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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 MATK |
 Gene summary |
| Gene information | Gene symbol | MATK | Gene ID | 4145 |
| Gene name | megakaryocyte-associated tyrosine kinase | |
| Synonyms | CHK|CTK|HHYLTK|HYL|HYLTK|Lsk | |
| Cytomap | 19p13.3 | |
| Type of gene | protein-coding | |
| Description | megakaryocyte-associated tyrosine-protein kinaseCSK homologous kinaseCsk-homologous kinaseCsk-type protein tyrosine kinaseHYL tyrosine kinasehematopoietic consensus tyrosine-lacking kinasehydroxyaryl-protein kinaseleukocyte carboxyl-terminal src ki | |
| Modification date | 20180523 | |
| UniProtAcc | P42679 | |
| Context | PubMed: MATK [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 MATK 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 MATK |
| 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 MATK |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_313100 | 19 | 3777972:3778420:3778506:3778590:3778989:3779185 | 3778506:3778590 | ENSG00000007264.9 | ENST00000585778.1 |
| exon_skip_313101 | 19 | 3777972:3778420:3778506:3778593:3778989:3779185 | 3778506:3778593 | ENSG00000007264.9 | ENST00000395040.2,ENST00000310132.6,ENST00000395045.2 |
| exon_skip_313102 | 19 | 3778506:3778593:3778989:3779185:3779375:3779449 | 3778989:3779185 | ENSG00000007264.9 | ENST00000395040.2,ENST00000310132.6,ENST00000395045.2 |
| exon_skip_313104 | 19 | 3779386:3779449:3779530:3779615:3779695:3779795 | 3779530:3779615 | ENSG00000007264.9 | ENST00000590493.1,ENST00000585778.1,ENST00000395040.2,ENST00000310132.6,ENST00000395045.2,ENST00000588983.1 |
| exon_skip_313106 | 19 | 3779786:3779795:3781604:3781670:3783123:3783217 | 3781604:3781670 | ENSG00000007264.9 | ENST00000590493.1,ENST00000585778.1,ENST00000395040.2,ENST00000310132.6,ENST00000587180.1,ENST00000395045.2 |
| exon_skip_313109 | 19 | 3781604:3781670:3782815:3782935:3783123:3783217 | 3782815:3782935 | ENSG00000007264.9 | ENST00000588983.1 |
| exon_skip_313112 | 19 | 3784822:3784882:3785061:3785284:3786166:3786280 | 3785061:3785284 | ENSG00000007264.9 | ENST00000585778.1,ENST00000310132.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MATK |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_313100 | 19 | 3777972:3778420:3778506:3778590:3778989:3779185 | 3778506:3778590 | ENSG00000007264.9 | ENST00000585778.1 |
| exon_skip_313101 | 19 | 3777972:3778420:3778506:3778593:3778989:3779185 | 3778506:3778593 | ENSG00000007264.9 | ENST00000395040.2,ENST00000310132.6,ENST00000395045.2 |
| exon_skip_313102 | 19 | 3778506:3778593:3778989:3779185:3779375:3779449 | 3778989:3779185 | ENSG00000007264.9 | ENST00000395040.2,ENST00000310132.6,ENST00000395045.2 |
| exon_skip_313104 | 19 | 3779386:3779449:3779530:3779615:3779695:3779795 | 3779530:3779615 | ENSG00000007264.9 | ENST00000395040.2,ENST00000310132.6,ENST00000585778.1,ENST00000395045.2,ENST00000590493.1,ENST00000588983.1 |
| exon_skip_313106 | 19 | 3779786:3779795:3781604:3781670:3783123:3783217 | 3781604:3781670 | ENSG00000007264.9 | ENST00000395040.2,ENST00000310132.6,ENST00000585778.1,ENST00000395045.2,ENST00000590493.1,ENST00000587180.1 |
| exon_skip_313109 | 19 | 3781604:3781670:3782815:3782935:3783123:3783217 | 3782815:3782935 | ENSG00000007264.9 | ENST00000588983.1 |
| exon_skip_313112 | 19 | 3784822:3784882:3785061:3785284:3786166:3786280 | 3785061:3785284 | ENSG00000007264.9 | ENST00000310132.6,ENST00000585778.1 |
| exon_skip_313114 | 19 | 3784822:3784882:3789270:3789402:3801529:3801797 | 3789270:3789402 | ENSG00000007264.9 | ENST00000395045.2 |
| 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 MATK |
| 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 |
| ENST00000310132 | 3785061 | 3785284 | 3UTR-3CDS |
| ENST00000310132 | 3778989 | 3779185 | Frame-shift |
| ENST00000310132 | 3779530 | 3779615 | Frame-shift |
| ENST00000310132 | 3778506 | 3778593 | In-frame |
| ENST00000310132 | 3781604 | 3781670 | 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 |
| ENST00000310132 | 3785061 | 3785284 | 3UTR-3CDS |
| ENST00000310132 | 3778989 | 3779185 | Frame-shift |
| ENST00000310132 | 3779530 | 3779615 | Frame-shift |
| ENST00000310132 | 3778506 | 3778593 | In-frame |
| ENST00000310132 | 3781604 | 3781670 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MATK |
| 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 |
| ENST00000310132 | 2150 | 507 | 3781604 | 3781670 | 1076 | 1141 | 225 | 247 |
| ENST00000310132 | 2150 | 507 | 3778506 | 3778593 | 1597 | 1683 | 399 | 428 |
| 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 |
| ENST00000310132 | 2150 | 507 | 3781604 | 3781670 | 1076 | 1141 | 225 | 247 |
| ENST00000310132 | 2150 | 507 | 3778506 | 3778593 | 1597 | 1683 | 399 | 428 |
| 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 |
| P42679 | 225 | 247 | 1 | 507 | Chain | ID=PRO_0000088073;Note=Megakaryocyte-associated tyrosine-protein kinase |
| P42679 | 225 | 247 | 235 | 482 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P42679 | 225 | 247 | 241 | 249 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P42679 | 399 | 428 | 1 | 507 | Chain | ID=PRO_0000088073;Note=Megakaryocyte-associated tyrosine-protein kinase |
| P42679 | 399 | 428 | 235 | 482 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P42679 | 399 | 428 | 400 | 400 | Sequence conflict | Note=Missing;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 |
| P42679 | 225 | 247 | 1 | 507 | Chain | ID=PRO_0000088073;Note=Megakaryocyte-associated tyrosine-protein kinase |
| P42679 | 225 | 247 | 235 | 482 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P42679 | 225 | 247 | 241 | 249 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P42679 | 399 | 428 | 1 | 507 | Chain | ID=PRO_0000088073;Note=Megakaryocyte-associated tyrosine-protein kinase |
| P42679 | 399 | 428 | 235 | 482 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P42679 | 399 | 428 | 400 | 400 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for MATK |
| - 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 |
| STAD | TCGA-BR-8487-01 | exon_skip_313100 | 3778507 | 3778590 | 3778509 | 3778509 | Frame_Shift_Del | T | - | p.M429fs |
| STAD | TCGA-BR-8487-01 | exon_skip_313101 | 3778507 | 3778593 | 3778509 | 3778509 | Frame_Shift_Del | T | - | p.M429fs |
| LGG | TCGA-P5-A77X-01 | exon_skip_313112 | 3785062 | 3785284 | 3785085 | 3785086 | Frame_Shift_Del | CA | - | p.CD16fs |
| LUAD | TCGA-55-7995-01 | exon_skip_313100 | 3778507 | 3778590 | 3778545 | 3778545 | Nonsense_Mutation | C | A | p.E416* |
| LUAD | TCGA-55-7995-01 | exon_skip_313101 | 3778507 | 3778593 | 3778545 | 3778545 | Nonsense_Mutation | C | A | p.E416* |
| COAD | TCGA-AA-3663-01 | exon_skip_313106 | 3781605 | 3781670 | 3781623 | 3781623 | Nonsense_Mutation | C | A | p.G201X |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_313101 | 3778507 | 3778593 | 3778594 | 3778594 | Splice_Site | C | T | e12-1 |
| - 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 |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3778507 | 3778593 | 3778557 | 3778557 | Frame_Shift_Del | C | - | p.V412fs |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3778507 | 3778590 | 3778557 | 3778557 | Frame_Shift_Del | C | - | p.V412fs |
| HS746T_STOMACH | 3778990 | 3779185 | 3779060 | 3779061 | Frame_Shift_Ins | - | C | p.A376fs |
| NCIH2347_LUNG | 3778990 | 3779185 | 3779060 | 3779061 | Frame_Shift_Ins | - | C | p.A376fs |
| JM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3778507 | 3778593 | 3778542 | 3778542 | Missense_Mutation | C | T | p.V417I |
| JM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3778507 | 3778590 | 3778542 | 3778542 | Missense_Mutation | C | T | p.V417I |
| HEC1_ENDOMETRIUM | 3778507 | 3778593 | 3778543 | 3778543 | Missense_Mutation | C | A | p.E416D |
| HEC1_ENDOMETRIUM | 3778507 | 3778590 | 3778543 | 3778543 | Missense_Mutation | C | A | p.E416D |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3778990 | 3779185 | 3778992 | 3778992 | Missense_Mutation | C | T | p.G399R |
| HCT116_LARGE_INTESTINE | 3778990 | 3779185 | 3779017 | 3779017 | Missense_Mutation | C | G | p.W390C |
| HC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3778990 | 3779185 | 3779036 | 3779036 | Missense_Mutation | C | A | p.S384I |
| SW982_SOFT_TISSUE | 3778990 | 3779185 | 3779049 | 3779049 | Missense_Mutation | C | T | p.G380R |
| NCIH748_LUNG | 3778990 | 3779185 | 3779082 | 3779082 | Missense_Mutation | T | C | p.S369G |
| NCIH1568_LUNG | 3778990 | 3779185 | 3779112 | 3779112 | Missense_Mutation | G | T | p.L359M |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3778990 | 3779185 | 3779135 | 3779135 | Missense_Mutation | C | T | p.R351H |
| TE9_OESOPHAGUS | 3778990 | 3779185 | 3779175 | 3779175 | Missense_Mutation | C | T | p.E338K |
| AGS_STOMACH | 3781605 | 3781670 | 3781619 | 3781619 | Missense_Mutation | T | G | p.E243A |
| EMCBAC1_LUNG | 3785062 | 3785284 | 3785124 | 3785124 | Nonsense_Mutation | G | A | p.R4* |
| MEWO_SKIN | 3781605 | 3781670 | 3781604 | 3781605 | Splice_Site | CC | TT | p.G248N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MATK |
| 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 MATK |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MATK |
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RelatedDrugs for MATK |
| 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 |
| P42679 | DB12010 | Fostamatinib | Megakaryocyte-associated tyrosine-protein kinase | small molecule | approved|investigational |
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RelatedDiseases for MATK |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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