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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 MYL9 |
 Gene summary |
| Gene information | Gene symbol | MYL9 | Gene ID | 10398 |
| Gene name | myosin light chain 9 | |
| Synonyms | LC20|MLC-2C|MLC2|MRLC1|MYRL2 | |
| Cytomap | 20q11.23 | |
| Type of gene | protein-coding | |
| Description | myosin regulatory light polypeptide 920 kDa myosin light chainmyosin RLCmyosin regulatory light chain 1myosin regulatory light chain 2, smooth muscle isoformmyosin regulatory light chain 9myosin regulatory light chain MRLC1myosin, light chain 9, re | |
| Modification date | 20180519 | |
| UniProtAcc | P24844 | |
| Context | PubMed: MYL9 [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 MYL9 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 MYL9 |
| 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 MYL9 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_351246 | 20 | 35169899:35169964:35173261:35173471:35177479:35178228 | 35173261:35173471 | ENSG00000101335.5 | ENST00000346786.2 |
| exon_skip_351404 | 20 | 35173371:35173471:35176434:35176596:35177479:35177629 | 35176434:35176596 | ENSG00000101335.5 | ENST00000279022.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MYL9 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_351246 | 20 | 35169899:35169964:35173261:35173471:35177479:35178228 | 35173261:35173471 | ENSG00000101335.5 | ENST00000346786.2 |
| exon_skip_351404 | 20 | 35173371:35173471:35176434:35176596:35177479:35177629 | 35176434:35176596 | ENSG00000101335.5 | ENST00000279022.2 |
| 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 MYL9 |
| 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 |
| ENST00000279022 | 35176434 | 35176596 | 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 |
| ENST00000279022 | 35176434 | 35176596 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MYL9 |
| 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 |
| ENST00000279022 | 1216 | 172 | 35176434 | 35176596 | 289 | 450 | 61 | 115 |
| 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 |
| ENST00000279022 | 1216 | 172 | 35176434 | 35176596 | 289 | 450 | 61 | 115 |
| 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 |
| P24844 | 61 | 115 | 62 | 115 | Alternative sequence | ID=VSP_042834;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:15489334 |
| P24844 | 61 | 115 | 2 | 172 | Chain | ID=PRO_0000198735;Note=Myosin regulatory light polypeptide 9 |
| P24844 | 61 | 115 | 29 | 64 | Domain | Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
| P24844 | 61 | 115 | 98 | 133 | Domain | Note=EF-hand 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
| P24844 | 61 | 115 | 81 | 81 | Sequence conflict | Note=I->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P24844 | 61 | 115 | 114 | 114 | Sequence conflict | Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| P24844 | 61 | 115 | 62 | 115 | Alternative sequence | ID=VSP_042834;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:15489334 |
| P24844 | 61 | 115 | 2 | 172 | Chain | ID=PRO_0000198735;Note=Myosin regulatory light polypeptide 9 |
| P24844 | 61 | 115 | 29 | 64 | Domain | Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
| P24844 | 61 | 115 | 98 | 133 | Domain | Note=EF-hand 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
| P24844 | 61 | 115 | 81 | 81 | Sequence conflict | Note=I->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P24844 | 61 | 115 | 114 | 114 | Sequence conflict | Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for MYL9 |
| - 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 |
| LUAD | TCGA-44-6778-01 | exon_skip_351404 | 35176435 | 35176596 | 35176463 | 35176463 | Frame_Shift_Del | G | - | p.E71fs |
| HNSC | TCGA-BB-4227-01 | exon_skip_351246 | 35173262 | 35173471 | 35173441 | 35173441 | Nonsense_Mutation | G | T | p.E52* |
| - 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 |
| SUM149PT_BREAST | 35173262 | 35173471 | 35173407 | 35173407 | Missense_Mutation | G | T | p.M40I |
| TE6_OESOPHAGUS | 35173262 | 35173471 | 35173423 | 35173423 | Missense_Mutation | G | A | p.D46N |
| A101D_SKIN | 35173262 | 35173471 | 35173433 | 35173433 | Missense_Mutation | T | C | p.I49T |
| HS294T_SKIN | 35173262 | 35173471 | 35173433 | 35173433 | Missense_Mutation | T | C | p.I49T |
| K2_SKIN | 35176435 | 35176596 | 35176453 | 35176453 | Missense_Mutation | A | T | p.E68V |
| HCC1428_BREAST | 35176435 | 35176596 | 35176464 | 35176464 | Missense_Mutation | G | A | p.G72S |
| RH36_SOFT_TISSUE | 35176435 | 35176596 | 35176483 | 35176483 | Missense_Mutation | C | T | p.P78L |
| HMY1_SKIN | 35176435 | 35176596 | 35176522 | 35176522 | Missense_Mutation | G | C | p.G91A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MYL9 |
| 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 MYL9 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYL9 |
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RelatedDrugs for MYL9 |
| 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 MYL9 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MYL9 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| MYL9 | C0042373 | Vascular Diseases | 1 | CTD_human |
| MYL9 | C1527311 | Brain Edema | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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