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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 MUSK |
 Gene summary |
| Gene information | Gene symbol | MUSK | Gene ID | 4593 |
| Gene name | muscle associated receptor tyrosine kinase | |
| Synonyms | CMS9|FADS | |
| Cytomap | 9q31.3 | |
| Type of gene | protein-coding | |
| Description | muscle, skeletal receptor tyrosine-protein kinasemuscle, skeletal, receptor tyrosine kinasemuscle-specific kinase receptormuscle-specific tyrosine-protein kinase receptor | |
| Modification date | 20180523 | |
| UniProtAcc | O15146 | |
| Context | PubMed: MUSK [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 |
| MUSK | GO:0007528 | neuromuscular junction development | 25537362 |
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Exon skipping events across known transcript of Ensembl for MUSK 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 MUSK |
| 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 MUSK |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_498087 | 9 | 113538067:113538243:113538911:113538935:113547094:113547296 | 113538911:113538935 | ENSG00000030304.8 | ENST00000189978.5,ENST00000374448.4 |
| exon_skip_498088 | 9 | 113537626:113538243:113547094:113547296:113547806:113547998 | 113547094:113547296 | ENSG00000030304.8 | ENST00000416899.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MUSK |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_498087 | 9 | 113538067:113538243:113538911:113538935:113547094:113547296 | 113538911:113538935 | ENSG00000030304.8 | ENST00000189978.5,ENST00000374448.4 |
| exon_skip_498088 | 9 | 113537626:113538243:113547094:113547296:113547806:113547998 | 113547094:113547296 | ENSG00000030304.8 | ENST00000416899.2 |
| 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 MUSK |
| 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 |
| ENST00000374448 | 113538911 | 113538935 | 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 |
| ENST00000374448 | 113538911 | 113538935 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MUSK |
| 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 MUSK |
| - 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 |
| BLCA | TCGA-GU-A766-01 | exon_skip_498088 | 113547095 | 113547296 | 113547282 | 113547282 | Nonsense_Mutation | G | A | p.W516* |
| - 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 |
| NCIH358_LUNG | 113547095 | 113547296 | 113547104 | 113547104 | Missense_Mutation | C | A | p.P465Q |
| TCCSUP_URINARY_TRACT | 113547095 | 113547296 | 113547158 | 113547158 | Missense_Mutation | C | T | p.S483F |
| CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113547095 | 113547296 | 113547161 | 113547161 | Missense_Mutation | C | G | p.S484C |
| RVH421_SKIN | 113547095 | 113547296 | 113547282 | 113547282 | Nonsense_Mutation | G | A | p.W524* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MUSK |
| 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 MUSK |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MUSK |
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RelatedDrugs for MUSK |
| 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 |
| O15146 | DB12010 | Fostamatinib | Muscle, skeletal receptor tyrosine-protein kinase | small molecule | approved|investigational |
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RelatedDiseases for MUSK |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MUSK | C4225368 | MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | 5 | UNIPROT |
| MUSK | C0026896 | Myasthenia Gravis | 2 | CTD_human |
| MUSK | C1276035 | Pena-Shokeir syndrome type I | 1 | HPO;ORPHANET;UNIPROT |
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