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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 MYOT |
 Gene summary |
| Gene information | Gene symbol | MYOT | Gene ID | 9499 |
| Gene name | myotilin | |
| Synonyms | LGMD1|LGMD1A|MFM3|TTID|TTOD | |
| Cytomap | 5q31.2 | |
| Type of gene | protein-coding | |
| Description | myotilin57 kDa cytoskeletal proteinmyofibrillar titin-like Ig domains proteintitin immunoglobulin domain protein (myotilin) | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UBF9 | |
| Context | PubMed: MYOT [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 MYOT 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 MYOT |
| 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 MYOT |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_437734 | 5 | 137206129:137206214:137206565:137206696:137211517:137211692 | 137206565:137206696 | ENSG00000120729.5 | ENST00000515645.1 |
| exon_skip_437735 | 5 | 137206129:137206214:137211517:137211692:137213208:137213310 | 137211517:137211692 | ENSG00000120729.5 | ENST00000509812.1,ENST00000421631.2 |
| exon_skip_437736 | 5 | 137213208:137213310:137216504:137216554:137217661:137217794 | 137216504:137216554 | ENSG00000120729.5 | ENST00000239926.4,ENST00000515645.1,ENST00000421631.2 |
| exon_skip_437738 | 5 | 137216504:137216554:137217661:137217794:137219072:137219273 | 137217661:137217794 | ENSG00000120729.5 | ENST00000239926.4,ENST00000515645.1,ENST00000503748.1,ENST00000421631.2 |
| exon_skip_437740 | 5 | 137216504:137216554:137219072:137219280:137221736:137221793 | 137219072:137219280 | ENSG00000120729.5 | ENST00000511254.1 |
| exon_skip_437741 | 5 | 137219072:137219280:137221736:137221902:137222552:137222686 | 137221736:137221902 | ENSG00000120729.5 | ENST00000239926.4,ENST00000515645.1,ENST00000421631.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MYOT |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_437734 | 5 | 137206129:137206214:137206565:137206696:137211517:137211692 | 137206565:137206696 | ENSG00000120729.5 | ENST00000515645.1 |
| exon_skip_437735 | 5 | 137206129:137206214:137211517:137211692:137213208:137213310 | 137211517:137211692 | ENSG00000120729.5 | ENST00000421631.2,ENST00000509812.1 |
| exon_skip_437736 | 5 | 137213208:137213310:137216504:137216554:137217661:137217794 | 137216504:137216554 | ENSG00000120729.5 | ENST00000239926.4,ENST00000421631.2,ENST00000515645.1 |
| exon_skip_437738 | 5 | 137216504:137216554:137217661:137217794:137219072:137219273 | 137217661:137217794 | ENSG00000120729.5 | ENST00000239926.4,ENST00000421631.2,ENST00000515645.1,ENST00000503748.1 |
| exon_skip_437740 | 5 | 137216504:137216554:137219072:137219280:137221736:137221793 | 137219072:137219280 | ENSG00000120729.5 | ENST00000511254.1 |
| exon_skip_437741 | 5 | 137219072:137219280:137221736:137221902:137222552:137222686 | 137221736:137221902 | ENSG00000120729.5 | ENST00000239926.4,ENST00000421631.2,ENST00000515645.1 |
| 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 MYOT |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for MYOT |
| 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 MYOT |
| - 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_437734 | 137206566 | 137206696 | 137206676 | 137206676 | Frame_Shift_Del | C | - | p.I112fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_437741 | 137221737 | 137221902 | 137221784 | 137221784 | Frame_Shift_Del | A | - | p.K359fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_437741 | 137221737 | 137221902 | 137221784 | 137221784 | Frame_Shift_Del | A | - | p.K359fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_437741 | 137221737 | 137221902 | 137221859 | 137221859 | Frame_Shift_Del | A | - | p.K383fs |
| BRCA | TCGA-D8-A142-01 | exon_skip_437735 | 137211518 | 137211692 | 137211662 | 137211662 | Nonsense_Mutation | C | A | p.C167* |
| ESCA | TCGA-XP-A8T6-01 | exon_skip_437740 | 137219073 | 137219280 | 137219244 | 137219244 | Nonsense_Mutation | G | T | p.G330X |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_437736 | 137216505 | 137216554 | 137216556 | 137216557 | Splice_Site | - | A | e4+2 |
| - 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 |
| RKO_LARGE_INTESTINE | 137206566 | 137206696 | 137206585 | 137206585 | Missense_Mutation | G | A | p.G82D |
| NCIH2135_LUNG | 137206566 | 137206696 | 137206589 | 137206589 | Missense_Mutation | A | C | p.Q83H |
| KNS60_CENTRAL_NERVOUS_SYSTEM | 137206566 | 137206696 | 137206611 | 137206611 | Missense_Mutation | C | A | p.Q91K |
| SNU1040_LARGE_INTESTINE | 137206566 | 137206696 | 137206678 | 137206678 | Missense_Mutation | C | A | p.P113H |
| MFE319_ENDOMETRIUM | 137211518 | 137211692 | 137211577 | 137211577 | Missense_Mutation | C | T | p.A139V |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 137211518 | 137211692 | 137211588 | 137211588 | Missense_Mutation | C | T | p.P143S |
| KM12_LARGE_INTESTINE | 137216505 | 137216554 | 137216521 | 137216521 | Missense_Mutation | A | G | p.H217R |
| KM12_LARGE_INTESTINE | 137216505 | 137216554 | 137216524 | 137216524 | Missense_Mutation | C | A | p.A218E |
| EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 137217662 | 137217794 | 137217670 | 137217670 | Missense_Mutation | C | T | p.S231L |
| FADU_UPPER_AERODIGESTIVE_TRACT | 137217662 | 137217794 | 137217736 | 137217736 | Missense_Mutation | T | C | p.I253T |
| OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 137217662 | 137217794 | 137217784 | 137217784 | Missense_Mutation | T | C | p.M269T |
| ESS1_ENDOMETRIUM | 137219073 | 137219280 | 137219115 | 137219115 | Missense_Mutation | G | A | p.G287R |
| SW756_CERVIX | 137221737 | 137221902 | 137221780 | 137221780 | Missense_Mutation | G | C | p.Q356H |
| JHUEM7_ENDOMETRIUM | 137221737 | 137221902 | 137221789 | 137221789 | Missense_Mutation | A | C | p.K359N |
| KMRC1_KIDNEY | 137216505 | 137216554 | 137216504 | 137216505 | Splice_Site | GC | AA | p.Q212K |
| NB12_AUTONOMIC_GANGLIA | 137217662 | 137217794 | 137217658 | 137217663 | Splice_Site | GTAGAA | - | p.S229del |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MYOT |
| 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 MYOT |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYOT |
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RelatedDrugs for MYOT |
| 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 MYOT |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MYOT | C1834659 | Muscular dystrophy, limb-girdle, type 1A | 3 | CTD_human;ORPHANET;UNIPROT |
| MYOT | C0031117 | Peripheral Neuropathy | 1 | CTD_human;HPO |
| MYOT | C0151786 | Muscle Weakness | 1 | CTD_human |
| MYOT | C0878544 | Cardiomyopathies | 1 | CTD_human;HPO |
| MYOT | C1836607 | MYOTILINOPATHY | 1 | CTD_human |
| MYOT | C1866785 | Spheroid body myopathy | 1 | CTD_human;ORPHANET;UNIPROT |
| MYOT | C3714934 | MYOPATHY, MYOFIBRILLAR, 3 | 1 | ORPHANET;UNIPROT |
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