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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 MINK1 |
 Gene summary |
| Gene information | Gene symbol | MINK1 | Gene ID | 50488 |
| Gene name | misshapen like kinase 1 | |
| Synonyms | B55|MAP4K6|MINK|YSK2|ZC3 | |
| Cytomap | 17p13.2 | |
| Type of gene | protein-coding | |
| Description | misshapen-like kinase 1GCK family kinase MINKMAPK/ERK kinase kinase kinase 6MEK kinase kinase 6MEKKK 6misshapen/NIK-related kinasemitogen-activated protein kinase kinase kinase kinase 6 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8N4C8 | |
| Context | PubMed: MINK1 [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 |
| MINK1 | GO:0046777 | protein autophosphorylation | 15469942 |
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Exon skipping events across known transcript of Ensembl for MINK1 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 MINK1 |
| 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 MINK1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_148100 | 17 | 4736915:4736935:4762507:4762623:4781611:4781677 | 4762507:4762623 | ENSG00000141503.11 | ENST00000574453.1 |
| exon_skip_148106 | 17 | 4793811:4794030:4794245:4794419:4794750:4795011 | 4794245:4794419 | ENSG00000141503.11 | ENST00000571207.1,ENST00000355280.6,ENST00000574453.1,ENST00000347992.7 |
| exon_skip_148110 | 17 | 4795452:4795529:4795696:4795807:4795950:4796063 | 4795696:4795807 | ENSG00000141503.11 | ENST00000355280.6,ENST00000453408.3 |
| exon_skip_148112 | 17 | 4795950:4796063:4796273:4796362:4796728:4796892 | 4796273:4796362 | ENSG00000141503.11 | ENST00000355280.6,ENST00000574453.1,ENST00000453408.3 |
| exon_skip_148114 | 17 | 4796273:4796362:4796580:4796604:4796728:4796892 | 4796580:4796604 | ENSG00000141503.11 | ENST00000571207.1,ENST00000572330.1,ENST00000347992.7 |
| exon_skip_148116 | 17 | 4796728:4796892:4797282:4797388:4797468:4797511 | 4797282:4797388 | ENSG00000141503.11 | ENST00000571207.1,ENST00000355280.6,ENST00000574453.1,ENST00000453408.3,ENST00000572330.1,ENST00000347992.7 |
| exon_skip_148118 | 17 | 4797468:4797606:4797819:4797928:4798369:4798537 | 4797819:4797928 | ENSG00000141503.11 | ENST00000571207.1,ENST00000355280.6,ENST00000574453.1,ENST00000453408.3,ENST00000572330.1,ENST00000347992.7 |
| exon_skip_148121 | 17 | 4797819:4797928:4798369:4798537:4798644:4798788 | 4798369:4798537 | ENSG00000141503.11 | ENST00000571207.1,ENST00000355280.6,ENST00000574453.1,ENST00000453408.3,ENST00000572330.1,ENST00000347992.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MINK1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_148100 | 17 | 4736915:4736935:4762507:4762623:4781611:4781677 | 4762507:4762623 | ENSG00000141503.11 | ENST00000574453.1 |
| exon_skip_148106 | 17 | 4793811:4794030:4794245:4794419:4794750:4795011 | 4794245:4794419 | ENSG00000141503.11 | ENST00000355280.6,ENST00000347992.7,ENST00000574453.1,ENST00000571207.1 |
| exon_skip_148110 | 17 | 4795452:4795529:4795696:4795807:4795950:4796063 | 4795696:4795807 | ENSG00000141503.11 | ENST00000355280.6,ENST00000453408.3 |
| exon_skip_148112 | 17 | 4795950:4796063:4796273:4796362:4796728:4796892 | 4796273:4796362 | ENSG00000141503.11 | ENST00000355280.6,ENST00000574453.1,ENST00000453408.3 |
| exon_skip_148114 | 17 | 4796273:4796362:4796580:4796604:4796728:4796892 | 4796580:4796604 | ENSG00000141503.11 | ENST00000572330.1,ENST00000347992.7,ENST00000571207.1 |
| exon_skip_148116 | 17 | 4796728:4796892:4797282:4797388:4797468:4797511 | 4797282:4797388 | ENSG00000141503.11 | ENST00000355280.6,ENST00000572330.1,ENST00000347992.7,ENST00000574453.1,ENST00000453408.3,ENST00000571207.1 |
| exon_skip_148118 | 17 | 4797468:4797606:4797819:4797928:4798369:4798537 | 4797819:4797928 | ENSG00000141503.11 | ENST00000355280.6,ENST00000572330.1,ENST00000347992.7,ENST00000574453.1,ENST00000453408.3,ENST00000571207.1 |
| exon_skip_148121 | 17 | 4797819:4797928:4798369:4798537:4798644:4798788 | 4798369:4798537 | ENSG00000141503.11 | ENST00000355280.6,ENST00000572330.1,ENST00000347992.7,ENST00000574453.1,ENST00000453408.3,ENST00000571207.1 |
| 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 MINK1 |
| 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 |
| ENST00000355280 | 4796273 | 4796362 | Frame-shift |
| ENST00000355280 | 4797282 | 4797388 | Frame-shift |
| ENST00000355280 | 4797819 | 4797928 | Frame-shift |
| ENST00000355280 | 4794245 | 4794419 | In-frame |
| ENST00000355280 | 4795696 | 4795807 | In-frame |
| ENST00000355280 | 4798369 | 4798537 | 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 |
| ENST00000355280 | 4796273 | 4796362 | Frame-shift |
| ENST00000355280 | 4797282 | 4797388 | Frame-shift |
| ENST00000355280 | 4797819 | 4797928 | Frame-shift |
| ENST00000355280 | 4794245 | 4794419 | In-frame |
| ENST00000355280 | 4795696 | 4795807 | In-frame |
| ENST00000355280 | 4798369 | 4798537 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MINK1 |
| 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 |
| ENST00000355280 | 4978 | 1332 | 4794245 | 4794419 | 1763 | 1936 | 522 | 580 |
| ENST00000355280 | 4978 | 1332 | 4795696 | 4795807 | 2284 | 2394 | 696 | 732 |
| ENST00000355280 | 4978 | 1332 | 4798369 | 4798537 | 3114 | 3281 | 972 | 1028 |
| 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 |
| ENST00000355280 | 4978 | 1332 | 4794245 | 4794419 | 1763 | 1936 | 522 | 580 |
| ENST00000355280 | 4978 | 1332 | 4795696 | 4795807 | 2284 | 2394 | 696 | 732 |
| ENST00000355280 | 4978 | 1332 | 4798369 | 4798537 | 3114 | 3281 | 972 | 1028 |
| 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 |
| Q8N4C8 | 522 | 580 | 1 | 1332 | Chain | ID=PRO_0000086329;Note=Misshapen-like kinase 1 |
| Q8N4C8 | 522 | 580 | 542 | 729 | Compositional bias | Note=Pro-rich |
| Q8N4C8 | 696 | 732 | 696 | 732 | Alternative sequence | ID=VSP_007059;Note=In isoform 1%2C isoform 2 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10708748;Dbxref=PMID:10708748 |
| Q8N4C8 | 696 | 732 | 1 | 1332 | Chain | ID=PRO_0000086329;Note=Misshapen-like kinase 1 |
| Q8N4C8 | 696 | 732 | 542 | 729 | Compositional bias | Note=Pro-rich |
| Q8N4C8 | 696 | 732 | 701 | 701 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8N4C8 | 972 | 1028 | 1 | 1332 | Chain | ID=PRO_0000086329;Note=Misshapen-like kinase 1 |
| Q8N4C8 | 972 | 1028 | 1019 | 1306 | Domain | Note=CNH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00795 |
| Q8N4C8 | 972 | 1028 | 1010 | 1010 | Natural variant | ID=VAR_046061;Note=In a gastric adenocarcinoma sample%3B somatic mutation. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846 |
| Q8N4C8 | 972 | 1028 | 866 | 1332 | Region | Note=Mediates interaction with RAP2A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18930710;Dbxref=PMID:18930710 |
| 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 |
| Q8N4C8 | 522 | 580 | 1 | 1332 | Chain | ID=PRO_0000086329;Note=Misshapen-like kinase 1 |
| Q8N4C8 | 522 | 580 | 542 | 729 | Compositional bias | Note=Pro-rich |
| Q8N4C8 | 696 | 732 | 696 | 732 | Alternative sequence | ID=VSP_007059;Note=In isoform 1%2C isoform 2 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10708748;Dbxref=PMID:10708748 |
| Q8N4C8 | 696 | 732 | 1 | 1332 | Chain | ID=PRO_0000086329;Note=Misshapen-like kinase 1 |
| Q8N4C8 | 696 | 732 | 542 | 729 | Compositional bias | Note=Pro-rich |
| Q8N4C8 | 696 | 732 | 701 | 701 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8N4C8 | 972 | 1028 | 1 | 1332 | Chain | ID=PRO_0000086329;Note=Misshapen-like kinase 1 |
| Q8N4C8 | 972 | 1028 | 1019 | 1306 | Domain | Note=CNH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00795 |
| Q8N4C8 | 972 | 1028 | 1010 | 1010 | Natural variant | ID=VAR_046061;Note=In a gastric adenocarcinoma sample%3B somatic mutation. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846 |
| Q8N4C8 | 972 | 1028 | 866 | 1332 | Region | Note=Mediates interaction with RAP2A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18930710;Dbxref=PMID:18930710 |
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SNVs in the skipped exons for MINK1 |
| - 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. |
MINK1_STAD_exon_skip_148114_psi_boxplot.png |
| - 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-HU-A4HD-01 | exon_skip_148106 | 4794246 | 4794419 | 4794324 | 4794324 | Frame_Shift_Del | C | - | p.P549fs |
| COAD | TCGA-F4-6570-01 | exon_skip_148110 | 4795697 | 4795807 | 4795720 | 4795720 | Frame_Shift_Del | A | - | p.Q684fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_148114 | 4796581 | 4796604 | 4796590 | 4796590 | Nonsense_Mutation | C | T | p.R767* |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_148114 | 4796581 | 4796604 | 4796590 | 4796590 | Nonsense_Mutation | C | T | p.R767X |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_148121 | 4798370 | 4798537 | 4798501 | 4798501 | Nonsense_Mutation | C | T | p.R1017* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-VQ-A8P2-01 |
| Cancer type: STAD | |
| ESID: exon_skip_148114 | |
| Skipped exon start: 4796581 | |
| Skipped exon end: 4796604 | |
| Mutation start: 4796590 | |
| Mutation end: 4796590 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R767X | |
| Sample: TCGA-VQ-A8P2-01 |
| Cancer type: STAD | |
| ESID: exon_skip_148114 | |
| Skipped exon start: 4796581 | |
| Skipped exon end: 4796604 | |
| Mutation start: 4796590 | |
| Mutation end: 4796590 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R767* | |
exon_skip_102588_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_122541_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_128780_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_143382_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_143383_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_148114_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_287192_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_291811_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_320689_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_320690_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_328488_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_356820_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_356824_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_375393_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_381459_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_3837_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_387613_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_431990_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_440277_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_443275_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_448545_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_470847_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_481483_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_5195_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_5826_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_74538_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_91142_STAD_TCGA-VQ-A8P2-01.png | |
exon_skip_91143_STAD_TCGA-VQ-A8P2-01.png | |
| - 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 |
| NCIH1836_LUNG | 4794246 | 4794419 | 4794336 | 4794337 | Frame_Shift_Ins | - | A | p.Q553fs |
| SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4794246 | 4794419 | 4794374 | 4794375 | Missense_Mutation | TC | GA | p.P566T |
| SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4794246 | 4794419 | 4794375 | 4794375 | Missense_Mutation | C | A | p.P566T |
| RL952_ENDOMETRIUM | 4794246 | 4794419 | 4794391 | 4794391 | Missense_Mutation | C | A | p.P571Q |
| SLR24_KIDNEY | 4795697 | 4795807 | 4795738 | 4795738 | Missense_Mutation | G | A | p.R710Q |
| SNU1040_LARGE_INTESTINE | 4795697 | 4795807 | 4795746 | 4795746 | Missense_Mutation | C | T | p.R713W |
| COLO792_SKIN | 4795697 | 4795807 | 4795777 | 4795777 | Missense_Mutation | C | T | p.A723V |
| IGR1_SKIN | 4796274 | 4796362 | 4796280 | 4796280 | Missense_Mutation | C | T | p.S773F |
| SKNBE2_AUTONOMIC_GANGLIA | 4796274 | 4796362 | 4796321 | 4796321 | Missense_Mutation | G | A | p.A787T |
| HEC151_ENDOMETRIUM | 4796274 | 4796362 | 4796348 | 4796348 | Missense_Mutation | C | T | p.P796S |
| KYSE180_OESOPHAGUS | 4797283 | 4797388 | 4797329 | 4797329 | Missense_Mutation | G | C | p.V871L |
| MKN1_STOMACH | 4797283 | 4797388 | 4797329 | 4797329 | Missense_Mutation | G | C | p.V871L |
| SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4797283 | 4797388 | 4797342 | 4797342 | Missense_Mutation | C | A | p.T875N |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4797820 | 4797928 | 4797827 | 4797827 | Missense_Mutation | C | A | p.S939Y |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4797820 | 4797928 | 4797827 | 4797827 | Missense_Mutation | C | A | p.S939Y |
| NCIH1694_LUNG | 4797283 | 4797388 | 4797350 | 4797350 | Nonsense_Mutation | C | T | p.Q878* |
| HCC1569_BREAST | 4795697 | 4795807 | 4795697 | 4795697 | Splice_Site | A | G | p.R696R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MINK1 |
| 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 MINK1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MINK1 |
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RelatedDrugs for MINK1 |
| 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 |
| Q8N4C8 | DB12010 | Fostamatinib | Misshapen-like kinase 1 | small molecule | approved|investigational |
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RelatedDiseases for MINK1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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