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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 ST8SIA4 |
 Gene summary |
| Gene information | Gene symbol | ST8SIA4 | Gene ID | 7903 |
| Gene name | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | |
| Synonyms | PST|PST1|SIAT8D|ST8SIA-IV | |
| Cytomap | 5q21.1 | |
| Type of gene | protein-coding | |
| Description | CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferaseCMP-N-acetylneuraminate-poly-alpha-2,8-sialyl transferaseSIAT8-DST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 4ST8SiaIValpha-2,8-sialyltransferase 8Dpolysialyltransferase-1sialyltr | |
| Modification date | 20180519 | |
| UniProtAcc | Q92187 | |
| Context | PubMed: ST8SIA4 [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 |
| ST8SIA4 | GO:0001574 | ganglioside biosynthetic process | 10766765 |
| ST8SIA4 | GO:0006486 | protein glycosylation | 10766765 |
| ST8SIA4 | GO:0006491 | N-glycan processing | 10766765 |
| ST8SIA4 | GO:0009311 | oligosaccharide metabolic process | 10766765 |
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Exon skipping events across known transcript of Ensembl for ST8SIA4 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 ST8SIA4 |
| 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 ST8SIA4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443374 | 5 | 100142638:100147833:100191806:100192100:100222046:100222304 | 100191806:100192100 | ENSG00000113532.8 | ENST00000231461.5 |
| exon_skip_443375 | 5 | 100191806:100192100:100222046:100222304:100231357:100231487 | 100222046:100222304 | ENSG00000113532.8 | ENST00000231461.5 |
| exon_skip_443376 | 5 | 100231365:100231489:100236018:100236167:100238546:100238918 | 100236018:100236167 | ENSG00000113532.8 | ENST00000523381.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ST8SIA4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443374 | 5 | 100142638:100147833:100191806:100192100:100222046:100222304 | 100191806:100192100 | ENSG00000113532.8 | ENST00000231461.5 |
| exon_skip_443375 | 5 | 100191806:100192100:100222046:100222304:100231357:100231487 | 100222046:100222304 | ENSG00000113532.8 | ENST00000231461.5 |
| exon_skip_443376 | 5 | 100231365:100231489:100236018:100236167:100238546:100238918 | 100236018:100236167 | ENSG00000113532.8 | ENST00000523381.1 |
| 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 ST8SIA4 |
| 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 |
| ENST00000231461 | 100191806 | 100192100 | In-frame |
| ENST00000231461 | 100222046 | 100222304 | 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 |
| ENST00000231461 | 100191806 | 100192100 | In-frame |
| ENST00000231461 | 100222046 | 100222304 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ST8SIA4 |
| 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 |
| ENST00000231461 | 6320 | 359 | 100222046 | 100222304 | 557 | 814 | 82 | 167 |
| ENST00000231461 | 6320 | 359 | 100191806 | 100192100 | 815 | 1108 | 168 | 265 |
| 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 |
| ENST00000231461 | 6320 | 359 | 100222046 | 100222304 | 557 | 814 | 82 | 167 |
| ENST00000231461 | 6320 | 359 | 100191806 | 100192100 | 815 | 1108 | 168 | 265 |
| 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 |
| Q92187 | 82 | 167 | 1 | 359 | Chain | ID=PRO_0000149293;Note=CMP-N-acetylneuraminate-poly-alpha-2%2C8-sialyltransferase |
| Q92187 | 82 | 167 | 142 | 292 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11279095;Dbxref=PMID:11279095 |
| Q92187 | 82 | 167 | 156 | 356 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11279095;Dbxref=PMID:11279095 |
| Q92187 | 82 | 167 | 119 | 119 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92187 | 82 | 167 | 92 | 92 | Natural variant | ID=VAR_036169;Note=In a colorectal cancer sample%3B somatic mutation. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| Q92187 | 82 | 167 | 21 | 359 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92187 | 168 | 265 | 169 | 359 | Alternative sequence | ID=VSP_044867;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q92187 | 168 | 265 | 170 | 170 | Binding site | Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O43173 |
| Q92187 | 168 | 265 | 1 | 359 | Chain | ID=PRO_0000149293;Note=CMP-N-acetylneuraminate-poly-alpha-2%2C8-sialyltransferase |
| Q92187 | 168 | 265 | 142 | 292 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11279095;Dbxref=PMID:11279095 |
| Q92187 | 168 | 265 | 156 | 356 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11279095;Dbxref=PMID:11279095 |
| Q92187 | 168 | 265 | 204 | 204 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92187 | 168 | 265 | 219 | 219 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92187 | 168 | 265 | 260 | 269 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5Y22 |
| Q92187 | 168 | 265 | 191 | 193 | Region | Note=Substrate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O43173 |
| Q92187 | 168 | 265 | 21 | 359 | 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 |
| Q92187 | 82 | 167 | 1 | 359 | Chain | ID=PRO_0000149293;Note=CMP-N-acetylneuraminate-poly-alpha-2%2C8-sialyltransferase |
| Q92187 | 82 | 167 | 142 | 292 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11279095;Dbxref=PMID:11279095 |
| Q92187 | 82 | 167 | 156 | 356 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11279095;Dbxref=PMID:11279095 |
| Q92187 | 82 | 167 | 119 | 119 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92187 | 82 | 167 | 92 | 92 | Natural variant | ID=VAR_036169;Note=In a colorectal cancer sample%3B somatic mutation. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| Q92187 | 82 | 167 | 21 | 359 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92187 | 168 | 265 | 169 | 359 | Alternative sequence | ID=VSP_044867;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q92187 | 168 | 265 | 170 | 170 | Binding site | Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O43173 |
| Q92187 | 168 | 265 | 1 | 359 | Chain | ID=PRO_0000149293;Note=CMP-N-acetylneuraminate-poly-alpha-2%2C8-sialyltransferase |
| Q92187 | 168 | 265 | 142 | 292 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11279095;Dbxref=PMID:11279095 |
| Q92187 | 168 | 265 | 156 | 356 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11279095;Dbxref=PMID:11279095 |
| Q92187 | 168 | 265 | 204 | 204 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92187 | 168 | 265 | 219 | 219 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92187 | 168 | 265 | 260 | 269 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5Y22 |
| Q92187 | 168 | 265 | 191 | 193 | Region | Note=Substrate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O43173 |
| Q92187 | 168 | 265 | 21 | 359 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for ST8SIA4 |
| - 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 |
| ESCA | TCGA-IG-A4QS-01 | exon_skip_443374 | 100191807 | 100192100 | 100191934 | 100191934 | Frame_Shift_Del | A | - | p.W224fs |
| ESCA | TCGA-IG-A4QS-01 | exon_skip_443374 | 100191807 | 100192100 | 100191934 | 100191934 | Frame_Shift_Del | A | - | p.W224X |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_443374 | 100191807 | 100192100 | 100191974 | 100191974 | Frame_Shift_Del | T | - | p.K210fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_443374 | 100191807 | 100192100 | 100192059 | 100192059 | Frame_Shift_Del | C | - | p.G182fs |
| MESO | TCGA-UD-AAC1-01 | exon_skip_443375 | 100222047 | 100222304 | 100222244 | 100222244 | Frame_Shift_Del | A | - | p.F102fs |
| PRAD | TCGA-J4-8200-01 | exon_skip_443375 | 100222047 | 100222304 | 100222192 | 100222193 | Frame_Shift_Ins | - | G | p.I120fs |
| PRAD | TCGA-J4-8200-01 | exon_skip_443375 | 100222047 | 100222304 | 100222192 | 100222193 | Frame_Shift_Ins | - | G | p.NF119fs |
| CESC | TCGA-C5-A7CK-01 | exon_skip_443374 | 100191807 | 100192100 | 100191850 | 100191850 | Nonsense_Mutation | G | A | p.R252* |
| COAD | TCGA-AZ-4315-01 | exon_skip_443374 | 100191807 | 100192100 | 100191997 | 100191997 | Nonsense_Mutation | G | A | p.R203X |
| - 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 |
| MEWO_SKIN | 100191807 | 100192100 | 100191820 | 100191820 | Missense_Mutation | G | A | p.H262Y |
| NCIH2066_LUNG | 100191807 | 100192100 | 100191849 | 100191849 | Missense_Mutation | C | A | p.R252L |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100191807 | 100192100 | 100191856 | 100191856 | Missense_Mutation | T | G | p.K250Q |
| SW1463_LARGE_INTESTINE | 100191807 | 100192100 | 100191866 | 100191866 | Missense_Mutation | C | G | p.K246N |
| LU65_LUNG | 100191807 | 100192100 | 100191887 | 100191887 | Missense_Mutation | C | A | p.W239C |
| SW900_LUNG | 100191807 | 100192100 | 100191895 | 100191895 | Missense_Mutation | C | A | p.V237L |
| UACC62_SKIN | 100191807 | 100192100 | 100191916 | 100191917 | Missense_Mutation | CC | TT | p.229_230MV>II |
| JHUEM7_ENDOMETRIUM | 100191807 | 100192100 | 100191922 | 100191922 | Missense_Mutation | A | C | p.F228V |
| MM386_SKIN | 100222047 | 100222304 | 100222080 | 100222080 | Missense_Mutation | C | T | p.G157E |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100222047 | 100222304 | 100222104 | 100222104 | Missense_Mutation | C | T | p.G149D |
| TE10_OESOPHAGUS | 100222047 | 100222304 | 100222204 | 100222204 | Missense_Mutation | G | A | p.R116W |
| HCC1195_LUNG | 100222047 | 100222304 | 100222204 | 100222204 | Missense_Mutation | G | C | p.R116G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ST8SIA4 |
| 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 ST8SIA4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ST8SIA4 |
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RelatedDrugs for ST8SIA4 |
| 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 ST8SIA4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ST8SIA4 | C0036341 | Schizophrenia | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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