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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for STT3A

check button Gene summary
Gene informationGene symbol

STT3A

Gene ID

3703

Gene nameSTT3A, catalytic subunit of the oligosaccharyltransferase complex
SynonymsITM1|STT3-A|TMC
Cytomap

11q24.2

Type of geneprotein-coding
Descriptiondolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3AB5STT3, subunit of the oligosaccharyltransferase complex, homolog ASTT3A, cataylic subunit of the oligosaccharyltransferase complexSTT3A, subunit of the oligosaccharyltransfer
Modification date20180522
UniProtAcc

P46977

ContextPubMed: STT3A [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for STT3A from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for STT3A

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for STT3A

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_6637311125462761:125462813:125463532:125463620:125465775:125465898125463532:125463620ENSG00000134910.8ENST00000529196.1
exon_skip_6637611125462761:125462813:125465775:125465898:125466953:125467014125465775:125465898ENSG00000134910.8ENST00000534472.1,ENST00000392708.4
exon_skip_6637811125462761:125462813:125466953:125467014:125472197:125472319125466953:125467014ENSG00000134910.8ENST00000531491.1
exon_skip_6638611125465775:125465898:125466953:125467014:125472197:125472319125466953:125467014ENSG00000134910.8ENST00000529886.1,ENST00000534472.1,ENST00000525652.1,ENST00000529196.1,ENST00000392708.4,ENST00000527606.1
exon_skip_6638711125472197:125472319:125472697:125472843:125474051:125474142125472697:125472843ENSG00000134910.8ENST00000531491.1,ENST00000534472.1,ENST00000529196.1,ENST00000392708.4
exon_skip_6638811125474051:125474142:125475523:125475630:125476195:125476360125475523:125475630ENSG00000134910.8ENST00000531491.1,ENST00000526213.1,ENST00000534472.1,ENST00000527456.1,ENST00000529196.1,ENST00000392708.4
exon_skip_6638911125478042:125478184:125479328:125479484:125481322:125481414125479328:125479484ENSG00000134910.8ENST00000531491.1,ENST00000529196.1,ENST00000392708.4
exon_skip_6639211125479328:125479484:125481322:125481414:125482486:125482642125481322:125481414ENSG00000134910.8ENST00000531491.1,ENST00000529196.1,ENST00000392708.4,ENST00000524639.1
exon_skip_6639411125479328:125479484:125482486:125482642:125482883:125482965125482486:125482642ENSG00000134910.8ENST00000526726.1
exon_skip_6639811125481322:125481414:125482486:125482642:125482883:125482965125482486:125482642ENSG00000134910.8ENST00000531491.1,ENST00000529196.1,ENST00000392708.4,ENST00000524639.1
exon_skip_6640011125482883:125483072:125483981:125484098:125484218:125484321125483981:125484098ENSG00000134910.8ENST00000531491.1,ENST00000529196.1,ENST00000392708.4
exon_skip_6640411125484218:125484321:125488267:125488456:125489905:125490021125488267:125488456ENSG00000134910.8ENST00000531491.1,ENST00000529196.1,ENST00000392708.4,ENST00000525946.1
exon_skip_6640711125489905:125490021:125491300:125491414:125494767:125495110125491300:125491414ENSG00000134910.8ENST00000526364.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for STT3A

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_6637311125462761:125462813:125463532:125463620:125465775:125465898125463532:125463620ENSG00000134910.8ENST00000529196.1
exon_skip_6637611125462761:125462813:125465775:125465898:125466953:125467014125465775:125465898ENSG00000134910.8ENST00000392708.4,ENST00000534472.1
exon_skip_6637811125462761:125462813:125466953:125467014:125472197:125472319125466953:125467014ENSG00000134910.8ENST00000531491.1
exon_skip_6638611125465775:125465898:125466953:125467014:125472197:125472319125466953:125467014ENSG00000134910.8ENST00000527606.1,ENST00000392708.4,ENST00000534472.1,ENST00000529196.1,ENST00000525652.1,ENST00000529886.1
exon_skip_6638711125472197:125472319:125472697:125472843:125474051:125474142125472697:125472843ENSG00000134910.8ENST00000392708.4,ENST00000534472.1,ENST00000529196.1,ENST00000531491.1
exon_skip_6638811125474051:125474142:125475523:125475630:125476195:125476360125475523:125475630ENSG00000134910.8ENST00000392708.4,ENST00000534472.1,ENST00000529196.1,ENST00000531491.1,ENST00000526213.1,ENST00000527456.1
exon_skip_6638911125478042:125478184:125479328:125479484:125481322:125481414125479328:125479484ENSG00000134910.8ENST00000392708.4,ENST00000529196.1,ENST00000531491.1
exon_skip_6639211125479328:125479484:125481322:125481414:125482486:125482642125481322:125481414ENSG00000134910.8ENST00000392708.4,ENST00000529196.1,ENST00000531491.1,ENST00000524639.1
exon_skip_6639411125479328:125479484:125482486:125482642:125482883:125482965125482486:125482642ENSG00000134910.8ENST00000526726.1
exon_skip_6639811125481322:125481414:125482486:125482642:125482883:125482965125482486:125482642ENSG00000134910.8ENST00000392708.4,ENST00000529196.1,ENST00000531491.1,ENST00000524639.1
exon_skip_6640011125482883:125483072:125483981:125484098:125484218:125484321125483981:125484098ENSG00000134910.8ENST00000392708.4,ENST00000529196.1,ENST00000531491.1
exon_skip_6640411125484218:125484321:125488267:125488456:125489905:125490021125488267:125488456ENSG00000134910.8ENST00000392708.4,ENST00000529196.1,ENST00000531491.1,ENST00000525946.1
exon_skip_6640711125489905:125490021:125491300:125491414:125494767:125495110125491300:125491414ENSG00000134910.8ENST00000526364.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for STT3A

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003927081254657751254658985CDS-5UTR
ENST000005291961254635321254636205UTR-5UTR
ENST00000392708125466953125467014Frame-shift
ENST00000529196125466953125467014Frame-shift
ENST00000392708125472697125472843Frame-shift
ENST00000529196125472697125472843Frame-shift
ENST00000392708125475523125475630Frame-shift
ENST00000529196125475523125475630Frame-shift
ENST00000392708125481322125481414Frame-shift
ENST00000529196125481322125481414Frame-shift
ENST00000392708125479328125479484In-frame
ENST00000529196125479328125479484In-frame
ENST00000392708125482486125482642In-frame
ENST00000529196125482486125482642In-frame
ENST00000392708125483981125484098In-frame
ENST00000529196125483981125484098In-frame
ENST00000392708125488267125488456In-frame
ENST00000529196125488267125488456In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003927081254657751254658985CDS-5UTR
ENST000005291961254635321254636205UTR-5UTR
ENST00000392708125466953125467014Frame-shift
ENST00000529196125466953125467014Frame-shift
ENST00000392708125472697125472843Frame-shift
ENST00000529196125472697125472843Frame-shift
ENST00000392708125475523125475630Frame-shift
ENST00000529196125475523125475630Frame-shift
ENST00000392708125481322125481414Frame-shift
ENST00000529196125481322125481414Frame-shift
ENST00000392708125479328125479484In-frame
ENST00000529196125479328125479484In-frame
ENST00000392708125482486125482642In-frame
ENST00000529196125482486125482642In-frame
ENST00000392708125483981125484098In-frame
ENST00000529196125483981125484098In-frame
ENST00000392708125488267125488456In-frame
ENST00000529196125488267125488456In-frame

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Infer the effects of exon skipping event on protein functional features for STT3A

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000392708457570512547932812547948411211276320372
ENST00000529196241970512547932812547948411681323320372
ENST00000392708457570512548248612548264213691524403455
ENST00000529196241970512548248612548264214161571403455
ENST00000392708457570512548398112548409817141830518557
ENST00000529196241970512548398112548409817611877518557
ENST00000392708457570512548826712548845619342122591654
ENST00000529196241970512548826712548845619812169591654

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000392708457570512547932812547948411211276320372
ENST00000529196241970512547932812547948411681323320372
ENST00000392708457570512548248612548264213691524403455
ENST00000529196241970512548248612548264214161571403455
ENST00000392708457570512548398112548409817141830518557
ENST00000529196241970512548398112548409817611877518557
ENST00000392708457570512548826712548845619342122591654
ENST00000529196241970512548826712548845619812169591654

check button 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 featureDescription of feature
P46977320372351351Binding siteNote=Target acceptor peptide;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P46977320372351351Binding siteNote=Target acceptor peptide;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P469773203721705ChainID=PRO_0000072290;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
P469773203721705ChainID=PRO_0000072290;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
P46977320372348351MotifNote=SVSE motif;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q5HTX9
P46977320372348351MotifNote=SVSE motif;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q5HTX9
P46977320372322356Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977320372322356Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977320372301321TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P46977320372301321TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P46977320372357379TransmembraneNote=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977320372357379TransmembraneNote=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977403455405405Binding siteNote=Lipid-linked oligosaccharide;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P46977403455405405Binding siteNote=Lipid-linked oligosaccharide;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P469774034551705ChainID=PRO_0000072290;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
P469774034551705ChainID=PRO_0000072290;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
P46977403455415415Sequence conflictNote=C->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977403455415415Sequence conflictNote=C->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977403455454454Sequence conflictNote=N->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977403455454454Sequence conflictNote=N->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977403455403406Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977403455403406Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977403455429453Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977403455429453Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977403455407428TransmembraneNote=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977403455407428TransmembraneNote=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977403455454473TransmembraneNote=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977403455454473TransmembraneNote=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977518557530530Binding siteNote=Lipid-linked oligosaccharide;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P46977518557530530Binding siteNote=Lipid-linked oligosaccharide;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P469775185571705ChainID=PRO_0000072290;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
P469775185571705ChainID=PRO_0000072290;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
P46977518557537537GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218
P46977518557537537GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218
P46977518557544544GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218
P46977518557544544GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218
P46977518557548548GlycosylationNote=N-linked (GlcNAc...) (high mannose) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218
P46977518557548548GlycosylationNote=N-linked (GlcNAc...) (high mannose) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218
P46977518557525529MotifNote=WWDYG motif;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977518557525529MotifNote=WWDYG motif;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977518557525527RegionNote=Target acceptor peptide binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P46977518557525527RegionNote=Target acceptor peptide binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P46977518557474705Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977518557474705Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977591654595595Binding siteNote=Target acceptor peptide;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P46977591654595595Binding siteNote=Target acceptor peptide;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P469775916541705ChainID=PRO_0000072290;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
P469775916541705ChainID=PRO_0000072290;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
P46977591654592599MotifNote=DK motif;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977591654592599MotifNote=DK motif;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977591654626626Natural variantID=VAR_070944;Note=In CDG1W%3B affects activity resulting in hypoglycosylation of STT3A-specific substrates. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23842455;Dbxref=dbSNP:rs587777216,PMID:23842455
P46977591654626626Natural variantID=VAR_070944;Note=In CDG1W%3B affects activity resulting in hypoglycosylation of STT3A-specific substrates. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23842455;Dbxref=dbSNP:rs587777216,PMID:23842455
P46977591654474705Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977591654474705Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305


check button 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 featureDescription of feature
P46977320372351351Binding siteNote=Target acceptor peptide;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P46977320372351351Binding siteNote=Target acceptor peptide;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P469773203721705ChainID=PRO_0000072290;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
P469773203721705ChainID=PRO_0000072290;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
P46977320372348351MotifNote=SVSE motif;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q5HTX9
P46977320372348351MotifNote=SVSE motif;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q5HTX9
P46977320372322356Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977320372322356Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977320372301321TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P46977320372301321TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P46977320372357379TransmembraneNote=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977320372357379TransmembraneNote=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977403455405405Binding siteNote=Lipid-linked oligosaccharide;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P46977403455405405Binding siteNote=Lipid-linked oligosaccharide;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P469774034551705ChainID=PRO_0000072290;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
P469774034551705ChainID=PRO_0000072290;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
P46977403455415415Sequence conflictNote=C->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977403455415415Sequence conflictNote=C->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977403455454454Sequence conflictNote=N->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977403455454454Sequence conflictNote=N->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977403455403406Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977403455403406Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977403455429453Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977403455429453Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977403455407428TransmembraneNote=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977403455407428TransmembraneNote=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977403455454473TransmembraneNote=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977403455454473TransmembraneNote=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977518557530530Binding siteNote=Lipid-linked oligosaccharide;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P46977518557530530Binding siteNote=Lipid-linked oligosaccharide;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P469775185571705ChainID=PRO_0000072290;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
P469775185571705ChainID=PRO_0000072290;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
P46977518557537537GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218
P46977518557537537GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218
P46977518557544544GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218
P46977518557544544GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218
P46977518557548548GlycosylationNote=N-linked (GlcNAc...) (high mannose) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218
P46977518557548548GlycosylationNote=N-linked (GlcNAc...) (high mannose) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218
P46977518557525529MotifNote=WWDYG motif;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977518557525529MotifNote=WWDYG motif;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977518557525527RegionNote=Target acceptor peptide binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P46977518557525527RegionNote=Target acceptor peptide binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P46977518557474705Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977518557474705Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977591654595595Binding siteNote=Target acceptor peptide;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P46977591654595595Binding siteNote=Target acceptor peptide;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B9KDD4
P469775916541705ChainID=PRO_0000072290;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
P469775916541705ChainID=PRO_0000072290;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
P46977591654592599MotifNote=DK motif;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977591654592599MotifNote=DK motif;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P39007
P46977591654626626Natural variantID=VAR_070944;Note=In CDG1W%3B affects activity resulting in hypoglycosylation of STT3A-specific substrates. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23842455;Dbxref=dbSNP:rs587777216,PMID:23842455
P46977591654626626Natural variantID=VAR_070944;Note=In CDG1W%3B affects activity resulting in hypoglycosylation of STT3A-specific substrates. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23842455;Dbxref=dbSNP:rs587777216,PMID:23842455
P46977591654474705Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305
P46977591654474705Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305


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SNVs in the skipped exons for STT3A

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
STT3A_LIHC_exon_skip_66376_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-G3-A3CJ-01exon_skip_66376
125465776125465898125465826125465826Frame_Shift_DelT-p.F6fs
LIHCTCGA-DD-A1EG-01exon_skip_66376
125465776125465898125465860125465860Frame_Shift_DelT-p.L18fs
LIHCTCGA-DD-A3A0-01exon_skip_66387
125472698125472843125472738125472738Frame_Shift_DelT-p.H104fs
LIHCTCGA-DD-A1EG-01exon_skip_66404
125488268125488456125488344125488344Frame_Shift_DelT-p.Y618fs
KIRCTCGA-B0-5709-01exon_skip_66389
125479329125479484125479362125479362Nonsense_MutationCAp.S332X
COADTCGA-AA-A01Q-01exon_skip_66400
125483982125484098125484067125484067Nonsense_MutationGAp.W547X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
STT3A_125462761_125462813_125465775_125465898_125466953_125467014_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_66376
Skipped exon start: 125465776
Skipped exon end: 125465898
Mutation start: 125465860
Mutation end: 125465860
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.L18fs
STT3A_125462761_125462813_125465775_125465898_125466953_125467014_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_66404
Skipped exon start: 125488268
Skipped exon end: 125488456
Mutation start: 125488344
Mutation end: 125488344
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.Y618fs
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check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
BICR18_UPPER_AERODIGESTIVE_TRACT125465776125465898125465820125465820Missense_MutationTCp.F4L
BICR10_UPPER_AERODIGESTIVE_TRACT125472698125472843125472705125472705Missense_MutationGAp.M93I
C33A_CERVIX125472698125472843125472773125472773Missense_MutationGCp.C116S
HS940T_FIBROBLAST125475524125475630125475545125475545Missense_MutationTCp.L177P
CAL148_BREAST125479329125479484125479479125479479Missense_MutationTGp.F371C
HS822T_FIBROBLAST125481323125481414125481376125481376Missense_MutationAGp.M391V
SNU1040_LARGE_INTESTINE125481323125481414125481403125481403Missense_MutationTCp.S400P
NCIH2286_LUNG125482487125482642125482640125482640Missense_MutationGAp.E455K
MDAMB231_BREAST125483982125484098125483994125483994Missense_MutationATp.M523L
SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE125483982125484098125484007125484007Missense_MutationAGp.D527G
NY_BONE125483982125484098125484036125484036Missense_MutationAGp.N537D
MZ7MEL_SKIN125488268125488456125488301125488301Missense_MutationGAp.G603E
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE125488268125488456125488430125488430Missense_MutationGAp.R646H
HEC59_ENDOMETRIUM125465776125465898125465832125465832Nonsense_MutationCTp.R8*
LNCAPCLONEFGC_PROSTATE125483982125484098125484002125484002Nonsense_MutationGAp.W525*
BT474_BREAST125483982125484098125484018125484018Nonsense_MutationCTp.Q531*
BICR18_UPPER_AERODIGESTIVE_TRACT125482487125482642125482642125482642Splice_SiteAGp.E455E

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STT3A

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_6640411125484218:125484321:125488267:125488456:125489905:125490021125488267:125488456ENST00000531491.1,ENST00000529196.1,ENST00000392708.4,ENST00000525946.1GBMrs17140116chr11:125488404C/T4.48e-04
exon_skip_6640411125484218:125484321:125488267:125488456:125489905:125490021125488267:125488456ENST00000531491.1,ENST00000529196.1,ENST00000392708.4,ENST00000525946.1COADrs17140116chr11:125488404C/T1.95e-06
exon_skip_6640411125484218:125484321:125488267:125488456:125489905:125490021125488267:125488456ENST00000531491.1,ENST00000529196.1,ENST00000392708.4,ENST00000525946.1HNSCrs17140116chr11:125488404C/T1.02e-07
exon_skip_6640411125484218:125484321:125488267:125488456:125489905:125490021125488267:125488456ENST00000531491.1,ENST00000529196.1,ENST00000392708.4,ENST00000525946.1LGGrs17140116chr11:125488404C/T1.07e-07
exon_skip_6640411125484218:125484321:125488267:125488456:125489905:125490021125488267:125488456ENST00000531491.1,ENST00000529196.1,ENST00000392708.4,ENST00000525946.1KIRCrs17140116chr11:125488404C/T1.85e-09
exon_skip_6640411125484218:125484321:125488267:125488456:125489905:125490021125488267:125488456ENST00000531491.1,ENST00000529196.1,ENST00000392708.4,ENST00000525946.1LUADrs17140116chr11:125488404C/T2.79e-06
exon_skip_6640411125484218:125484321:125488267:125488456:125489905:125490021125488267:125488456ENST00000531491.1,ENST00000529196.1,ENST00000392708.4,ENST00000525946.1LUSCrs17140116chr11:125488404C/T7.21e-07
exon_skip_6640411125484218:125484321:125488267:125488456:125489905:125490021125488267:125488456ENST00000531491.1,ENST00000529196.1,ENST00000392708.4,ENST00000525946.1PRADrs17140116chr11:125488404C/T2.19e-03
exon_skip_6640411125484218:125484321:125488267:125488456:125489905:125490021125488267:125488456ENST00000531491.1,ENST00000529196.1,ENST00000392708.4,ENST00000525946.1PRADrs17140116chr11:125488404C/T3.03e-03
exon_skip_6640411125484218:125484321:125488267:125488456:125489905:125490021125488267:125488456ENST00000531491.1,ENST00000529196.1,ENST00000392708.4,ENST00000525946.1STADrs17140116chr11:125488404C/T3.97e-04
exon_skip_6640411125484218:125484321:125488267:125488456:125489905:125490021125488267:125488456ENST00000531491.1,ENST00000529196.1,ENST00000392708.4,ENST00000525946.1THCArs17140116chr11:125488404C/T1.98e-03
exon_skip_6640411125484218:125484321:125488267:125488456:125489905:125490021125488267:125488456ENST00000531491.1,ENST00000529196.1,ENST00000392708.4,ENST00000525946.1UCECrs17140116chr11:125488404C/T3.52e-04
exon_skip_6637611125462761:125462813:125465775:125465898:125466953:125467014125465775:125465898ENST00000534472.1,ENST00000392708.4GBMrs10082632chr11:125465862T/C4.57e-04
exon_skip_6637611125462761:125462813:125465775:125465898:125466953:125467014125465775:125465898ENST00000534472.1,ENST00000392708.4COADrs10082632chr11:125465862T/C1.35e-06
exon_skip_6637611125462761:125462813:125465775:125465898:125466953:125467014125465775:125465898ENST00000534472.1,ENST00000392708.4HNSCrs10082632chr11:125465862T/C8.51e-07
exon_skip_6637611125462761:125462813:125465775:125465898:125466953:125467014125465775:125465898ENST00000534472.1,ENST00000392708.4LGGrs10082632chr11:125465862T/C3.96e-08
exon_skip_6637611125462761:125462813:125465775:125465898:125466953:125467014125465775:125465898ENST00000534472.1,ENST00000392708.4KIRCrs10082632chr11:125465862T/C1.12e-08
exon_skip_6637611125462761:125462813:125465775:125465898:125466953:125467014125465775:125465898ENST00000534472.1,ENST00000392708.4LUADrs10082632chr11:125465862T/C4.22e-07
exon_skip_6637611125462761:125462813:125465775:125465898:125466953:125467014125465775:125465898ENST00000534472.1,ENST00000392708.4LUSCrs10082632chr11:125465862T/C7.30e-07
exon_skip_6637611125462761:125462813:125465775:125465898:125466953:125467014125465775:125465898ENST00000534472.1,ENST00000392708.4OVrs10082632chr11:125465862T/C5.57e-07
exon_skip_6637611125462761:125462813:125465775:125465898:125466953:125467014125465775:125465898ENST00000534472.1,ENST00000392708.4PRADrs10082632chr11:125465862T/C1.11e-03
exon_skip_6637611125462761:125462813:125465775:125465898:125466953:125467014125465775:125465898ENST00000534472.1,ENST00000392708.4STADrs10082632chr11:125465862T/C2.85e-04
exon_skip_6637611125462761:125462813:125465775:125465898:125466953:125467014125465775:125465898ENST00000534472.1,ENST00000392708.4THCArs10082632chr11:125465862T/C1.11e-03
exon_skip_6637611125462761:125462813:125465775:125465898:125466953:125467014125465775:125465898ENST00000534472.1,ENST00000392708.4UCECrs10082632chr11:125465862T/C5.16e-06
exon_skip_6638911125478042:125478184:125479328:125479484:125481322:125481414125479328:125479484ENST00000531491.1,ENST00000529196.1,ENST00000392708.4GBMrs2241502chr11:125479363G/A1.72e-05
exon_skip_6638911125478042:125478184:125479328:125479484:125481322:125481414125479328:125479484ENST00000531491.1,ENST00000529196.1,ENST00000392708.4COADrs2241502chr11:125479363G/A1.52e-04
exon_skip_6638911125478042:125478184:125479328:125479484:125481322:125481414125479328:125479484ENST00000531491.1,ENST00000529196.1,ENST00000392708.4HNSCrs2241502chr11:125479363G/A9.69e-05
exon_skip_6638911125478042:125478184:125479328:125479484:125481322:125481414125479328:125479484ENST00000531491.1,ENST00000529196.1,ENST00000392708.4LGGrs2241502chr11:125479363G/A7.59e-09
exon_skip_6638911125478042:125478184:125479328:125479484:125481322:125481414125479328:125479484ENST00000531491.1,ENST00000529196.1,ENST00000392708.4KIRCrs2241502chr11:125479363G/A6.05e-08
exon_skip_6638911125478042:125478184:125479328:125479484:125481322:125481414125479328:125479484ENST00000531491.1,ENST00000529196.1,ENST00000392708.4LUADrs2241502chr11:125479363G/A2.03e-07
exon_skip_6638911125478042:125478184:125479328:125479484:125481322:125481414125479328:125479484ENST00000531491.1,ENST00000529196.1,ENST00000392708.4LUSCrs2241502chr11:125479363G/A2.69e-09
exon_skip_6638911125478042:125478184:125479328:125479484:125481322:125481414125479328:125479484ENST00000531491.1,ENST00000529196.1,ENST00000392708.4PRADrs2241502chr11:125479363G/A4.16e-06
exon_skip_6638911125478042:125478184:125479328:125479484:125481322:125481414125479328:125479484ENST00000531491.1,ENST00000529196.1,ENST00000392708.4SARCrs2241502chr11:125479363G/A3.16e-04
exon_skip_6638911125478042:125478184:125479328:125479484:125481322:125481414125479328:125479484ENST00000531491.1,ENST00000529196.1,ENST00000392708.4STADrs2241502chr11:125479363G/A1.60e-05
exon_skip_6638911125478042:125478184:125479328:125479484:125481322:125481414125479328:125479484ENST00000531491.1,ENST00000529196.1,ENST00000392708.4THCArs2241502chr11:125479363G/A3.00e-06
exon_skip_6638911125478042:125478184:125479328:125479484:125481322:125481414125479328:125479484ENST00000531491.1,ENST00000529196.1,ENST00000392708.4UCECrs2241502chr11:125479363G/A3.13e-06

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STT3A


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STT3A


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RelatedDrugs for STT3A

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for STT3A

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
STT3AC3810062CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw1ORPHANET;UNIPROT