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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 ST3GAL6 |
 Gene summary |
| Gene information | Gene symbol | ST3GAL6 | Gene ID | 10402 |
| Gene name | ST3 beta-galactoside alpha-2,3-sialyltransferase 6 | |
| Synonyms | SIAT10|ST3GALVI | |
| Cytomap | 3q12.1 | |
| Type of gene | protein-coding | |
| Description | type 2 lactosamine alpha-2,3-sialyltransferaseCMP-NeuAc:beta-galactoside alpha-2,3-sialyltransferase VIalpha2,3-sialyltransferase ST3Gal VIsialyltransferase 10 (alpha-2,3-sialyltransferase VI) | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y274 | |
| Context | PubMed: ST3GAL6 [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 |
| ST3GAL6 | GO:0006464 | cellular protein modification process | 10206952 |
| ST3GAL6 | GO:0006664 | glycolipid metabolic process | 10206952 |
| ST3GAL6 | GO:0009311 | oligosaccharide metabolic process | 10206952 |
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Exon skipping events across known transcript of Ensembl for ST3GAL6 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 ST3GAL6 |
| 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 ST3GAL6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_375989 | 3 | 98451318:98451376:98487273:98487373:98489722:98489784 | 98487273:98487373 | ENSG00000064225.8 | ENST00000460774.1,ENST00000469105.1,ENST00000483910.1,ENST00000265261.6,ENST00000486249.1,ENST00000497008.1 |
| exon_skip_375992 | 3 | 98451222:98451376:98491656:98491760:98503788:98503820 | 98491656:98491760 | ENSG00000064225.8 | ENST00000462152.1 |
| exon_skip_376000 | 3 | 98451571:98451855:98475212:98475384:98487273:98487373 | 98475212:98475384 | ENSG00000064225.8 | ENST00000497621.1,ENST00000394162.1 |
| exon_skip_376006 | 3 | 98487282:98487373:98489722:98489800:98491656:98491760 | 98489722:98489800 | ENSG00000064225.8 | ENST00000489112.1,ENST00000460774.1,ENST00000490684.1,ENST00000497621.1,ENST00000492254.1,ENST00000468553.1,ENST00000486334.2,ENST00000485391.1,ENST00000483910.1,ENST00000394162.1,ENST00000497008.1 |
| exon_skip_376008 | 3 | 98489722:98489800:98489964:98490034:98491656:98491760 | 98489964:98490034 | ENSG00000064225.8 | ENST00000495376.1,ENST00000469105.1,ENST00000466482.1,ENST00000265261.6,ENST00000476833.1,ENST00000486249.1 |
| exon_skip_376009 | 3 | 98491656:98491760:98492264:98492340:98492763:98492827 | 98492264:98492340 | ENSG00000064225.8 | ENST00000474595.1 |
| exon_skip_376010 | 3 | 98491656:98491760:98492763:98492827:98501701:98501761 | 98492763:98492827 | ENSG00000064225.8 | ENST00000466482.1 |
| exon_skip_376011 | 3 | 98491656:98491760:98492763:98492827:98502406:98502583 | 98492763:98492827 | ENSG00000064225.8 | ENST00000495376.1 |
| exon_skip_376012 | 3 | 98491656:98491760:98492763:98492827:98503788:98503820 | 98492763:98492827 | ENSG00000064225.8 | ENST00000485145.1,ENST00000497621.1,ENST00000469105.1,ENST00000492254.1,ENST00000486334.2,ENST00000477574.1,ENST00000483910.1,ENST00000394162.1 |
| exon_skip_376026 | 3 | 98492763:98492827:98503788:98503884:98506879:98506916 | 98503788:98503884 | ENSG00000064225.8 | ENST00000485145.1,ENST00000497621.1,ENST00000469105.1,ENST00000492254.1,ENST00000486334.2,ENST00000477574.1,ENST00000483910.1,ENST00000394162.1 |
| exon_skip_376035 | 3 | 98503788:98503884:98506879:98507066:98507169:98507246 | 98506879:98507066 | ENSG00000064225.8 | ENST00000485145.1,ENST00000497621.1,ENST00000469105.1,ENST00000492254.1,ENST00000486334.2,ENST00000493953.1,ENST00000477899.1,ENST00000483910.1,ENST00000462152.1,ENST00000394162.1 |
| exon_skip_376042 | 3 | 98507169:98507307:98510684:98510837:98512518:98512609 | 98510684:98510837 | ENSG00000064225.8 | ENST00000497621.1,ENST00000469105.1,ENST00000483910.1,ENST00000265261.6,ENST00000462152.1,ENST00000394162.1,ENST00000486249.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ST3GAL6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_375989 | 3 | 98451318:98451376:98487273:98487373:98489722:98489784 | 98487273:98487373 | ENSG00000064225.8 | ENST00000483910.1,ENST00000460774.1,ENST00000469105.1,ENST00000486249.1,ENST00000265261.6,ENST00000497008.1 |
| exon_skip_375992 | 3 | 98451222:98451376:98491656:98491760:98503788:98503820 | 98491656:98491760 | ENSG00000064225.8 | ENST00000462152.1 |
| exon_skip_376000 | 3 | 98451571:98451855:98475212:98475384:98487273:98487373 | 98475212:98475384 | ENSG00000064225.8 | ENST00000497621.1,ENST00000394162.1 |
| exon_skip_376008 | 3 | 98489722:98489800:98489964:98490034:98491656:98491760 | 98489964:98490034 | ENSG00000064225.8 | ENST00000469105.1,ENST00000466482.1,ENST00000486249.1,ENST00000265261.6,ENST00000476833.1,ENST00000495376.1 |
| exon_skip_376009 | 3 | 98491656:98491760:98492264:98492340:98492763:98492827 | 98492264:98492340 | ENSG00000064225.8 | ENST00000474595.1 |
| exon_skip_376010 | 3 | 98491656:98491760:98492763:98492827:98501701:98501761 | 98492763:98492827 | ENSG00000064225.8 | ENST00000466482.1 |
| exon_skip_376011 | 3 | 98491656:98491760:98492763:98492827:98502406:98502583 | 98492763:98492827 | ENSG00000064225.8 | ENST00000495376.1 |
| exon_skip_376012 | 3 | 98491656:98491760:98492763:98492827:98503788:98503820 | 98492763:98492827 | ENSG00000064225.8 | ENST00000483910.1,ENST00000469105.1,ENST00000486334.2,ENST00000497621.1,ENST00000394162.1,ENST00000492254.1,ENST00000477574.1,ENST00000485145.1 |
| exon_skip_376026 | 3 | 98492763:98492827:98503788:98503884:98506879:98506916 | 98503788:98503884 | ENSG00000064225.8 | ENST00000483910.1,ENST00000469105.1,ENST00000486334.2,ENST00000497621.1,ENST00000394162.1,ENST00000492254.1,ENST00000477574.1,ENST00000485145.1 |
| exon_skip_376035 | 3 | 98503788:98503884:98506879:98507066:98507169:98507246 | 98506879:98507066 | ENSG00000064225.8 | ENST00000483910.1,ENST00000469105.1,ENST00000462152.1,ENST00000486334.2,ENST00000497621.1,ENST00000394162.1,ENST00000492254.1,ENST00000485145.1,ENST00000477899.1,ENST00000493953.1 |
| exon_skip_376042 | 3 | 98507169:98507307:98510684:98510837:98512518:98512609 | 98510684:98510837 | ENSG00000064225.8 | ENST00000483910.1,ENST00000469105.1,ENST00000462152.1,ENST00000486249.1,ENST00000265261.6,ENST00000497621.1,ENST00000394162.1 |
| 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 ST3GAL6 |
| 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 |
| ENST00000483910 | 98487273 | 98487373 | 5CDS-5UTR |
| ENST00000394162 | 98475212 | 98475384 | 5UTR-5UTR |
| ENST00000394162 | 98492763 | 98492827 | Frame-shift |
| ENST00000483910 | 98492763 | 98492827 | Frame-shift |
| ENST00000394162 | 98506879 | 98507066 | Frame-shift |
| ENST00000483910 | 98506879 | 98507066 | Frame-shift |
| ENST00000394162 | 98489722 | 98489800 | In-frame |
| ENST00000483910 | 98489722 | 98489800 | In-frame |
| ENST00000394162 | 98503788 | 98503884 | In-frame |
| ENST00000483910 | 98503788 | 98503884 | In-frame |
| ENST00000394162 | 98510684 | 98510837 | In-frame |
| ENST00000483910 | 98510684 | 98510837 | 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 |
| ENST00000483910 | 98487273 | 98487373 | 5CDS-5UTR |
| ENST00000394162 | 98475212 | 98475384 | 5UTR-5UTR |
| ENST00000394162 | 98492763 | 98492827 | Frame-shift |
| ENST00000483910 | 98492763 | 98492827 | Frame-shift |
| ENST00000394162 | 98506879 | 98507066 | Frame-shift |
| ENST00000483910 | 98506879 | 98507066 | Frame-shift |
| ENST00000394162 | 98503788 | 98503884 | In-frame |
| ENST00000483910 | 98503788 | 98503884 | In-frame |
| ENST00000394162 | 98510684 | 98510837 | In-frame |
| ENST00000483910 | 98510684 | 98510837 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ST3GAL6 |
| 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 |
| ENST00000394162 | 2109 | 331 | 98489722 | 98489800 | 557 | 634 | 30 | 55 |
| ENST00000483910 | 1903 | 331 | 98489722 | 98489800 | 379 | 456 | 30 | 55 |
| ENST00000394162 | 2109 | 331 | 98503788 | 98503884 | 803 | 898 | 112 | 143 |
| ENST00000483910 | 1903 | 331 | 98503788 | 98503884 | 625 | 720 | 112 | 143 |
| ENST00000394162 | 2109 | 331 | 98510684 | 98510837 | 1224 | 1376 | 252 | 303 |
| ENST00000483910 | 1903 | 331 | 98510684 | 98510837 | 1046 | 1198 | 252 | 303 |
| 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 |
| ENST00000394162 | 2109 | 331 | 98503788 | 98503884 | 803 | 898 | 112 | 143 |
| ENST00000483910 | 1903 | 331 | 98503788 | 98503884 | 625 | 720 | 112 | 143 |
| ENST00000394162 | 2109 | 331 | 98510684 | 98510837 | 1224 | 1376 | 252 | 303 |
| ENST00000483910 | 1903 | 331 | 98510684 | 98510837 | 1046 | 1198 | 252 | 303 |
| 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 |
| Q9Y274 | 30 | 55 | 1 | 86 | Alternative sequence | ID=VSP_047009;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9Y274 | 30 | 55 | 1 | 86 | Alternative sequence | ID=VSP_047009;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9Y274 | 30 | 55 | 1 | 331 | Chain | ID=PRO_0000149305;Note=Type 2 lactosamine alpha-2%2C3-sialyltransferase |
| Q9Y274 | 30 | 55 | 1 | 331 | Chain | ID=PRO_0000149305;Note=Type 2 lactosamine alpha-2%2C3-sialyltransferase |
| Q9Y274 | 30 | 55 | 26 | 331 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 30 | 55 | 26 | 331 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 112 | 143 | 112 | 144 | Alternative sequence | ID=VSP_047010;Note=In isoform 2. NIPCKKCVVVGNGGVLKNKTLGEKIDSYDVIIR->K;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9Y274 | 112 | 143 | 112 | 144 | Alternative sequence | ID=VSP_047010;Note=In isoform 2. NIPCKKCVVVGNGGVLKNKTLGEKIDSYDVIIR->K;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9Y274 | 112 | 143 | 1 | 331 | Chain | ID=PRO_0000149305;Note=Type 2 lactosamine alpha-2%2C3-sialyltransferase |
| Q9Y274 | 112 | 143 | 1 | 331 | Chain | ID=PRO_0000149305;Note=Type 2 lactosamine alpha-2%2C3-sialyltransferase |
| Q9Y274 | 112 | 143 | 129 | 129 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 112 | 143 | 129 | 129 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 112 | 143 | 26 | 331 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 112 | 143 | 26 | 331 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 252 | 303 | 1 | 331 | Chain | ID=PRO_0000149305;Note=Type 2 lactosamine alpha-2%2C3-sialyltransferase |
| Q9Y274 | 252 | 303 | 1 | 331 | Chain | ID=PRO_0000149305;Note=Type 2 lactosamine alpha-2%2C3-sialyltransferase |
| Q9Y274 | 252 | 303 | 282 | 282 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 252 | 303 | 282 | 282 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 252 | 303 | 295 | 295 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 252 | 303 | 295 | 295 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 252 | 303 | 271 | 271 | Sequence conflict | Note=C->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y274 | 252 | 303 | 271 | 271 | Sequence conflict | Note=C->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y274 | 252 | 303 | 26 | 331 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 252 | 303 | 26 | 331 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9Y274 | 112 | 143 | 112 | 144 | Alternative sequence | ID=VSP_047010;Note=In isoform 2. NIPCKKCVVVGNGGVLKNKTLGEKIDSYDVIIR->K;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9Y274 | 112 | 143 | 112 | 144 | Alternative sequence | ID=VSP_047010;Note=In isoform 2. NIPCKKCVVVGNGGVLKNKTLGEKIDSYDVIIR->K;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9Y274 | 112 | 143 | 1 | 331 | Chain | ID=PRO_0000149305;Note=Type 2 lactosamine alpha-2%2C3-sialyltransferase |
| Q9Y274 | 112 | 143 | 1 | 331 | Chain | ID=PRO_0000149305;Note=Type 2 lactosamine alpha-2%2C3-sialyltransferase |
| Q9Y274 | 112 | 143 | 129 | 129 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 112 | 143 | 129 | 129 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 112 | 143 | 26 | 331 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 112 | 143 | 26 | 331 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 252 | 303 | 1 | 331 | Chain | ID=PRO_0000149305;Note=Type 2 lactosamine alpha-2%2C3-sialyltransferase |
| Q9Y274 | 252 | 303 | 1 | 331 | Chain | ID=PRO_0000149305;Note=Type 2 lactosamine alpha-2%2C3-sialyltransferase |
| Q9Y274 | 252 | 303 | 282 | 282 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 252 | 303 | 282 | 282 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 252 | 303 | 295 | 295 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 252 | 303 | 295 | 295 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 252 | 303 | 271 | 271 | Sequence conflict | Note=C->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y274 | 252 | 303 | 271 | 271 | Sequence conflict | Note=C->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y274 | 252 | 303 | 26 | 331 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y274 | 252 | 303 | 26 | 331 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for ST3GAL6 |
| - 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-55-8204-01 | exon_skip_375989 | 98487274 | 98487373 | 98487355 | 98487355 | Frame_Shift_Del | G | - | p.W24fs |
| LUAD | TCGA-17-Z014-01 | exon_skip_375992 | 98491657 | 98491760 | 98491720 | 98491720 | Frame_Shift_Del | T | - | p.G77fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_376012 exon_skip_376010 exon_skip_376011 | 98492764 | 98492827 | 98492771 | 98492771 | Frame_Shift_Del | T | - | p.Y7fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_376026 | 98503789 | 98503884 | 98503799 | 98503799 | Frame_Shift_Del | A | - | p.K117fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_376035 | 98506880 | 98507066 | 98506920 | 98506920 | Frame_Shift_Del | G | - | p.G40fs |
| COAD | TCGA-AA-3663-01 | exon_skip_376035 | 98506880 | 98507066 | 98506942 | 98506942 | Frame_Shift_Del | T | - | p.L165fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_376035 | 98506880 | 98507066 | 98506942 | 98506942 | Frame_Shift_Del | T | - | p.L165fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_376035 | 98506880 | 98507066 | 98506985 | 98506985 | Frame_Shift_Del | C | - | p.D61fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_376035 | 98506880 | 98507066 | 98507061 | 98507061 | Frame_Shift_Del | A | - | p.K87fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_376042 | 98510685 | 98510837 | 98510795 | 98510795 | Frame_Shift_Del | T | - | p.P171fs |
| THYM | TCGA-YT-A95F-01 | exon_skip_376006 | 98489723 | 98489800 | 98489760 | 98489760 | Nonsense_Mutation | C | T | p.Q96X |
| BLCA | TCGA-FD-A6TA-01 | exon_skip_376006 | 98489723 | 98489800 | 98489773 | 98489773 | Nonsense_Mutation | C | G | p.S47* |
| SKCM | TCGA-ER-A19F-06 | exon_skip_376012 exon_skip_376010 exon_skip_376011 | 98492764 | 98492827 | 98492775 | 98492775 | Nonsense_Mutation | C | T | p.R148X |
| SKCM | TCGA-ER-A19F-06 | exon_skip_376012 exon_skip_376010 exon_skip_376011 | 98492764 | 98492827 | 98492775 | 98492775 | Nonsense_Mutation | C | T | p.R9* |
| READ | TCGA-AG-A002-01 | exon_skip_376035 | 98506880 | 98507066 | 98506953 | 98506953 | Nonsense_Mutation | G | T | p.E169X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-ER-A19F-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_376011 | |
| Skipped exon start: 98492764 | |
| Skipped exon end: 98492827 | |
| Mutation start: 98492775 | |
| Mutation end: 98492775 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R148X | |
| Sample: TCGA-ER-A19F-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_376011 | |
| Skipped exon start: 98492764 | |
| Skipped exon end: 98492827 | |
| Mutation start: 98492775 | |
| Mutation end: 98492775 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R9* | |
exon_skip_376012_SKCM_TCGA-ER-A19F-06.png | |
exon_skip_67269_SKCM_TCGA-ER-A19F-06.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 |
| HMVII_SKIN | 98506880 | 98507066 | 98506959 | 98506960 | Frame_Shift_Ins | - | T | p.V171fs |
| HCT116_LARGE_INTESTINE | 98487274 | 98487373 | 98487322 | 98487322 | Missense_Mutation | T | C | p.V13A |
| NEC8_TESTIS | 98489723 | 98489800 | 98489739 | 98489739 | Missense_Mutation | A | G | p.M36V |
| HCC2998_LARGE_INTESTINE | 98489723 | 98489800 | 98489749 | 98489749 | Missense_Mutation | G | T | p.R39I |
| SNUC5_LARGE_INTESTINE | 98491657 | 98491760 | 98491671 | 98491671 | Missense_Mutation | A | G | p.H61R |
| SMZ1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98491657 | 98491760 | 98491724 | 98491724 | Missense_Mutation | G | A | p.D79N |
| SBC1_LUNG | 98491657 | 98491760 | 98491727 | 98491727 | Missense_Mutation | A | G | p.K80E |
| HCC202_BREAST | 98491657 | 98491760 | 98491755 | 98491755 | Missense_Mutation | C | T | p.T89I |
| HT115_LARGE_INTESTINE | 98492764 | 98492827 | 98492776 | 98492776 | Missense_Mutation | G | A | p.R95Q |
| RERFLCKJ_LUNG | 98492764 | 98492827 | 98492818 | 98492818 | Missense_Mutation | A | T | p.E109V |
| 639V_URINARY_TRACT | 98503789 | 98503884 | 98503845 | 98503845 | Missense_Mutation | C | A | p.T131K |
| HEC59_ENDOMETRIUM | 98506880 | 98507066 | 98506935 | 98506935 | Missense_Mutation | T | C | p.F163L |
| SNU503_LARGE_INTESTINE | 98506880 | 98507066 | 98506987 | 98506987 | Missense_Mutation | C | A | p.P180H |
| MHHCALL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98506880 | 98507066 | 98507052 | 98507052 | Missense_Mutation | A | G | p.M202V |
| RH36_SOFT_TISSUE | 98510685 | 98510837 | 98510688 | 98510688 | Missense_Mutation | C | G | p.P254A |
| HEC151_ENDOMETRIUM | 98510685 | 98510837 | 98510769 | 98510769 | Missense_Mutation | T | A | p.Y281N |
| SNU1040_LARGE_INTESTINE | 98510685 | 98510837 | 98510809 | 98510809 | Missense_Mutation | G | A | p.G294E |
| NCIH661_LUNG | 98492764 | 98492827 | 98492775 | 98492775 | Nonsense_Mutation | C | T | p.R95* |
| OE21_OESOPHAGUS | 98506880 | 98507066 | 98506900 | 98506900 | Nonsense_Mutation | T | A | p.L151* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ST3GAL6 |
| 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 ST3GAL6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ST3GAL6 |
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RelatedDrugs for ST3GAL6 |
| 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 ST3GAL6 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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