AGHAGCAALQDLAACRGPAAPERGGVLPQPARACELPQGPEPVPRPAAGRALPEARA;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9333026;Dbx |
| Q13882 | 122 | 176 | 135 | 451 | Alternative sequence | ID=VSP_042067;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9333026;Dbxref=PMID:14702039,PMID:9333026 |
| Q13882 | 122 | 176 | 125 | 131 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJA |
| Q13882 | 122 | 176 | 133 | 135 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJA |
| Q13882 | 122 | 176 | 137 | 140 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJA |
| Q13882 | 122 | 176 | 143 | 147 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJA |
| Q13882 | 122 | 176 | 162 | 164 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJA |
| Q13882 | 122 | 176 | 1 | 451 | Chain | ID=PRO_0000088133;Note=Protein-tyrosine kinase 6 |
| Q13882 | 122 | 176 | 78 | 170 | Domain | Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191 |
| Q13882 | 122 | 176 | 148 | 157 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJA |
| Q13882 | 122 | 176 | 171 | 190 | Region | Note=Linker |
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SNVs in the skipped exons for PTK6 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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-DD-A39Y-01 | exon_skip_358672 | 62163879 | 62164040 | 62163934 | 62163934 | Frame_Shift_Del | G | - | p.P259fs |
- 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 |
| SNU1040_LARGE_INTESTINE | 62163879 | 62164040 | 62163881 | 62163881 | Missense_Mutation | C | T | p.R277H |
| HS819T_FIBROBLAST | 62163879 | 62164040 | 62163954 | 62163954 | Missense_Mutation | C | T | p.V253M |
| SNU349_KIDNEY | 62163879 | 62164040 | 62163960 | 62163960 | Missense_Mutation | A | G | p.Y251H |
| MJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 62165505 | 62165668 | 62165626 | 62165626 | Missense_Mutation | C | T | p.R132H |
| NCIH1573_LUNG | 62165505 | 62165668 | 62165631 | 62165631 | Missense_Mutation | C | A | p.W130C |
| SNU520_STOMACH | 62163879 | 62164040 | 62164026 | 62164026 | Nonsense_Mutation | G | A | p.Q229* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PTK6 |
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 PTK6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTK6 |
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RelatedDrugs for PTK6 |
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 |
| Q13882 | DB05294 | Vandetanib | Protein-tyrosine kinase 6 | small molecule | approved | |
| Q13882 | DB12010 | Fostamatinib | Protein-tyrosine kinase 6 | small molecule | approved|investigational |
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RelatedDiseases for PTK6 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |