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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 MTUS1 |
 Gene summary |
| Gene information | Gene symbol | MTUS1 | Gene ID | 57509 |
| Gene name | microtubule associated scaffold protein 1 | |
| Synonyms | ATBP|ATIP|ATIP3|ICIS|MP44|MTSG1 | |
| Cytomap | 8p22 | |
| Type of gene | protein-coding | |
| Description | microtubule-associated tumor suppressor 1AT2 receptor-binding proteinAT2 receptor-interacting proteinAT2R binding proteinangiotensin-II type 2 receptor-interacting proteinerythroid differentiation-relatedmicrotubule associated tumor suppressor 1mit | |
| Modification date | 20180523 | |
| UniProtAcc | Q9ULD2 | |
| Context | PubMed: MTUS1 [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 MTUS1 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 MTUS1 |
| 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 MTUS1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_488384 | 8 | 17503484:17503648:17504490:17504588:17507354:17507471 | 17504490:17504588 | ENSG00000129422.9 | ENST00000400046.1,ENST00000520196.1,ENST00000519263.1,ENST00000297488.6,ENST00000544260.1,ENST00000518792.1,ENST00000381869.3,ENST00000262102.6,ENST00000381861.3,ENST00000517413.1 |
| exon_skip_488388 | 8 | 17504512:17504588:17507354:17507471:17510694:17510787 | 17507354:17507471 | ENSG00000129422.9 | ENST00000400046.1,ENST00000520196.1,ENST00000519263.1,ENST00000297488.6,ENST00000523471.1,ENST00000544260.1,ENST00000381869.3,ENST00000262102.6,ENST00000381861.3,ENST00000517413.1 |
| exon_skip_488392 | 8 | 17512072:17512175:17513371:17513574:17532694:17532761 | 17513371:17513574 | ENSG00000129422.9 | ENST00000400046.1,ENST00000520196.1,ENST00000519263.1,ENST00000297488.6,ENST00000544260.1,ENST00000521772.1,ENST00000381869.3,ENST00000262102.6,ENST00000518713.1,ENST00000381861.3,ENST00000517413.1 |
| exon_skip_488398 | 8 | 17513534:17513574:17521488:17521590:17532694:17532761 | 17521488:17521590 | ENSG00000129422.9 | ENST00000522757.1 |
| exon_skip_488399 | 8 | 17513534:17513574:17532694:17532761:17541836:17542051 | 17532694:17532761 | ENSG00000129422.9 | ENST00000520196.1,ENST00000519263.1,ENST00000297488.6,ENST00000524371.1,ENST00000544260.1,ENST00000517818.1,ENST00000381869.3,ENST00000262102.6,ENST00000524044.1,ENST00000518713.1,ENST00000381861.3 |
| exon_skip_488404 | 8 | 17532725:17532761:17541836:17542051:17554765:17555179 | 17541836:17542051 | ENSG00000129422.9 | ENST00000297488.6 |
| exon_skip_488406 | 8 | 17541983:17542051:17548813:17548873:17549477:17549726 | 17548813:17548873 | ENSG00000129422.9 | ENST00000518713.1 |
| exon_skip_488410 | 8 | 17541983:17542051:17570722:17570761:17573275:17573410 | 17570722:17570761 | ENSG00000129422.9 | ENST00000520196.1,ENST00000519263.1,ENST00000544260.1,ENST00000522149.1,ENST00000517721.1,ENST00000381869.3,ENST00000262102.6,ENST00000524044.1,ENST00000518138.1,ENST00000381861.3,ENST00000521882.1 |
| exon_skip_488416 | 8 | 17573275:17573410:17581180:17581342:17591711:17591756 | 17581180:17581342 | ENSG00000129422.9 | ENST00000518138.1 |
| exon_skip_488418 | 8 | 17573275:17573410:17581180:17581342:17601112:17601308 | 17581180:17581342 | ENSG00000129422.9 | ENST00000262102.6 |
| exon_skip_488421 | 8 | 17573275:17573410:17601112:17601308:17611225:17612520 | 17601112:17601308 | ENSG00000129422.9 | ENST00000519263.1,ENST00000381869.3 |
| exon_skip_488424 | 8 | 17581180:17581342:17581610:17581671:17601112:17601308 | 17581610:17581671 | ENSG00000129422.9 | ENST00000520196.1 |
| exon_skip_488426 | 8 | 17581180:17581342:17601112:17601308:17611225:17612520 | 17601112:17601308 | ENSG00000129422.9 | ENST00000523718.1,ENST00000262102.6 |
| exon_skip_488437 | 8 | 17613129:17613470:17615648:17615713:17627937:17628090 | 17615648:17615713 | ENSG00000129422.9 | ENST00000518891.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MTUS1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_488384 | 8 | 17503484:17503648:17504490:17504588:17507354:17507471 | 17504490:17504588 | ENSG00000129422.9 | ENST00000381869.3,ENST00000544260.1,ENST00000400046.1,ENST00000517413.1,ENST00000297488.6,ENST00000520196.1,ENST00000381861.3,ENST00000262102.6,ENST00000519263.1,ENST00000518792.1 |
| exon_skip_488388 | 8 | 17504512:17504588:17507354:17507471:17510694:17510787 | 17507354:17507471 | ENSG00000129422.9 | ENST00000381869.3,ENST00000544260.1,ENST00000400046.1,ENST00000517413.1,ENST00000297488.6,ENST00000520196.1,ENST00000381861.3,ENST00000262102.6,ENST00000519263.1,ENST00000523471.1 |
| exon_skip_488392 | 8 | 17512072:17512175:17513371:17513574:17532694:17532761 | 17513371:17513574 | ENSG00000129422.9 | ENST00000381869.3,ENST00000544260.1,ENST00000400046.1,ENST00000517413.1,ENST00000297488.6,ENST00000520196.1,ENST00000381861.3,ENST00000262102.6,ENST00000519263.1,ENST00000518713.1,ENST00000521772.1 |
| exon_skip_488398 | 8 | 17513534:17513574:17521488:17521590:17532694:17532761 | 17521488:17521590 | ENSG00000129422.9 | ENST00000522757.1 |
| exon_skip_488399 | 8 | 17513534:17513574:17532694:17532761:17541836:17542051 | 17532694:17532761 | ENSG00000129422.9 | ENST00000381869.3,ENST00000544260.1,ENST00000297488.6,ENST00000520196.1,ENST00000381861.3,ENST00000262102.6,ENST00000519263.1,ENST00000518713.1,ENST00000524371.1,ENST00000517818.1,ENST00000524044.1 |
| exon_skip_488404 | 8 | 17532725:17532761:17541836:17542051:17554765:17555179 | 17541836:17542051 | ENSG00000129422.9 | ENST00000297488.6 |
| exon_skip_488406 | 8 | 17541983:17542051:17548813:17548873:17549477:17549726 | 17548813:17548873 | ENSG00000129422.9 | ENST00000518713.1 |
| exon_skip_488410 | 8 | 17541983:17542051:17570722:17570761:17573275:17573410 | 17570722:17570761 | ENSG00000129422.9 | ENST00000381869.3,ENST00000544260.1,ENST00000520196.1,ENST00000381861.3,ENST00000262102.6,ENST00000519263.1,ENST00000524044.1,ENST00000522149.1,ENST00000521882.1,ENST00000518138.1,ENST00000517721.1 |
| exon_skip_488418 | 8 | 17573275:17573410:17581180:17581342:17601112:17601308 | 17581180:17581342 | ENSG00000129422.9 | ENST00000262102.6 |
| exon_skip_488421 | 8 | 17573275:17573410:17601112:17601308:17611225:17612520 | 17601112:17601308 | ENSG00000129422.9 | ENST00000381869.3,ENST00000519263.1 |
| exon_skip_488424 | 8 | 17581180:17581342:17581610:17581671:17601112:17601308 | 17581610:17581671 | ENSG00000129422.9 | ENST00000520196.1 |
| exon_skip_488426 | 8 | 17581180:17581342:17601112:17601308:17611225:17612520 | 17601112:17601308 | ENSG00000129422.9 | ENST00000262102.6,ENST00000523718.1 |
| exon_skip_488437 | 8 | 17613129:17613470:17615648:17615713:17627937:17628090 | 17615648:17615713 | ENSG00000129422.9 | ENST00000518891.1 |
| 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 MTUS1 |
| 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 |
| ENST00000262102 | 17504490 | 17504588 | Frame-shift |
| ENST00000262102 | 17513371 | 17513574 | Frame-shift |
| ENST00000262102 | 17532694 | 17532761 | Frame-shift |
| ENST00000262102 | 17601112 | 17601308 | Frame-shift |
| ENST00000262102 | 17507354 | 17507471 | In-frame |
| ENST00000262102 | 17570722 | 17570761 | In-frame |
| ENST00000262102 | 17581180 | 17581342 | 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 |
| ENST00000262102 | 17504490 | 17504588 | Frame-shift |
| ENST00000262102 | 17513371 | 17513574 | Frame-shift |
| ENST00000262102 | 17532694 | 17532761 | Frame-shift |
| ENST00000262102 | 17601112 | 17601308 | Frame-shift |
| ENST00000262102 | 17507354 | 17507471 | In-frame |
| ENST00000262102 | 17570722 | 17570761 | In-frame |
| ENST00000262102 | 17581180 | 17581342 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MTUS1 |
| 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 |
| ENST00000262102 | 6177 | 1270 | 17581180 | 17581342 | 2513 | 2674 | 762 | 816 |
| ENST00000262102 | 6177 | 1270 | 17570722 | 17570761 | 2810 | 2848 | 861 | 874 |
| ENST00000262102 | 6177 | 1270 | 17507354 | 17507471 | 3610 | 3726 | 1128 | 1167 |
| 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 |
| ENST00000262102 | 6177 | 1270 | 17581180 | 17581342 | 2513 | 2674 | 762 | 816 |
| ENST00000262102 | 6177 | 1270 | 17570722 | 17570761 | 2810 | 2848 | 861 | 874 |
| ENST00000262102 | 6177 | 1270 | 17507354 | 17507471 | 3610 | 3726 | 1128 | 1167 |
| 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 MTUS1 |
| - 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-A39Y-01 | exon_skip_488392 | 17513372 | 17513574 | 17513449 | 17513449 | Frame_Shift_Del | A | - | p.Y957fs |
| LUAD | TCGA-78-7536-01 | exon_skip_488392 | 17513372 | 17513574 | 17513510 | 17513510 | Frame_Shift_Del | T | - | p.E936fs |
| LUAD | TCGA-78-7536-01 | exon_skip_488392 | 17513372 | 17513574 | 17513510 | 17513510 | Frame_Shift_Del | T | - | p.E990fs |
| HNSC | TCGA-CV-A6K1-01 | exon_skip_488392 | 17513372 | 17513574 | 17513519 | 17513522 | Frame_Shift_Del | TGTT | - | p.QT932fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_488410 | 17570723 | 17570761 | 17570746 | 17570746 | Frame_Shift_Del | T | - | p.N813fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_488410 | 17570723 | 17570761 | 17570746 | 17570746 | Frame_Shift_Del | T | - | p.N813fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_488426 exon_skip_488421 | 17601113 | 17601308 | 17601205 | 17601205 | Frame_Shift_Del | G | - | p.P732fs |
| STAD | TCGA-BR-4292-01 | exon_skip_488392 | 17513372 | 17513574 | 17513478 | 17513479 | Frame_Shift_Ins | - | T | p.T1001fs |
| STAD | TCGA-BR-4292-01 | exon_skip_488392 | 17513372 | 17513574 | 17513479 | 17513480 | Frame_Shift_Ins | - | T | p.T1001fs |
| READ | TCGA-EI-6507-01 | exon_skip_488416 exon_skip_488418 | 17581181 | 17581342 | 17581321 | 17581322 | Frame_Shift_Ins | - | T | p.T770fs |
| UCEC | TCGA-AP-A0LL-01 | exon_skip_488388 | 17507355 | 17507471 | 17507462 | 17507462 | Nonsense_Mutation | G | A | p.Q1132* |
| KIRP | TCGA-DW-7842-01 | exon_skip_488392 | 17513372 | 17513574 | 17513393 | 17513393 | Nonsense_Mutation | G | T | p.Y1029X |
| LUAD | TCGA-17-Z042-01 | exon_skip_488404 | 17541837 | 17542051 | 17542025 | 17542025 | Nonsense_Mutation | G | A | p.R830* |
| STAD | TCGA-BR-4368-01 | exon_skip_488404 | 17541837 | 17542051 | 17542025 | 17542025 | Nonsense_Mutation | G | A | p.R884* |
| STAD | TCGA-BR-6706-01 | exon_skip_488384 | 17504491 | 17504588 | 17504590 | 17504590 | Splice_Site | T | G | p.V1168_splice |
| BLCA | TCGA-CU-A3YL-01 | exon_skip_488388 | 17507355 | 17507471 | 17507472 | 17507472 | Splice_Site | C | T | p.K1129_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EI-6507-01 |
| Cancer type: READ | |
| ESID: exon_skip_488418 | |
| Skipped exon start: 17581181 | |
| Skipped exon end: 17581342 | |
| Mutation start: 17581321 | |
| Mutation end: 17581322 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.T770fs | |
exon_skip_340412_READ_TCGA-EI-6507-01.png | |
exon_skip_340419_READ_TCGA-EI-6507-01.png | |
exon_skip_3815_READ_TCGA-EI-6507-01.png | |
exon_skip_439048_READ_TCGA-EI-6507-01.png | |
exon_skip_488418_READ_TCGA-EI-6507-01.png | |
exon_skip_499249_READ_TCGA-EI-6507-01.png | |
exon_skip_499251_READ_TCGA-EI-6507-01.png | |
exon_skip_503611_READ_TCGA-EI-6507-01.png | |
exon_skip_68468_READ_TCGA-EI-6507-01.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 |
| JVM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17513372 | 17513574 | 17513519 | 17513522 | Frame_Shift_Del | TGTT | - | p.QT986fs |
| SNU1040_LARGE_INTESTINE | 17541837 | 17542051 | 17541971 | 17541971 | Frame_Shift_Del | T | - | p.T902fs |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17601113 | 17601308 | 17601210 | 17601210 | Frame_Shift_Del | C | - | p.G730fs |
| OAW42_OVARY | 17504491 | 17504588 | 17504498 | 17504498 | Missense_Mutation | T | C | p.I1198V |
| TGW_AUTONOMIC_GANGLIA | 17504491 | 17504588 | 17504569 | 17504569 | Missense_Mutation | A | G | p.L1174S |
| M14_SKIN | 17507355 | 17507471 | 17507449 | 17507449 | Missense_Mutation | A | C | p.L1136R |
| MDAMB435S_SKIN | 17507355 | 17507471 | 17507449 | 17507449 | Missense_Mutation | A | C | p.L1136R |
| HCC1419_BREAST | 17513372 | 17513574 | 17513401 | 17513401 | Missense_Mutation | C | T | p.E1027K |
| LS411N_LARGE_INTESTINE | 17513372 | 17513574 | 17513403 | 17513403 | Missense_Mutation | G | A | p.A1026V |
| HCC1438_LUNG | 17513372 | 17513574 | 17513424 | 17513424 | Missense_Mutation | C | T | p.R1019Q |
| L33_PANCREAS | 17513372 | 17513574 | 17513424 | 17513424 | Missense_Mutation | C | T | p.R1019Q |
| NCIH446_LUNG | 17513372 | 17513574 | 17513429 | 17513429 | Missense_Mutation | C | A | p.K1017N |
| SW1417_LARGE_INTESTINE | 17513372 | 17513574 | 17513497 | 17513497 | Missense_Mutation | G | T | p.Q995K |
| NCIH1436_LUNG | 17532695 | 17532761 | 17532718 | 17532718 | Missense_Mutation | A | T | p.L961H |
| SW1417_LARGE_INTESTINE | 17532695 | 17532761 | 17532758 | 17532758 | Missense_Mutation | C | T | p.E948K |
| MDAPCA2B_PROSTATE | 17541837 | 17542051 | 17541847 | 17541847 | Missense_Mutation | A | G | p.L943P |
| SNU81_LARGE_INTESTINE | 17541837 | 17542051 | 17541912 | 17541912 | Missense_Mutation | C | G | p.Q921H |
| CJM_SKIN | 17541837 | 17542051 | 17541912 | 17541912 | Missense_Mutation | C | G | p.Q921H |
| LU135_LUNG | 17541837 | 17542051 | 17541958 | 17541958 | Missense_Mutation | G | A | p.T906M |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 17570723 | 17570761 | 17570729 | 17570729 | Missense_Mutation | T | A | p.N873Y |
| SNU1040_LARGE_INTESTINE | 17581181 | 17581342 | 17581204 | 17581204 | Missense_Mutation | T | C | p.E809G |
| COGAR359_SOFT_TISSUE | 17581181 | 17581342 | 17581312 | 17581312 | Missense_Mutation | G | A | p.S773L |
| PECAPJ15_UPPER_AERODIGESTIVE_TRACT | 17601113 | 17601308 | 17601132 | 17601132 | Missense_Mutation | G | C | p.I756M |
| MRKNU1_BREAST | 17601113 | 17601308 | 17601199 | 17601199 | Missense_Mutation | G | A | p.S734F |
| SW1573_LUNG | 17601113 | 17601308 | 17601199 | 17601199 | Missense_Mutation | G | A | p.S734F |
| SNU478_BILIARY_TRACT | 17601113 | 17601308 | 17601205 | 17601205 | Missense_Mutation | G | A | p.P732L |
| SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17601113 | 17601308 | 17601267 | 17601267 | Missense_Mutation | T | C | p.I711M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MTUS1 |
| 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 |
| exon_skip_488437 | 8 | 17613129:17613470:17615648:17615713:17627937:17628090 | 17615648:17615713 | ENST00000518891.1 | LUSC | rs11786236 | chr8:17615649 | C/T | 1.65e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MTUS1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MTUS1 |
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RelatedDrugs for MTUS1 |
| 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 |
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RelatedDiseases for MTUS1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MTUS1 | C2239176 | Liver carcinoma | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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