|
||||||
|
 | |
| |
| |
| |
| 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 ST8SIA6 |
 Gene summary |
| Gene information | Gene symbol | ST8SIA6 | Gene ID | 338596 |
| Gene name | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 | |
| Synonyms | SIA8F|SIAT8-F|SIAT8F|ST8SIA-VI|ST8SiaVI | |
| Cytomap | 10p12.33 | |
| Type of gene | protein-coding | |
| Description | alpha-2,8-sialyltransferase 8FST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 6sialyltransferase 8F (alpha-2, 8-sialyltransferase)sialyltransferase St8Sia VI | |
| Modification date | 20180519 | |
| UniProtAcc | P61647 | |
| Context | PubMed: ST8SIA6 [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 ST8SIA6 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 ST8SIA6 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for ST8SIA6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_48112 | 10 | 17363188:17363345:17365063:17365156:17369012:17369108 | 17365063:17365156 | ENSG00000148488.11 | ENST00000377602.4 |
| exon_skip_48115 | 10 | 17365063:17365156:17369012:17369125:17373406:17373499 | 17369012:17369125 | ENSG00000148488.11 | ENST00000377602.4 |
| exon_skip_48118 | 10 | 17373406:17373551:17401512:17401599:17432529:17432619 | 17401512:17401599 | ENSG00000148488.11 | ENST00000377602.4 |
| exon_skip_48124 | 10 | 17401512:17401599:17432529:17432619:17495557:17495656 | 17432529:17432619 | ENSG00000148488.11 | ENST00000377602.4 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for ST8SIA6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_48112 | 10 | 17363188:17363345:17365063:17365156:17369012:17369108 | 17365063:17365156 | ENSG00000148488.11 | ENST00000377602.4 |
| exon_skip_48115 | 10 | 17365063:17365156:17369012:17369125:17373406:17373499 | 17369012:17369125 | ENSG00000148488.11 | ENST00000377602.4 |
| exon_skip_48118 | 10 | 17373406:17373551:17401512:17401599:17432529:17432619 | 17401512:17401599 | ENSG00000148488.11 | ENST00000377602.4 |
| exon_skip_48124 | 10 | 17401512:17401599:17432529:17432619:17495557:17495656 | 17432529:17432619 | ENSG00000148488.11 | ENST00000377602.4 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ST8SIA6 |
| 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 |
| ENST00000377602 | 17369012 | 17369125 | Frame-shift |
| ENST00000377602 | 17365063 | 17365156 | In-frame |
| ENST00000377602 | 17401512 | 17401599 | In-frame |
| ENST00000377602 | 17432529 | 17432619 | 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 |
| ENST00000377602 | 17369012 | 17369125 | Frame-shift |
| ENST00000377602 | 17365063 | 17365156 | In-frame |
| ENST00000377602 | 17401512 | 17401599 | In-frame |
| ENST00000377602 | 17432529 | 17432619 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for ST8SIA6 |
| 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 |
| ENST00000377602 | 2293 | 398 | 17432529 | 17432619 | 276 | 365 | 67 | 96 |
| ENST00000377602 | 2293 | 398 | 17401512 | 17401599 | 366 | 452 | 97 | 125 |
| ENST00000377602 | 2293 | 398 | 17365063 | 17365156 | 711 | 803 | 212 | 242 |
| 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 |
| ENST00000377602 | 2293 | 398 | 17432529 | 17432619 | 276 | 365 | 67 | 96 |
| ENST00000377602 | 2293 | 398 | 17401512 | 17401599 | 366 | 452 | 97 | 125 |
| ENST00000377602 | 2293 | 398 | 17365063 | 17365156 | 711 | 803 | 212 | 242 |
| 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 |
| P61647 | 67 | 96 | 1 | 398 | Chain | ID=PRO_0000149299;Note=Alpha-2%2C8-sialyltransferase 8F |
| P61647 | 67 | 96 | 93 | 93 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P61647 | 67 | 96 | 25 | 398 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P61647 | 97 | 125 | 1 | 398 | Chain | ID=PRO_0000149299;Note=Alpha-2%2C8-sialyltransferase 8F |
| P61647 | 97 | 125 | 25 | 398 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P61647 | 212 | 242 | 214 | 214 | Binding site | Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O43173 |
| P61647 | 212 | 242 | 1 | 398 | Chain | ID=PRO_0000149299;Note=Alpha-2%2C8-sialyltransferase 8F |
| P61647 | 212 | 242 | 186 | 335 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O43173 |
| P61647 | 212 | 242 | 200 | 395 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O43173 |
| P61647 | 212 | 242 | 236 | 238 | Region | Note=Substrate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O43173 |
| P61647 | 212 | 242 | 25 | 398 | 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 |
| P61647 | 67 | 96 | 1 | 398 | Chain | ID=PRO_0000149299;Note=Alpha-2%2C8-sialyltransferase 8F |
| P61647 | 67 | 96 | 93 | 93 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P61647 | 67 | 96 | 25 | 398 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P61647 | 97 | 125 | 1 | 398 | Chain | ID=PRO_0000149299;Note=Alpha-2%2C8-sialyltransferase 8F |
| P61647 | 97 | 125 | 25 | 398 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P61647 | 212 | 242 | 214 | 214 | Binding site | Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O43173 |
| P61647 | 212 | 242 | 1 | 398 | Chain | ID=PRO_0000149299;Note=Alpha-2%2C8-sialyltransferase 8F |
| P61647 | 212 | 242 | 186 | 335 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O43173 |
| P61647 | 212 | 242 | 200 | 395 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O43173 |
| P61647 | 212 | 242 | 236 | 238 | Region | Note=Substrate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O43173 |
| P61647 | 212 | 242 | 25 | 398 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Top |
SNVs in the skipped exons for ST8SIA6 |
| - 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. |
| - 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 |
| LUSC | TCGA-22-5480-01 | exon_skip_48112 | 17365064 | 17365156 | 17365142 | 17365142 | Frame_Shift_Del | G | - | p.P217fs |
| BRCA | TCGA-BH-A0BZ-01 | exon_skip_48124 | 17432530 | 17432619 | 17432557 | 17432563 | Frame_Shift_Del | ATGCCAT | - | p.Y86fs |
| LUAD | TCGA-86-8073-01 | exon_skip_48112 | 17365064 | 17365156 | 17365095 | 17365096 | Frame_Shift_Ins | - | A | p.D233fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_48112 | 17365064 | 17365156 | 17365141 | 17365142 | Frame_Shift_Ins | - | G | p.H217fs |
| LUSC | TCGA-46-3769-01 | exon_skip_48115 | 17369013 | 17369125 | 17369069 | 17369070 | Frame_Shift_Ins | - | C | p.G193fs |
| COAD | TCGA-CA-6717-01 | exon_skip_48118 | 17401513 | 17401599 | 17401529 | 17401529 | Nonsense_Mutation | C | A | p.E121X |
| LIHC | TCGA-CC-A9FS-01 | exon_skip_48118 | 17401513 | 17401599 | 17401546 | 17401546 | Nonsense_Mutation | C | T | p.W115X |
| - 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 |
| HEC251_ENDOMETRIUM | 17365064 | 17365156 | 17365098 | 17365098 | Missense_Mutation | G | T | p.L232I |
| HCC2998_LARGE_INTESTINE | 17369013 | 17369125 | 17369026 | 17369026 | Missense_Mutation | C | T | p.D208N |
| BPH1_PROSTATE | 17369013 | 17369125 | 17369070 | 17369070 | Missense_Mutation | C | T | p.G193E |
| CP66MEL_SKIN | 17369013 | 17369125 | 17369071 | 17369071 | Missense_Mutation | C | T | p.G193R |
| NCIH2227_LUNG | 17369013 | 17369125 | 17369098 | 17369098 | Missense_Mutation | T | A | p.N184Y |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17401513 | 17401599 | 17401526 | 17401526 | Missense_Mutation | A | G | p.Y122H |
| KS1_CENTRAL_NERVOUS_SYSTEM | 17432530 | 17432619 | 17432587 | 17432587 | Missense_Mutation | G | A | p.T78M |
| SNU1040_LARGE_INTESTINE | 17432530 | 17432619 | 17432614 | 17432614 | Missense_Mutation | T | C | p.Y69C |
| HT115_LARGE_INTESTINE | 17401513 | 17401599 | 17401529 | 17401529 | Nonsense_Mutation | C | A | p.E121* |
| NCIH3122_LUNG | 17432530 | 17432619 | 17432530 | 17432530 | Splice_Site | C | T | p.G97E |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ST8SIA6 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ST8SIA6 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ST8SIA6 |
Top |
RelatedDrugs for ST8SIA6 |
| 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 ST8SIA6 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|