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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 MARK1 |
 Gene summary |
| Gene information | Gene symbol | MARK1 | Gene ID | 4139 |
| Gene name | microtubule affinity regulating kinase 1 | |
| Synonyms | MARK|Par-1c|Par1c | |
| Cytomap | 1q41 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein kinase MARK1MAP/microtubule affinity-regulating kinase 1PAR1 homolog c | |
| Modification date | 20180523 | |
| UniProtAcc | Q9P0L2 | |
| Context | PubMed: MARK1 [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 |
| MARK1 | GO:0006468 | protein phosphorylation | 14976552 |
| MARK1 | GO:0035556 | intracellular signal transduction | 14976552 |
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Exon skipping events across known transcript of Ensembl for MARK1 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 MARK1 |
| 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 MARK1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_18083 | 1 | 220702191:220702215:220749987:220750078:220752695:220752850 | 220749987:220750078 | ENSG00000116141.11 | ENST00000485104.1 |
| exon_skip_18086 | 1 | 220771672:220771721:220773139:220773205:220777408:220777479 | 220773139:220773205 | ENSG00000116141.11 | ENST00000402574.1,ENST00000366917.4 |
| exon_skip_18087 | 1 | 220773139:220773205:220777408:220777479:220789280:220789337 | 220777408:220777479 | ENSG00000116141.11 | ENST00000402574.1,ENST00000366917.4 |
| exon_skip_18089 | 1 | 220809174:220809368:220823961:220824062:220825327:220825492 | 220823961:220824062 | ENSG00000116141.11 | ENST00000402574.1,ENST00000366918.4,ENST00000366917.4 |
| exon_skip_18090 | 1 | 220826442:220826694:220831131:220831176:220835153:220835800 | 220831131:220831176 | ENSG00000116141.11 | ENST00000366917.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MARK1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_18083 | 1 | 220702191:220702215:220749987:220750078:220752695:220752850 | 220749987:220750078 | ENSG00000116141.11 | ENST00000485104.1 |
| exon_skip_18086 | 1 | 220771672:220771721:220773139:220773205:220777408:220777479 | 220773139:220773205 | ENSG00000116141.11 | ENST00000402574.1,ENST00000366917.4 |
| exon_skip_18087 | 1 | 220773139:220773205:220777408:220777479:220789280:220789337 | 220777408:220777479 | ENSG00000116141.11 | ENST00000402574.1,ENST00000366917.4 |
| exon_skip_18089 | 1 | 220809174:220809368:220823961:220824062:220825327:220825492 | 220823961:220824062 | ENSG00000116141.11 | ENST00000366918.4,ENST00000402574.1,ENST00000366917.4 |
| exon_skip_18090 | 1 | 220826442:220826694:220831131:220831176:220835153:220835800 | 220831131:220831176 | ENSG00000116141.11 | ENST00000366917.4 |
| 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 MARK1 |
| 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 |
| ENST00000366917 | 220777408 | 220777479 | Frame-shift |
| ENST00000366917 | 220823961 | 220824062 | Frame-shift |
| ENST00000366917 | 220773139 | 220773205 | In-frame |
| ENST00000366917 | 220831131 | 220831176 | 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 |
| ENST00000366917 | 220777408 | 220777479 | Frame-shift |
| ENST00000366917 | 220823961 | 220824062 | Frame-shift |
| ENST00000366917 | 220773139 | 220773205 | In-frame |
| ENST00000366917 | 220831131 | 220831176 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MARK1 |
| 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 |
| ENST00000366917 | 2963 | 795 | 220773139 | 220773205 | 625 | 690 | 119 | 141 |
| ENST00000366917 | 2963 | 795 | 220831131 | 220831176 | 2255 | 2299 | 663 | 677 |
| 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 |
| ENST00000366917 | 2963 | 795 | 220773139 | 220773205 | 625 | 690 | 119 | 141 |
| ENST00000366917 | 2963 | 795 | 220831131 | 220831176 | 2255 | 2299 | 663 | 677 |
| 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 |
| Q9P0L2 | 119 | 141 | 1 | 135 | Alternative sequence | ID=VSP_051702;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9P0L2 | 119 | 141 | 120 | 141 | Alternative sequence | ID=VSP_051703;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10819331;Dbxref=PMID:10819331 |
| Q9P0L2 | 119 | 141 | 122 | 127 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HAK |
| Q9P0L2 | 119 | 141 | 129 | 136 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HAK |
| Q9P0L2 | 119 | 141 | 1 | 795 | Chain | ID=PRO_0000086298;Note=Serine/threonine-protein kinase MARK1 |
| Q9P0L2 | 119 | 141 | 60 | 311 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q9P0L2 | 663 | 677 | 663 | 677 | Alternative sequence | ID=VSP_051704;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10819331,ECO:0000303|PubMed:14702039;Dbxref=PMID:10819331,PMID:14702039 |
| Q9P0L2 | 663 | 677 | 1 | 795 | Chain | ID=PRO_0000086298;Note=Serine/threonine-protein kinase MARK1 |
| Q9P0L2 | 663 | 677 | 666 | 666 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VHJ5 |
| 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 |
| Q9P0L2 | 119 | 141 | 1 | 135 | Alternative sequence | ID=VSP_051702;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9P0L2 | 119 | 141 | 120 | 141 | Alternative sequence | ID=VSP_051703;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10819331;Dbxref=PMID:10819331 |
| Q9P0L2 | 119 | 141 | 122 | 127 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HAK |
| Q9P0L2 | 119 | 141 | 129 | 136 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HAK |
| Q9P0L2 | 119 | 141 | 1 | 795 | Chain | ID=PRO_0000086298;Note=Serine/threonine-protein kinase MARK1 |
| Q9P0L2 | 119 | 141 | 60 | 311 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q9P0L2 | 663 | 677 | 663 | 677 | Alternative sequence | ID=VSP_051704;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10819331,ECO:0000303|PubMed:14702039;Dbxref=PMID:10819331,PMID:14702039 |
| Q9P0L2 | 663 | 677 | 1 | 795 | Chain | ID=PRO_0000086298;Note=Serine/threonine-protein kinase MARK1 |
| Q9P0L2 | 663 | 677 | 666 | 666 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VHJ5 |
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SNVs in the skipped exons for MARK1 |
| - 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-DD-A1EG-01 | exon_skip_18090 | 220831132 | 220831176 | 220831164 | 220831164 | Frame_Shift_Del | C | - | p.T674fs |
| COAD | TCGA-A6-5665-01 | exon_skip_18089 | 220823962 | 220824062 | 220824028 | 220824028 | Nonsense_Mutation | C | T | p.R513X |
| - 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 |
| HCC2998_LARGE_INTESTINE | 220773140 | 220773205 | 220773163 | 220773163 | Missense_Mutation | A | G | p.T128A |
| BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 220773140 | 220773205 | 220773189 | 220773189 | Missense_Mutation | G | T | p.M136I |
| GP2D_LARGE_INTESTINE | 220773140 | 220773205 | 220773194 | 220773194 | Missense_Mutation | A | G | p.Y138C |
| GP5D_LARGE_INTESTINE | 220773140 | 220773205 | 220773194 | 220773194 | Missense_Mutation | A | G | p.Y138C |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 220773140 | 220773205 | 220773197 | 220773197 | Missense_Mutation | C | T | p.A139V |
| KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 220777409 | 220777479 | 220777442 | 220777442 | Missense_Mutation | G | T | p.R153I |
| NCIH1930_LUNG | 220823962 | 220824062 | 220823980 | 220823980 | Missense_Mutation | G | T | p.G497C |
| NCIH23_LUNG | 220823962 | 220824062 | 220823980 | 220823980 | Missense_Mutation | G | T | p.G497C |
| NCIH1573_LUNG | 220823962 | 220824062 | 220823997 | 220823997 | Missense_Mutation | G | T | p.R502S |
| NCIH1155_LUNG | 220823962 | 220824062 | 220824007 | 220824007 | Missense_Mutation | G | A | p.V506I |
| K2_SKIN | 220831132 | 220831176 | 220831161 | 220831161 | Missense_Mutation | G | A | p.R673K |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 220831132 | 220831176 | 220831166 | 220831166 | Missense_Mutation | G | A | p.D675N |
| KM12_LARGE_INTESTINE | 220777409 | 220777479 | 220777438 | 220777438 | Nonsense_Mutation | G | T | p.G152* |
| HEC59_ENDOMETRIUM | 220823962 | 220824062 | 220824062 | 220824062 | Splice_Site | G | T | p.S524I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MARK1 |
| 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 MARK1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MARK1 |
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RelatedDrugs for MARK1 |
| 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 |
| Q9P0L2 | DB12010 | Fostamatinib | Serine/threonine-protein kinase MARK1 | small molecule | approved|investigational |
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RelatedDiseases for MARK1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MARK1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| MARK1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
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