|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for MYH11 |
 Gene summary |
| Gene information | Gene symbol | MYH11 | Gene ID | 4629 |
| Gene name | myosin heavy chain 11 | |
| Synonyms | AAT4|FAA4|SMHC|SMMHC | |
| Cytomap | 16p13.11 | |
| Type of gene | protein-coding | |
| Description | myosin-11myosin heavy chain, smooth muscle isoformmyosin, heavy chain 11, smooth musclemyosin, heavy polypeptide 11, smooth muscle | |
| Modification date | 20180519 | |
| UniProtAcc | P35749 | |
| Context | PubMed: MYH11 [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 |
Top |
Exon skipping events across known transcript of Ensembl for MYH11 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. |
 |
Top |
Gene isoform structures and expression levels for MYH11 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for MYH11 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_142268 | 16 | 15797847:15797980:15802659:15802698:15808765:15808824 | 15802659:15802698 | ENSG00000133392.12 | ENST00000576790.2,ENST00000452625.2 |
| exon_skip_142319 | 16 | 15820704:15820911:15826420:15826565:15829222:15829280 | 15826420:15826565 | ENSG00000133392.12 | ENST00000576790.2,ENST00000452625.2,ENST00000300036.5,ENST00000396324.3 |
| exon_skip_142320 | 16 | 15826420:15826565:15829222:15829435:15831305:15831477 | 15829222:15829435 | ENSG00000133392.12 | ENST00000576790.2,ENST00000452625.2,ENST00000300036.5,ENST00000396324.3 |
| exon_skip_142323 | 16 | 15831305:15831477:15832421:15832545:15833907:15834045 | 15832421:15832545 | ENSG00000133392.12 | ENST00000576790.2,ENST00000452625.2,ENST00000300036.5,ENST00000396324.3 |
| exon_skip_142326 | 16 | 15832421:15832545:15833907:15834045:15835319:15835499 | 15833907:15834045 | ENSG00000133392.12 | ENST00000576790.2,ENST00000452625.2,ENST00000300036.5,ENST00000396324.3 |
| exon_skip_142329 | 16 | 15835616:15835748:15838985:15839094:15841426:15841587 | 15838985:15839094 | ENSG00000133392.12 | ENST00000576790.2,ENST00000452625.2,ENST00000300036.5,ENST00000396324.3 |
| exon_skip_142332 | 16 | 15843994:15844188:15847250:15847365:15850197:15850371 | 15847250:15847365 | ENSG00000133392.12 | ENST00000570785.1,ENST00000576790.2,ENST00000452625.2,ENST00000300036.5,ENST00000396324.3 |
| exon_skip_142333 | 16 | 15847250:15847365:15850197:15850371:15851683:15851770 | 15850197:15850371 | ENSG00000133392.12 | ENST00000570785.1,ENST00000576790.2,ENST00000452625.2,ENST00000300036.5,ENST00000396324.3 |
| exon_skip_142335 | 16 | 15850197:15850371:15851683:15851857:15853432:15853585 | 15851683:15851857 | ENSG00000133392.12 | ENST00000570785.1,ENST00000576790.2,ENST00000452625.2,ENST00000300036.5,ENST00000396324.3 |
| exon_skip_142338 | 16 | 15851683:15851857:15853432:15853585:15854396:15854515 | 15853432:15853585 | ENSG00000133392.12 | ENST00000570785.1,ENST00000576790.2,ENST00000452625.2,ENST00000300036.5,ENST00000396324.3 |
| exon_skip_142339 | 16 | 15854396:15854515:15857652:15857748:15865425:15865569 | 15857652:15857748 | ENSG00000133392.12 | ENST00000570785.1,ENST00000576790.2,ENST00000452625.2,ENST00000300036.5,ENST00000396324.3 |
| exon_skip_142341 | 16 | 15857652:15857748:15865425:15865569:15869934:15870033 | 15865425:15865569 | ENSG00000133392.12 | ENST00000570785.1,ENST00000576790.2,ENST00000452625.2,ENST00000300036.5,ENST00000396324.3 |
| exon_skip_142342 | 16 | 15872636:15872700:15876241:15876334:15880486:15880589 | 15876241:15876334 | ENSG00000133392.12 | ENST00000576790.2,ENST00000300036.5 |
| exon_skip_142344 | 16 | 15876241:15876334:15878554:15878575:15880486:15880589 | 15878554:15878575 | ENSG00000133392.12 | ENST00000452625.2,ENST00000396324.3 |
| exon_skip_142348 | 16 | 15892516:15892544:15917111:15917268:15931764:15932126 | 15917111:15917268 | ENSG00000133392.12 | ENST00000576790.2,ENST00000452625.2,ENST00000571505.1,ENST00000300036.5,ENST00000396324.3 |
| exon_skip_142349 | 16 | 15917111:15917268:15931764:15932126:15950797:15950868 | 15931764:15932126 | ENSG00000133392.12 | ENST00000576790.2,ENST00000452625.2,ENST00000571505.1,ENST00000300036.5 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for MYH11 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_142268 | 16 | 15797847:15797980:15802659:15802698:15808765:15808824 | 15802659:15802698 | ENSG00000133392.12 | ENST00000452625.2,ENST00000576790.2 |
| exon_skip_142319 | 16 | 15820704:15820911:15826420:15826565:15829222:15829280 | 15826420:15826565 | ENSG00000133392.12 | ENST00000396324.3,ENST00000452625.2,ENST00000576790.2,ENST00000300036.5 |
| exon_skip_142320 | 16 | 15826420:15826565:15829222:15829435:15831305:15831477 | 15829222:15829435 | ENSG00000133392.12 | ENST00000396324.3,ENST00000452625.2,ENST00000576790.2,ENST00000300036.5 |
| exon_skip_142323 | 16 | 15831305:15831477:15832421:15832545:15833907:15834045 | 15832421:15832545 | ENSG00000133392.12 | ENST00000396324.3,ENST00000452625.2,ENST00000576790.2,ENST00000300036.5 |
| exon_skip_142326 | 16 | 15832421:15832545:15833907:15834045:15835319:15835499 | 15833907:15834045 | ENSG00000133392.12 | ENST00000396324.3,ENST00000452625.2,ENST00000576790.2,ENST00000300036.5 |
| exon_skip_142329 | 16 | 15835616:15835748:15838985:15839094:15841426:15841587 | 15838985:15839094 | ENSG00000133392.12 | ENST00000396324.3,ENST00000452625.2,ENST00000576790.2,ENST00000300036.5 |
| exon_skip_142332 | 16 | 15843994:15844188:15847250:15847365:15850197:15850371 | 15847250:15847365 | ENSG00000133392.12 | ENST00000396324.3,ENST00000452625.2,ENST00000576790.2,ENST00000300036.5,ENST00000570785.1 |
| exon_skip_142333 | 16 | 15847250:15847365:15850197:15850371:15851683:15851770 | 15850197:15850371 | ENSG00000133392.12 | ENST00000396324.3,ENST00000452625.2,ENST00000576790.2,ENST00000300036.5,ENST00000570785.1 |
| exon_skip_142335 | 16 | 15850197:15850371:15851683:15851857:15853432:15853585 | 15851683:15851857 | ENSG00000133392.12 | ENST00000396324.3,ENST00000452625.2,ENST00000576790.2,ENST00000300036.5,ENST00000570785.1 |
| exon_skip_142338 | 16 | 15851683:15851857:15853432:15853585:15854396:15854515 | 15853432:15853585 | ENSG00000133392.12 | ENST00000396324.3,ENST00000452625.2,ENST00000576790.2,ENST00000300036.5,ENST00000570785.1 |
| exon_skip_142339 | 16 | 15854396:15854515:15857652:15857748:15865425:15865569 | 15857652:15857748 | ENSG00000133392.12 | ENST00000396324.3,ENST00000452625.2,ENST00000576790.2,ENST00000300036.5,ENST00000570785.1 |
| exon_skip_142341 | 16 | 15857652:15857748:15865425:15865569:15869934:15870033 | 15865425:15865569 | ENSG00000133392.12 | ENST00000396324.3,ENST00000452625.2,ENST00000576790.2,ENST00000300036.5,ENST00000570785.1 |
| exon_skip_142342 | 16 | 15872636:15872700:15876241:15876334:15880486:15880589 | 15876241:15876334 | ENSG00000133392.12 | ENST00000576790.2,ENST00000300036.5 |
| exon_skip_142344 | 16 | 15876241:15876334:15878554:15878575:15880486:15880589 | 15878554:15878575 | ENSG00000133392.12 | ENST00000396324.3,ENST00000452625.2 |
| exon_skip_142348 | 16 | 15892516:15892544:15917111:15917268:15931764:15932126 | 15917111:15917268 | ENSG00000133392.12 | ENST00000396324.3,ENST00000452625.2,ENST00000576790.2,ENST00000300036.5,ENST00000571505.1 |
| exon_skip_142349 | 16 | 15917111:15917268:15931764:15932126:15950797:15950868 | 15931764:15932126 | ENSG00000133392.12 | ENST00000452625.2,ENST00000576790.2,ENST00000300036.5,ENST00000571505.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for MYH11 |
| 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 |
| ENST00000300036 | 15931764 | 15932126 | 3UTR-3CDS |
| ENST00000300036 | 15826420 | 15826565 | Frame-shift |
| ENST00000300036 | 15832421 | 15832545 | Frame-shift |
| ENST00000300036 | 15838985 | 15839094 | Frame-shift |
| ENST00000300036 | 15847250 | 15847365 | Frame-shift |
| ENST00000300036 | 15917111 | 15917268 | Frame-shift |
| ENST00000300036 | 15829222 | 15829435 | In-frame |
| ENST00000300036 | 15833907 | 15834045 | In-frame |
| ENST00000300036 | 15850197 | 15850371 | In-frame |
| ENST00000300036 | 15851683 | 15851857 | In-frame |
| ENST00000300036 | 15853432 | 15853585 | In-frame |
| ENST00000300036 | 15857652 | 15857748 | In-frame |
| ENST00000300036 | 15865425 | 15865569 | In-frame |
| ENST00000300036 | 15876241 | 15876334 | 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 |
| ENST00000300036 | 15931764 | 15932126 | 3UTR-3CDS |
| ENST00000300036 | 15826420 | 15826565 | Frame-shift |
| ENST00000300036 | 15832421 | 15832545 | Frame-shift |
| ENST00000300036 | 15838985 | 15839094 | Frame-shift |
| ENST00000300036 | 15847250 | 15847365 | Frame-shift |
| ENST00000300036 | 15917111 | 15917268 | Frame-shift |
| ENST00000300036 | 15829222 | 15829435 | In-frame |
| ENST00000300036 | 15833907 | 15834045 | In-frame |
| ENST00000300036 | 15850197 | 15850371 | In-frame |
| ENST00000300036 | 15851683 | 15851857 | In-frame |
| ENST00000300036 | 15853432 | 15853585 | In-frame |
| ENST00000300036 | 15857652 | 15857748 | In-frame |
| ENST00000300036 | 15865425 | 15865569 | In-frame |
| ENST00000300036 | 15876241 | 15876334 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for MYH11 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000300036 | 6046 | 1972 | 15876241 | 15876334 | 744 | 836 | 211 | 242 |
| ENST00000300036 | 6046 | 1972 | 15865425 | 15865569 | 1000 | 1143 | 296 | 344 |
| ENST00000300036 | 6046 | 1972 | 15857652 | 15857748 | 1144 | 1239 | 344 | 376 |
| ENST00000300036 | 6046 | 1972 | 15853432 | 15853585 | 1359 | 1511 | 416 | 467 |
| ENST00000300036 | 6046 | 1972 | 15851683 | 15851857 | 1512 | 1685 | 467 | 525 |
| ENST00000300036 | 6046 | 1972 | 15850197 | 15850371 | 1686 | 1859 | 525 | 583 |
| ENST00000300036 | 6046 | 1972 | 15833907 | 15834045 | 2970 | 3107 | 953 | 999 |
| ENST00000300036 | 6046 | 1972 | 15829222 | 15829435 | 3404 | 3616 | 1098 | 1168 |
| 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 |
| ENST00000300036 | 6046 | 1972 | 15876241 | 15876334 | 744 | 836 | 211 | 242 |
| ENST00000300036 | 6046 | 1972 | 15865425 | 15865569 | 1000 | 1143 | 296 | 344 |
| ENST00000300036 | 6046 | 1972 | 15857652 | 15857748 | 1144 | 1239 | 344 | 376 |
| ENST00000300036 | 6046 | 1972 | 15853432 | 15853585 | 1359 | 1511 | 416 | 467 |
| ENST00000300036 | 6046 | 1972 | 15851683 | 15851857 | 1512 | 1685 | 467 | 525 |
| ENST00000300036 | 6046 | 1972 | 15850197 | 15850371 | 1686 | 1859 | 525 | 583 |
| ENST00000300036 | 6046 | 1972 | 15833907 | 15834045 | 2970 | 3107 | 953 | 999 |
| ENST00000300036 | 6046 | 1972 | 15829222 | 15829435 | 3404 | 3616 | 1098 | 1168 |
| 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 |
| P35749 | 211 | 242 | 211 | 211 | Alternative sequence | ID=VSP_043017;Note=In isoform 2 and isoform 3. T->TQGPSFAY;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:16000639;Dbxref=PMID:15489334,PMID:16000639 |
| P35749 | 211 | 242 | 1 | 1972 | Chain | ID=PRO_0000123424;Note=Myosin-11 |
| P35749 | 211 | 242 | 85 | 783 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| P35749 | 296 | 344 | 1 | 1972 | Chain | ID=PRO_0000123424;Note=Myosin-11 |
| P35749 | 296 | 344 | 85 | 783 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| P35749 | 344 | 376 | 1 | 1972 | Chain | ID=PRO_0000123424;Note=Myosin-11 |
| P35749 | 344 | 376 | 85 | 783 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| P35749 | 416 | 467 | 1 | 1972 | Chain | ID=PRO_0000123424;Note=Myosin-11 |
| P35749 | 416 | 467 | 85 | 783 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| P35749 | 467 | 525 | 1 | 1972 | Chain | ID=PRO_0000123424;Note=Myosin-11 |
| P35749 | 467 | 525 | 85 | 783 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| P35749 | 525 | 583 | 1 | 1972 | Chain | ID=PRO_0000123424;Note=Myosin-11 |
| P35749 | 525 | 583 | 85 | 783 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| P35749 | 953 | 999 | 1 | 1972 | Chain | ID=PRO_0000123424;Note=Myosin-11 |
| P35749 | 953 | 999 | 844 | 1934 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35749 | 1098 | 1168 | 1 | 1972 | Chain | ID=PRO_0000123424;Note=Myosin-11 |
| P35749 | 1098 | 1168 | 844 | 1934 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35749 | 1098 | 1168 | 1104 | 1104 | Natural variant | ID=VAR_050205;Note=A->T;Dbxref=dbSNP:rs34263860 |
| 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 |
| P35749 | 211 | 242 | 211 | 211 | Alternative sequence | ID=VSP_043017;Note=In isoform 2 and isoform 3. T->TQGPSFAY;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:16000639;Dbxref=PMID:15489334,PMID:16000639 |
| P35749 | 211 | 242 | 1 | 1972 | Chain | ID=PRO_0000123424;Note=Myosin-11 |
| P35749 | 211 | 242 | 85 | 783 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| P35749 | 296 | 344 | 1 | 1972 | Chain | ID=PRO_0000123424;Note=Myosin-11 |
| P35749 | 296 | 344 | 85 | 783 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| P35749 | 344 | 376 | 1 | 1972 | Chain | ID=PRO_0000123424;Note=Myosin-11 |
| P35749 | 344 | 376 | 85 | 783 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| P35749 | 416 | 467 | 1 | 1972 | Chain | ID=PRO_0000123424;Note=Myosin-11 |
| P35749 | 416 | 467 | 85 | 783 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| P35749 | 467 | 525 | 1 | 1972 | Chain | ID=PRO_0000123424;Note=Myosin-11 |
| P35749 | 467 | 525 | 85 | 783 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| P35749 | 525 | 583 | 1 | 1972 | Chain | ID=PRO_0000123424;Note=Myosin-11 |
| P35749 | 525 | 583 | 85 | 783 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| P35749 | 953 | 999 | 1 | 1972 | Chain | ID=PRO_0000123424;Note=Myosin-11 |
| P35749 | 953 | 999 | 844 | 1934 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35749 | 1098 | 1168 | 1 | 1972 | Chain | ID=PRO_0000123424;Note=Myosin-11 |
| P35749 | 1098 | 1168 | 844 | 1934 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35749 | 1098 | 1168 | 1104 | 1104 | Natural variant | ID=VAR_050205;Note=A->T;Dbxref=dbSNP:rs34263860 |
Top |
SNVs in the skipped exons for MYH11 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - Differential PSIs between mutated versus non-mutated samples. |
MYH11_BRCA_exon_skip_142344_psi_boxplot.png |
MYH11_COAD_exon_skip_142268_psi_boxplot.png |
MYH11_ESCA_exon_skip_142268_psi_boxplot.png |
| - 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 |
| ACC | TCGA-PK-A5HB-01 | exon_skip_142268 | 15802660 | 15802698 | 15802687 | 15802687 | Frame_Shift_Del | G | - | p.P1940fs |
| COAD | TCGA-A6-6781-01 | exon_skip_142268 | 15802660 | 15802698 | 15802687 | 15802687 | Frame_Shift_Del | G | - | p.P1940fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_142268 | 15802660 | 15802698 | 15802687 | 15802687 | Frame_Shift_Del | G | - | p.P1940fs |
| COAD | TCGA-D5-6930-01 | exon_skip_142268 | 15802660 | 15802698 | 15802687 | 15802687 | Frame_Shift_Del | G | - | p.P1940fs |
| COAD | TCGA-G4-6628-01 | exon_skip_142268 | 15802660 | 15802698 | 15802687 | 15802687 | Frame_Shift_Del | G | - | p.P1940fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_142320 | 15829223 | 15829435 | 15829274 | 15829274 | Frame_Shift_Del | T | - | p.K1152fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_142323 | 15832422 | 15832545 | 15832454 | 15832454 | Frame_Shift_Del | T | - | p.N1030fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_142323 | 15832422 | 15832545 | 15832454 | 15832454 | Frame_Shift_Del | T | - | p.N1030fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_142323 | 15832422 | 15832545 | 15832481 | 15832481 | Frame_Shift_Del | T | - | p.K1021fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_142326 | 15833908 | 15834045 | 15834007 | 15834007 | Frame_Shift_Del | C | - | p.R966fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_142333 | 15850198 | 15850371 | 15850347 | 15850347 | Frame_Shift_Del | G | - | p.L535fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_142335 | 15851684 | 15851857 | 15851726 | 15851726 | Frame_Shift_Del | A | - | p.F511fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_142342 | 15876242 | 15876334 | 15876271 | 15876271 | Frame_Shift_Del | T | - | p.T233fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_142342 | 15876242 | 15876334 | 15876271 | 15876271 | Frame_Shift_Del | T | - | p.T240fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_142342 | 15876242 | 15876334 | 15876271 | 15876271 | Frame_Shift_Del | T | - | p.T233fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_142342 | 15876242 | 15876334 | 15876303 | 15876303 | Frame_Shift_Del | T | - | p.N222fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_142348 | 15917112 | 15917268 | 15917183 | 15917183 | Frame_Shift_Del | C | - | p.G144fs |
| SKCM | TCGA-EE-A2ML-06 | exon_skip_142349 | 15931765 | 15932126 | 15931989 | 15931989 | Frame_Shift_Del | C | - | p.E41fs |
| ACC | TCGA-OR-A5LB-01 | exon_skip_142268 | 15802660 | 15802698 | 15802686 | 15802687 | Frame_Shift_Ins | - | G | p.P1940fs |
| COAD | TCGA-CM-6674-01 | exon_skip_142268 | 15802660 | 15802698 | 15802686 | 15802687 | Frame_Shift_Ins | - | G | p.P1940fs |
| ESCA | TCGA-L5-A43J-01 | exon_skip_142268 | 15802660 | 15802698 | 15802686 | 15802687 | Frame_Shift_Ins | - | G | p.Q1941fs |
| ESCA | TCGA-L5-A8NJ-01 | exon_skip_142329 | 15838986 | 15839094 | 15839072 | 15839072 | Nonsense_Mutation | G | A | p.Q819* |
| ESCA | TCGA-L5-A8NJ-01 | exon_skip_142329 | 15838986 | 15839094 | 15839072 | 15839072 | Nonsense_Mutation | G | A | p.Q819X |
| LUAD | TCGA-NJ-A4YP-01 | exon_skip_142333 | 15850198 | 15850371 | 15850335 | 15850335 | Nonsense_Mutation | C | A | p.E538* |
| GBM | TCGA-19-2623-01 | exon_skip_142339 | 15857653 | 15857748 | 15857677 | 15857677 | Nonsense_Mutation | G | A | p.Q376* |
| LUSC | TCGA-37-5819-01 | exon_skip_142342 | 15876242 | 15876334 | 15876249 | 15876249 | Nonsense_Mutation | G | T | p.S247* |
| HNSC | TCGA-CR-6472-01 | exon_skip_142348 | 15917112 | 15917268 | 15917115 | 15917115 | Nonsense_Mutation | G | A | p.Q167* |
| BLCA | TCGA-MV-A51V-01 | exon_skip_142349 | 15931765 | 15932126 | 15931778 | 15931778 | Nonsense_Mutation | G | C | p.S111* |
| BRCA | TCGA-E2-A1L7-01 | exon_skip_142344 | 15878555 | 15878575 | 15878554 | 15878554 | Splice_Site | C | T | e5+1 |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_142344 | 15878555 | 15878575 | 15878554 | 15878554 | Splice_Site | C | T | e5+1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-E2-A1L7-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_142344 | |
| Skipped exon start: 15878555 | |
| Skipped exon end: 15878575 | |
| Mutation start: 15878554 | |
| Mutation end: 15878554 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: e5+1 | |
exon_skip_142344_BRCA_TCGA-E2-A1L7-01.png | |
exon_skip_92560_BRCA_TCGA-E2-A1L7-01.png | |
exon_skip_92567_BRCA_TCGA-E2-A1L7-01.png | |
exon_skip_92572_BRCA_TCGA-E2-A1L7-01.png | |
exon_skip_92573_BRCA_TCGA-E2-A1L7-01.png | |
 | Sample: TCGA-CM-6674-01 |
| Cancer type: COAD | |
| ESID: exon_skip_142268 | |
| Skipped exon start: 15802660 | |
| Skipped exon end: 15802698 | |
| Mutation start: 15802686 | |
| Mutation end: 15802687 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.P1940fs | |
exon_skip_139341_COAD_TCGA-CM-6674-01.png | |
exon_skip_142268_COAD_TCGA-CM-6674-01.png | |
exon_skip_275_COAD_TCGA-CM-6674-01.png | |
exon_skip_276_COAD_TCGA-CM-6674-01.png | |
exon_skip_3814_COAD_TCGA-CM-6674-01.png | |
exon_skip_3815_COAD_TCGA-CM-6674-01.png | |
exon_skip_454975_COAD_TCGA-CM-6674-01.png | |
exon_skip_489149_COAD_TCGA-CM-6674-01.png | |
exon_skip_86786_COAD_TCGA-CM-6674-01.png | |
 | Sample: TCGA-A6-6781-01 |
| Cancer type: COAD | |
| ESID: exon_skip_142268 | |
| Skipped exon start: 15802660 | |
| Skipped exon end: 15802698 | |
| Mutation start: 15802687 | |
| Mutation end: 15802687 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.P1940fs | |
exon_skip_113241_COAD_TCGA-A6-6781-01.png | |
exon_skip_142268_COAD_TCGA-A6-6781-01.png | |
exon_skip_347536_COAD_TCGA-A6-6781-01.png | |
exon_skip_3490_COAD_TCGA-A6-6781-01.png | |
exon_skip_35193_COAD_TCGA-A6-6781-01.png | |
exon_skip_390969_COAD_TCGA-A6-6781-01.png | |
exon_skip_438601_COAD_TCGA-A6-6781-01.png | |
exon_skip_438605_COAD_TCGA-A6-6781-01.png | |
exon_skip_77217_COAD_TCGA-A6-6781-01.png | |
 | Sample: TCGA-AZ-6598-01 |
| Cancer type: COAD | |
| ESID: exon_skip_142268 | |
| Skipped exon start: 15802660 | |
| Skipped exon end: 15802698 | |
| Mutation start: 15802687 | |
| Mutation end: 15802687 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.P1940fs | |
exon_skip_11218_COAD_TCGA-AZ-6598-01.png | |
exon_skip_11256_COAD_TCGA-AZ-6598-01.png | |
exon_skip_11259_COAD_TCGA-AZ-6598-01.png | |
exon_skip_11263_COAD_TCGA-AZ-6598-01.png | |
exon_skip_135111_COAD_TCGA-AZ-6598-01.png | |
exon_skip_135112_COAD_TCGA-AZ-6598-01.png | |
exon_skip_135114_COAD_TCGA-AZ-6598-01.png | |
exon_skip_139080_COAD_TCGA-AZ-6598-01.png | |
exon_skip_142268_COAD_TCGA-AZ-6598-01.png | |
exon_skip_149455_COAD_TCGA-AZ-6598-01.png | |
exon_skip_300996_COAD_TCGA-AZ-6598-01.png | |
exon_skip_303809_COAD_TCGA-AZ-6598-01.png | |
exon_skip_357723_COAD_TCGA-AZ-6598-01.png | |
exon_skip_384067_COAD_TCGA-AZ-6598-01.png | |
exon_skip_384069_COAD_TCGA-AZ-6598-01.png | |
exon_skip_384070_COAD_TCGA-AZ-6598-01.png | |
exon_skip_434039_COAD_TCGA-AZ-6598-01.png | |
exon_skip_434040_COAD_TCGA-AZ-6598-01.png | |
exon_skip_434375_COAD_TCGA-AZ-6598-01.png | |
exon_skip_434763_COAD_TCGA-AZ-6598-01.png | |
exon_skip_439048_COAD_TCGA-AZ-6598-01.png | |
exon_skip_49506_COAD_TCGA-AZ-6598-01.png | |
exon_skip_54471_COAD_TCGA-AZ-6598-01.png | |
exon_skip_54472_COAD_TCGA-AZ-6598-01.png | |
exon_skip_84515_COAD_TCGA-AZ-6598-01.png | |
 | Sample: TCGA-D5-6930-01 |
| Cancer type: COAD | |
| ESID: exon_skip_142268 | |
| Skipped exon start: 15802660 | |
| Skipped exon end: 15802698 | |
| Mutation start: 15802687 | |
| Mutation end: 15802687 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.P1940fs | |
exon_skip_142268_COAD_TCGA-D5-6930-01.png | |
exon_skip_339351_COAD_TCGA-D5-6930-01.png | |
exon_skip_374468_COAD_TCGA-D5-6930-01.png | |
exon_skip_374469_COAD_TCGA-D5-6930-01.png | |
exon_skip_435489_COAD_TCGA-D5-6930-01.png | |
exon_skip_440412_COAD_TCGA-D5-6930-01.png | |
exon_skip_450406_COAD_TCGA-D5-6930-01.png | |
 | Sample: TCGA-G4-6628-01 |
| Cancer type: COAD | |
| ESID: exon_skip_142268 | |
| Skipped exon start: 15802660 | |
| Skipped exon end: 15802698 | |
| Mutation start: 15802687 | |
| Mutation end: 15802687 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.P1940fs | |
exon_skip_142268_COAD_TCGA-G4-6628-01.png | |
exon_skip_306804_COAD_TCGA-G4-6628-01.png | |
exon_skip_331095_COAD_TCGA-G4-6628-01.png | |
exon_skip_367235_COAD_TCGA-G4-6628-01.png | |
 | Sample: TCGA-L5-A43J-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_142268 | |
| Skipped exon start: 15802660 | |
| Skipped exon end: 15802698 | |
| Mutation start: 15802686 | |
| Mutation end: 15802687 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.Q1941fs | |
exon_skip_131502_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_142268_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_30909_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_30910_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_30912_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_319572_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_325050_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_342500_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_343170_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_344507_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_390317_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_390320_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_390321_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_445696_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_467372_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_489594_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_500520_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_504965_ESCA_TCGA-L5-A43J-01.png | |
exon_skip_71341_ESCA_TCGA-L5-A43J-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 |
| GP2D_LARGE_INTESTINE | 15857653 | 15857748 | 15857685 | 15857688 | Frame_Shift_Del | TTTC | - | p.RN365fs |
| GP5D_LARGE_INTESTINE | 15857653 | 15857748 | 15857685 | 15857688 | Frame_Shift_Del | TTTC | - | p.RN365fs |
| TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15826421 | 15826565 | 15826427 | 15826427 | Missense_Mutation | G | C | p.F1215L |
| G402_SOFT_TISSUE | 15826421 | 15826565 | 15826461 | 15826461 | Missense_Mutation | G | A | p.A1204V |
| SKMEL28_SKIN | 15826421 | 15826565 | 15826486 | 15826486 | Missense_Mutation | C | T | p.E1196K |
| CHLA9_BONE | 15826421 | 15826565 | 15826512 | 15826512 | Missense_Mutation | G | A | p.T1187M |
| WM793_SKIN | 15826421 | 15826565 | 15826540 | 15826540 | Missense_Mutation | C | T | p.V1178M |
| PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT | 15826421 | 15826565 | 15826561 | 15826561 | Missense_Mutation | T | C | p.K1171E |
| NB7_AUTONOMIC_GANGLIA | 15829223 | 15829435 | 15829284 | 15829284 | Missense_Mutation | C | T | p.E1149K |
| ESO26_OESOPHAGUS | 15829223 | 15829435 | 15829403 | 15829403 | Missense_Mutation | G | T | p.A1109D |
| NCIH250_LUNG | 15829223 | 15829435 | 15829418 | 15829418 | Missense_Mutation | G | C | p.A1104G |
| LUDLU1_LUNG | 15832422 | 15832545 | 15832458 | 15832458 | Missense_Mutation | T | C | p.K1029E |
| HEC59_ENDOMETRIUM | 15832422 | 15832545 | 15832472 | 15832472 | Missense_Mutation | T | A | p.N1024I |
| HS172T_FIBROBLAST | 15832422 | 15832545 | 15832533 | 15832533 | Missense_Mutation | G | C | p.L1004V |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 15833908 | 15834045 | 15833933 | 15833933 | Missense_Mutation | T | G | p.D991A |
| KS1_CENTRAL_NERVOUS_SYSTEM | 15833908 | 15834045 | 15833947 | 15833947 | Missense_Mutation | C | A | p.E986D |
| NB13_AUTONOMIC_GANGLIA | 15833908 | 15834045 | 15833952 | 15833952 | Missense_Mutation | C | T | p.D985N |
| HCC1171_LUNG | 15833908 | 15834045 | 15834011 | 15834011 | Missense_Mutation | G | A | p.A965V |
| RL952_ENDOMETRIUM | 15838986 | 15839094 | 15839038 | 15839038 | Missense_Mutation | C | T | p.C823Y |
| SNU1040_LARGE_INTESTINE | 15838986 | 15839094 | 15839063 | 15839063 | Missense_Mutation | C | T | p.A815T |
| SW982_SOFT_TISSUE | 15847251 | 15847365 | 15847327 | 15847327 | Missense_Mutation | C | T | p.M596I |
| MEWO_SKIN | 15850198 | 15850371 | 15850323 | 15850324 | Missense_Mutation | GG | AA | p.P542S |
| ETK1_BILIARY_TRACT | 15851684 | 15851857 | 15851688 | 15851688 | Missense_Mutation | C | A | p.R524L |
| SHP77_LUNG | 15851684 | 15851857 | 15851710 | 15851710 | Missense_Mutation | G | T | p.P517T |
| M14_SKIN | 15853433 | 15853585 | 15853489 | 15853489 | Missense_Mutation | G | A | p.R449W |
| MDAMB435S_SKIN | 15853433 | 15853585 | 15853489 | 15853489 | Missense_Mutation | G | A | p.R449W |
| H2369_PLEURA | 15853433 | 15853585 | 15853576 | 15853576 | Missense_Mutation | C | T | p.A420T |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15853433 | 15853585 | 15853582 | 15853582 | Missense_Mutation | C | T | p.D418N |
| NCIN87_STOMACH | 15865426 | 15865569 | 15865489 | 15865489 | Missense_Mutation | C | T | p.E324K |
| L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15876242 | 15876334 | 15876295 | 15876295 | Missense_Mutation | G | C | p.L225V |
| ES7_BONE | 15917112 | 15917268 | 15917145 | 15917145 | Missense_Mutation | T | C | p.I157V |
| COLO678_LARGE_INTESTINE | 15917112 | 15917268 | 15917196 | 15917196 | Missense_Mutation | C | T | p.D140N |
| SNU175_LARGE_INTESTINE | 15931765 | 15932126 | 15931818 | 15931818 | Missense_Mutation | C | T | p.E98K |
| A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15931765 | 15932126 | 15931865 | 15931865 | Missense_Mutation | G | T | p.P82H |
| OACP4C_OESOPHAGUS | 15931765 | 15932126 | 15931873 | 15931873 | Missense_Mutation | C | T | p.M79I |
| SNU81_LARGE_INTESTINE | 15931765 | 15932126 | 15931890 | 15931890 | Missense_Mutation | C | A | p.D74Y |
| NCIH1573_LUNG | 15931765 | 15932126 | 15931901 | 15931901 | Missense_Mutation | G | T | p.T70K |
| HCC2998_LARGE_INTESTINE | 15931765 | 15932126 | 15931951 | 15931951 | Missense_Mutation | C | A | p.E53D |
| KYSE220_OESOPHAGUS | 15931765 | 15932126 | 15931980 | 15931980 | Missense_Mutation | C | T | p.G44S |
| COV644_OVARY | 15931765 | 15932126 | 15932016 | 15932016 | Missense_Mutation | C | T | p.A32T |
| MFE319_ENDOMETRIUM | 15931765 | 15932126 | 15932016 | 15932016 | Missense_Mutation | C | T | p.A32T |
| SNU1040_LARGE_INTESTINE | 15931765 | 15932126 | 15932082 | 15932082 | Missense_Mutation | C | T | p.D10N |
| KYSE270_OESOPHAGUS | 15931765 | 15932126 | 15932106 | 15932106 | Missense_Mutation | C | T | p.A2T |
| SW684_SOFT_TISSUE | 15931765 | 15932126 | 15932106 | 15932106 | Missense_Mutation | C | T | p.A2T |
| CCLFPEDS0018T_SOFT_TISSUE | 15851684 | 15851857 | 15851685 | 15851685 | Splice_Site | G | A | p.P525L |
| HCC366_LUNG | 15876242 | 15876334 | 15876242 | 15876242 | Splice_Site | G | T | p.F242L |
| NH12_AUTONOMIC_GANGLIA | 15876242 | 15876334 | 15876242 | 15876242 | Splice_Site | G | A | p.F242F |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MYH11 |
| 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_142333 | 16 | 15847250:15847365:15850197:15850371:15851683:15851770 | 15850197:15850371 | ENST00000570785.1,ENST00000576790.2,ENST00000452625.2,ENST00000300036.5,ENST00000396324.3 | PRAD | rs2272554 | chr16:15850204 | A/G | 1.76e-03 |
| exon_skip_142333 | 16 | 15847250:15847365:15850197:15850371:15851683:15851770 | 15850197:15850371 | ENST00000570785.1,ENST00000576790.2,ENST00000452625.2,ENST00000300036.5,ENST00000396324.3 | THCA | rs2272554 | chr16:15850204 | A/G | 2.58e-03 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYH11 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYH11 |
Top |
RelatedDrugs for MYH11 |
| 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 |
Top |
RelatedDiseases for MYH11 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MYH11 | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human |
| MYH11 | C0023479 | Acute myelomonocytic leukemia | 1 | CTD_human;ORPHANET |
| MYH11 | C1851504 | Aortic aneurysm, familial thoracic 4 | 1 | CTD_human;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|