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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for MAST2 |
 Gene summary |
| Gene information | Gene symbol | MAST2 | Gene ID | 23139 |
| Gene name | microtubule associated serine/threonine kinase 2 | |
| Synonyms | MAST205|MTSSK | |
| Cytomap | 1p34.1 | |
| Type of gene | protein-coding | |
| Description | microtubule-associated serine/threonine-protein kinase 2microtubule associated testis specific serine/threonine protein kinase | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for MAST2 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000086015
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000372009.3 | MAST2-203:protein_coding:MAST2 | 2.297158e+02 | -1.149250e+00 | 2.802099e-09 | 1.036553e-07 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MAST2 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_101385 | chr1 | 45882367:45882395:45959386:45959477:45997724:45997799 | 45959386:45959477 |
| exon_skip_105484 | chr1 | 46023772:46023980:46025677:46025815:46027731:46027863 | 46025677:46025815 |
| exon_skip_123691 | chr1 | 45997724:45997799:46002805:46002883:46006241:46006395 | 46002805:46002883 |
| exon_skip_160608 | chr1 | 46027731:46027863:46028768:46028933:46029466:46029567 | 46028768:46028933 |
| exon_skip_168131 | chr1 | 46029831:46029953:46030129:46030238:46030607:46030759 | 46030129:46030238 |
| exon_skip_197703 | chr1 | 46008296:46008371:46010730:46010939:46019596:46019697 | 46010730:46010939 |
| exon_skip_295037 | chr1 | 45829439:45829581:45882364:45882395:45959386:45959477 | 45882364:45882395 |
| exon_skip_49957 | chr1 | 46008296:46008371:46010730:46010939:46019596:46019692 | 46010730:46010939 |
| exon_skip_8414 | chr1 | 45882364:45882395:45959386:45959477:45997724:45997799 | 45959386:45959477 |
| exon_skip_89306 | chr1 | 46010730:46010939:46019596:46019697:46021950:46022082 | 46019596:46019697 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_79246 | Mayo_TC | 3.821951e-01 | 4.901515e-01 | -1.079564e-01 | 8.325270e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for MAST2 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000361297 | 45882364 | 45882395 | Frame-shift |
| ENST00000361297 | 45959386 | 45959477 | Frame-shift |
| ENST00000361297 | 46028768 | 46028933 | Frame-shift |
| ENST00000361297 | 46010730 | 46010939 | In-frame |
| ENST00000361297 | 46019596 | 46019697 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000361297 | 46019596 | 46019697 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000361297 | 45959386 | 45959477 | Frame-shift |
| ENST00000361297 | 46002805 | 46002883 | Frame-shift |
| ENST00000361297 | 46025677 | 46025815 | Frame-shift |
| ENST00000361297 | 46028768 | 46028933 | Frame-shift |
| ENST00000361297 | 46030129 | 46030238 | Frame-shift |
| ENST00000361297 | 46010730 | 46010939 | In-frame |
| ENST00000361297 | 46019596 | 46019697 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MAST2 |
p-ENSG00000086015_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000361297 | 5755 | 1798 | 46010730 | 46010939 | 1263 | 1471 | 326 | 396 |
| ENST00000361297 | 5755 | 1798 | 46019596 | 46019697 | 1473 | 1573 | 396 | 430 |
| Loci of skipped exons in MSBB 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 |
| ENST00000361297 | 5755 | 1798 | 46019596 | 46019697 | 1473 | 1573 | 396 | 430 |
| Loci of skipped exons in Mayo 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 |
| ENST00000361297 | 5755 | 1798 | 46010730 | 46010939 | 1263 | 1471 | 326 | 396 |
| ENST00000361297 | 5755 | 1798 | 46019596 | 46019697 | 1473 | 1573 | 396 | 430 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q6P0Q8 | 326 | 396 | 327 | 396 | Alternative sequence | ID=VSP_051698;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q6P0Q8 | 326 | 396 | 1 | 1798 | Chain | ID=PRO_0000086312;Note=Microtubule-associated serine/threonine-protein kinase 2 |
| Q6P0Q8 | 326 | 396 | 388 | 388 | Natural variant | ID=VAR_040773;Note=D->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12117771,ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs11211247,PMID:12117771,PMID:17344846 |
| Q6P0Q8 | 396 | 430 | 327 | 396 | Alternative sequence | ID=VSP_051698;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q6P0Q8 | 396 | 430 | 1 | 1798 | Chain | ID=PRO_0000086312;Note=Microtubule-associated serine/threonine-protein kinase 2 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Q6P0Q8 | 396 | 430 | 327 | 396 | Alternative sequence | ID=VSP_051698;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q6P0Q8 | 396 | 430 | 1 | 1798 | Chain | ID=PRO_0000086312;Note=Microtubule-associated serine/threonine-protein kinase 2 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| Q6P0Q8 | 326 | 396 | 327 | 396 | Alternative sequence | ID=VSP_051698;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q6P0Q8 | 326 | 396 | 1 | 1798 | Chain | ID=PRO_0000086312;Note=Microtubule-associated serine/threonine-protein kinase 2 |
| Q6P0Q8 | 326 | 396 | 388 | 388 | Natural variant | ID=VAR_040773;Note=D->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12117771,ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs11211247,PMID:12117771,PMID:17344846 |
| Q6P0Q8 | 396 | 430 | 327 | 396 | Alternative sequence | ID=VSP_051698;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q6P0Q8 | 396 | 430 | 1 | 1798 | Chain | ID=PRO_0000086312;Note=Microtubule-associated serine/threonine-protein kinase 2 |
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3'-UTR located exon skipping events that lost miRNA binding sites in MAST2 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for MAST2 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for MAST2 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAST2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for MAST2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for MAST2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MAST2 |
| 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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