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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 MAST1 |
 Gene summary |
| Gene information | Gene symbol | MAST1 | Gene ID | 22983 |
| Gene name | microtubule associated serine/threonine kinase 1 | |
| Synonyms | SAST | |
| Cytomap | 19p13.13 | |
| Type of gene | protein-coding | |
| Description | microtubule-associated serine/threonine-protein kinase 1syntrophin associated serine/threonine kinasesyntrophin-associated serine/threonine-protein kinase | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y2H9 | |
| Context | PubMed: MAST1 [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 MAST1 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 MAST1 |
| 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 MAST1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_302674 | 19 | 12949347:12949469:12951259:12951348:12951804:12951880 | 12951259:12951348 | ENSG00000105613.5 | ENST00000251472.4,ENST00000590883.1 |
| exon_skip_302676 | 19 | 12951808:12951880:12954342:12954421:12958103:12958264 | 12954342:12954421 | ENSG00000105613.5 | ENST00000591495.1,ENST00000251472.4,ENST00000588379.1 |
| exon_skip_302681 | 19 | 12975859:12975992:12976129:12976295:12976530:12976632 | 12976129:12976295 | ENSG00000105613.5 | ENST00000251472.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MAST1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_302674 | 19 | 12949347:12949469:12951259:12951348:12951804:12951880 | 12951259:12951348 | ENSG00000105613.5 | ENST00000590883.1,ENST00000251472.4 |
| exon_skip_302676 | 19 | 12951808:12951880:12954342:12954421:12958103:12958264 | 12954342:12954421 | ENSG00000105613.5 | ENST00000591495.1,ENST00000251472.4,ENST00000588379.1 |
| exon_skip_302681 | 19 | 12975859:12975992:12976129:12976295:12976530:12976632 | 12976129:12976295 | ENSG00000105613.5 | ENST00000251472.4 |
| 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 MAST1 |
| 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 |
| ENST00000251472 | 12951259 | 12951348 | Frame-shift |
| ENST00000251472 | 12954342 | 12954421 | Frame-shift |
| ENST00000251472 | 12976129 | 12976295 | Frame-shift |
| 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 |
| ENST00000251472 | 12951259 | 12951348 | Frame-shift |
| ENST00000251472 | 12954342 | 12954421 | Frame-shift |
| ENST00000251472 | 12976129 | 12976295 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for MAST1 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for MAST1 |
| - 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 |
| THYM | TCGA-XU-AAY1-01 | exon_skip_302681 | 12976130 | 12976295 | 12976160 | 12976160 | Nonsense_Mutation | G | T | p.E557X |
| - 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 |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12976130 | 12976295 | 12976210 | 12976210 | Frame_Shift_Del | G | - | p.M573fs |
| ECC10_STOMACH | 12951260 | 12951348 | 12951298 | 12951298 | Missense_Mutation | G | A | p.S41N |
| SNU16_STOMACH | 12976130 | 12976295 | 12976137 | 12976137 | Missense_Mutation | G | T | p.G549V |
| SNU1040_LARGE_INTESTINE | 12976130 | 12976295 | 12976172 | 12976172 | Missense_Mutation | C | T | p.R561C |
| GP5D_LARGE_INTESTINE | 12976130 | 12976295 | 12976179 | 12976179 | Missense_Mutation | G | C | p.G563A |
| BICR10_UPPER_AERODIGESTIVE_TRACT | 12976130 | 12976295 | 12976290 | 12976290 | Missense_Mutation | T | C | p.I600T |
| SNU1040_LARGE_INTESTINE | 12976130 | 12976295 | 12976290 | 12976290 | Missense_Mutation | T | C | p.I600T |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12976130 | 12976295 | 12976183 | 12976183 | Nonsense_Mutation | C | A | p.Y564* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAST1 |
| 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 MAST1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAST1 |
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RelatedDrugs for MAST1 |
| 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 |
| Q9Y2H9 | DB12010 | Fostamatinib | Microtubule-associated serine/threonine-protein kinase 1 | small molecule | approved|investigational |
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RelatedDiseases for MAST1 |
| 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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