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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for ST6GALNAC3 |
Gene summary |
Gene information | Gene symbol | ST6GALNAC3 | Gene ID | 256435 |
Gene name | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 | |
Synonyms | PRO7177|SIAT7C|ST6GALNACIII|STY | |
Cytomap | 1p31.1 | |
Type of gene | protein-coding | |
Description | alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3GalNAc alpha-2,6-sialyltransferase IIIST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltranST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3) | |
Modification date | 20200313 | |
UniProtAcc | A0A087WWK2, Q8NDV1, | |
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
ST6GALNAC3 | GO:0006677 | glycosylceramide metabolic process | 17123352 |
ST6GALNAC3 | GO:0006687 | glycosphingolipid metabolic process | 17123352 |
ST6GALNAC3 | GO:0009100 | glycoprotein metabolic process | 17123352 |
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Gene structures and expression levels for ST6GALNAC3 |
Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
TC | UP | ENST00000621530.1 | ST6GALNAC3-203:protein_coding:ST6GALNAC3 | 1.531555e+01 | 1.494363e+00 | 1.835750e-09 | 2.175008e-07 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ST6GALNAC3 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_109176 | chr1 | 76412008:76412417:76627452:76627559:76628620:76631131 | 76627452:76627559 |
exon_skip_50322 | chr1 | 76412008:76412417:76627452:76627559:76628620:76634603 | 76627452:76627559 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for ST6GALNAC3 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000328299 | 76627452 | 76627559 | In-frame |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000328299 | 76627452 | 76627559 | In-frame |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000328299 | 76627452 | 76627559 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ST6GALNAC3 |
p-ENSG00000184005_img4.png |
Loci of skipped exons in ROSMAP 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 |
ENST00000328299 | 6878 | 305 | 76627452 | 76627559 | 773 | 879 | 208 | 243 |
Loci of skipped exons in MSBB 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 |
ENST00000328299 | 6878 | 305 | 76627452 | 76627559 | 773 | 879 | 208 | 243 |
Loci of skipped exons in Mayo 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 |
ENST00000328299 | 6878 | 305 | 76627452 | 76627559 | 773 | 879 | 208 | 243 |
Lost protein functional features of individual exon skipping events in ROSMAP. |
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 |
Q8NDV1 | 208 | 243 | 208 | 210 | Alternative sequence | ID=VSP_013218;Note=In isoform 2. RVQ->STE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
Q8NDV1 | 208 | 243 | 211 | 305 | Alternative sequence | ID=VSP_013219;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
Q8NDV1 | 208 | 243 | 1 | 305 | Chain | ID=PRO_0000149275;Note=Alpha-N-acetylgalactosaminide alpha-2%2C6-sialyltransferase 3 |
Q8NDV1 | 208 | 243 | 80 | 229 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q8NDV1 | 208 | 243 | 239 | 239 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8NDV1 | 208 | 243 | 223 | 223 | Natural variant | ID=VAR_055846;Note=L->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.4;Dbxref=dbSNP:rs1184626,PMID:15489334 |
Q8NDV1 | 208 | 243 | 29 | 305 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Lost protein functional features of individual exon skipping events in MSBB. |
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 |
Q8NDV1 | 208 | 243 | 208 | 210 | Alternative sequence | ID=VSP_013218;Note=In isoform 2. RVQ->STE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
Q8NDV1 | 208 | 243 | 211 | 305 | Alternative sequence | ID=VSP_013219;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
Q8NDV1 | 208 | 243 | 1 | 305 | Chain | ID=PRO_0000149275;Note=Alpha-N-acetylgalactosaminide alpha-2%2C6-sialyltransferase 3 |
Q8NDV1 | 208 | 243 | 80 | 229 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q8NDV1 | 208 | 243 | 239 | 239 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8NDV1 | 208 | 243 | 223 | 223 | Natural variant | ID=VAR_055846;Note=L->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.4;Dbxref=dbSNP:rs1184626,PMID:15489334 |
Q8NDV1 | 208 | 243 | 29 | 305 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Lost protein functional features of individual exon skipping events in Mayo. |
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 |
Q8NDV1 | 208 | 243 | 208 | 210 | Alternative sequence | ID=VSP_013218;Note=In isoform 2. RVQ->STE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
Q8NDV1 | 208 | 243 | 211 | 305 | Alternative sequence | ID=VSP_013219;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
Q8NDV1 | 208 | 243 | 1 | 305 | Chain | ID=PRO_0000149275;Note=Alpha-N-acetylgalactosaminide alpha-2%2C6-sialyltransferase 3 |
Q8NDV1 | 208 | 243 | 80 | 229 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q8NDV1 | 208 | 243 | 239 | 239 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8NDV1 | 208 | 243 | 223 | 223 | Natural variant | ID=VAR_055846;Note=L->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.4;Dbxref=dbSNP:rs1184626,PMID:15489334 |
Q8NDV1 | 208 | 243 | 29 | 305 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ST6GALNAC3 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for ST6GALNAC3 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- 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 |
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AD stage-associated exon skippint events for ST6GALNAC3 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ST6GALNAC3 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for ST6GALNAC3 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ST6GALNAC3 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ST6GALNAC3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |