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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 SEC63

check button Gene summary
Gene informationGene symbol

SEC63

Gene ID

11231

Gene nameSEC63 homolog, protein translocation regulator
SynonymsDNAJC23|ERdj2|PCLD2|PRO2507|SEC63L
Cytomap

6q21

Type of geneprotein-coding
Descriptiontranslocation protein SEC63 homologSEC63 protein translocation regulatorSEC63-like protein
Modification date20180523
UniProtAcc

Q9UGP8

ContextPubMed: SEC63 [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 SEC63 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 SEC63

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 SEC63

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4615016108194088:108194116:108197767:108197866:108202352:108202454108197767:108197866ENSG00000025796.9ENST00000473746.1,ENST00000369002.4
exon_skip_4615046108197767:108197866:108202352:108202454:108204191:108204316108202352:108202454ENSG00000025796.9ENST00000473746.1,ENST00000369002.4
exon_skip_4615076108202352:108202454:108204191:108204350:108214685:108214859108204191:108204350ENSG00000025796.9ENST00000369002.4
exon_skip_4615126108204191:108204350:108214685:108214859:108215041:108215101108214685:108214859ENSG00000025796.9ENST00000369002.4
exon_skip_4615136108215041:108215101:108218852:108218935:108222573:108222721108218852:108218935ENSG00000025796.9ENST00000466419.1,ENST00000369002.4
exon_skip_4615156108230211:108230239:108232549:108232600:108233919:108233978108232549:108232600ENSG00000025796.9ENST00000429168.1,ENST00000369002.4
exon_skip_4615196108243000:108243113:108246021:108246136:108250618:108250718108246021:108246136ENSG00000025796.9ENST00000484803.1,ENST00000429168.1,ENST00000369002.4
exon_skip_4615226108246021:108246136:108250618:108250718:108279089:108279135108250618:108250718ENSG00000025796.9ENST00000484803.1
exon_skip_4615246108250618:108250718:108277168:108277310:108279089:108279135108277168:108277310ENSG00000025796.9ENST00000446496.1

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

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Exon skipping events with PSIs in GTEx for SEC63

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4615016108194088:108194116:108197767:108197866:108202352:108202454108197767:108197866ENSG00000025796.9ENST00000369002.4,ENST00000473746.1
exon_skip_4615046108197767:108197866:108202352:108202454:108204191:108204316108202352:108202454ENSG00000025796.9ENST00000369002.4,ENST00000473746.1
exon_skip_4615076108202352:108202454:108204191:108204350:108214685:108214859108204191:108204350ENSG00000025796.9ENST00000369002.4
exon_skip_4615126108204191:108204350:108214685:108214859:108215041:108215101108214685:108214859ENSG00000025796.9ENST00000369002.4
exon_skip_4615136108215041:108215101:108218852:108218935:108222573:108222721108218852:108218935ENSG00000025796.9ENST00000369002.4,ENST00000466419.1
exon_skip_4615156108230211:108230239:108232549:108232600:108233919:108233978108232549:108232600ENSG00000025796.9ENST00000369002.4,ENST00000429168.1
exon_skip_4615196108243000:108243113:108246021:108246136:108250618:108250718108246021:108246136ENSG00000025796.9ENST00000369002.4,ENST00000429168.1,ENST00000484803.1
exon_skip_4615226108246021:108246136:108250618:108250718:108279089:108279135108250618:108250718ENSG00000025796.9ENST00000484803.1
exon_skip_4615246108250618:108250718:108277168:108277310:108279089:108279135108277168:108277310ENSG00000025796.9ENST00000446496.1

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 SEC63

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
ENST00000369002108218852108218935Frame-shift
ENST00000369002108246021108246136Frame-shift
ENST00000369002108197767108197866In-frame
ENST00000369002108202352108202454In-frame
ENST00000369002108204191108204350In-frame
ENST00000369002108214685108214859In-frame
ENST00000369002108232549108232600In-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
ENST00000369002108218852108218935Frame-shift
ENST00000369002108246021108246136Frame-shift
ENST00000369002108197767108197866In-frame
ENST00000369002108202352108202454In-frame
ENST00000369002108204191108204350In-frame
ENST00000369002108214685108214859In-frame
ENST00000369002108232549108232600In-frame

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Infer the effects of exon skipping event on protein functional features for SEC63

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
ENST000003690026428760108232549108232600754804191208
ENST00000369002642876010821468510821485916811854500558
ENST00000369002642876010820419110820435018552013558611
ENST00000369002642876010820235210820245420142115611645
ENST00000369002642876010819776710819786621162214645678

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
ENST000003690026428760108232549108232600754804191208
ENST00000369002642876010821468510821485916811854500558
ENST00000369002642876010820419110820435018552013558611
ENST00000369002642876010820235210820245420142115611645
ENST00000369002642876010819776710819786621162214645678

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
Q9UGP81912081760ChainID=PRO_0000071097;Note=Translocation protein SEC63 homolog
Q9UGP8191208197541DomainNote=SEC63 1
Q9UGP81912087760Natural variantID=VAR_080944;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP819120858760Natural variantID=VAR_080945;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP819120898760Natural variantID=VAR_080946;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8191208189209TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UGP85005581760ChainID=PRO_0000071097;Note=Translocation protein SEC63 homolog
Q9UGP8500558197541DomainNote=SEC63 1
Q9UGP8500558537537Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q9UGP85005587760Natural variantID=VAR_080944;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP850055858760Natural variantID=VAR_080945;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP850055898760Natural variantID=VAR_080946;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8500558233760Natural variantID=VAR_080947;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8500558239760Natural variantID=VAR_080948;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8500558297760Natural variantID=VAR_080949;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8500558417760Natural variantID=VAR_080950;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8500558550760Natural variantID=VAR_080951;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8500558556556Natural variantID=VAR_061146;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14574404;Dbxref=dbSNP:rs17854547,PMID:14574404
Q9UGP8500558210760Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UGP85586111760ChainID=PRO_0000071097;Note=Translocation protein SEC63 homolog
Q9UGP8558611597635Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9UGP85586117760Natural variantID=VAR_080944;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP855861158760Natural variantID=VAR_080945;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP855861198760Natural variantID=VAR_080946;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8558611233760Natural variantID=VAR_080947;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8558611239760Natural variantID=VAR_080948;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8558611297760Natural variantID=VAR_080949;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8558611417760Natural variantID=VAR_080950;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8558611550760Natural variantID=VAR_080951;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8558611568568Natural variantID=VAR_019645;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15133510;Dbxref=PMID:15133510
Q9UGP8558611601760Natural variantID=VAR_080952;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8558611210760Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UGP86116451760ChainID=PRO_0000071097;Note=Translocation protein SEC63 homolog
Q9UGP8611645597635Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9UGP8611645637714DomainNote=SEC63 2
Q9UGP86116457760Natural variantID=VAR_080944;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP861164558760Natural variantID=VAR_080945;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP861164598760Natural variantID=VAR_080946;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8611645233760Natural variantID=VAR_080947;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8611645239760Natural variantID=VAR_080948;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8611645297760Natural variantID=VAR_080949;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8611645417760Natural variantID=VAR_080950;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8611645550760Natural variantID=VAR_080951;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8611645601760Natural variantID=VAR_080952;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8611645210760Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UGP86456781760ChainID=PRO_0000071097;Note=Translocation protein SEC63 homolog
Q9UGP8645678637714DomainNote=SEC63 2
Q9UGP86456787760Natural variantID=VAR_080944;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP864567858760Natural variantID=VAR_080945;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP864567898760Natural variantID=VAR_080946;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8645678233760Natural variantID=VAR_080947;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8645678239760Natural variantID=VAR_080948;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8645678297760Natural variantID=VAR_080949;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8645678417760Natural variantID=VAR_080950;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8645678550760Natural variantID=VAR_080951;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8645678601760Natural variantID=VAR_080952;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8645678210760Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255


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
Q9UGP81912081760ChainID=PRO_0000071097;Note=Translocation protein SEC63 homolog
Q9UGP8191208197541DomainNote=SEC63 1
Q9UGP81912087760Natural variantID=VAR_080944;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP819120858760Natural variantID=VAR_080945;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP819120898760Natural variantID=VAR_080946;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8191208189209TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UGP85005581760ChainID=PRO_0000071097;Note=Translocation protein SEC63 homolog
Q9UGP8500558197541DomainNote=SEC63 1
Q9UGP8500558537537Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q9UGP85005587760Natural variantID=VAR_080944;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP850055858760Natural variantID=VAR_080945;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP850055898760Natural variantID=VAR_080946;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8500558233760Natural variantID=VAR_080947;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8500558239760Natural variantID=VAR_080948;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8500558297760Natural variantID=VAR_080949;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8500558417760Natural variantID=VAR_080950;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8500558550760Natural variantID=VAR_080951;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8500558556556Natural variantID=VAR_061146;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14574404;Dbxref=dbSNP:rs17854547,PMID:14574404
Q9UGP8500558210760Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UGP85586111760ChainID=PRO_0000071097;Note=Translocation protein SEC63 homolog
Q9UGP8558611597635Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9UGP85586117760Natural variantID=VAR_080944;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP855861158760Natural variantID=VAR_080945;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP855861198760Natural variantID=VAR_080946;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8558611233760Natural variantID=VAR_080947;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8558611239760Natural variantID=VAR_080948;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8558611297760Natural variantID=VAR_080949;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8558611417760Natural variantID=VAR_080950;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8558611550760Natural variantID=VAR_080951;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8558611568568Natural variantID=VAR_019645;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15133510;Dbxref=PMID:15133510
Q9UGP8558611601760Natural variantID=VAR_080952;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8558611210760Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UGP86116451760ChainID=PRO_0000071097;Note=Translocation protein SEC63 homolog
Q9UGP8611645597635Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9UGP8611645637714DomainNote=SEC63 2
Q9UGP86116457760Natural variantID=VAR_080944;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP861164558760Natural variantID=VAR_080945;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP861164598760Natural variantID=VAR_080946;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8611645233760Natural variantID=VAR_080947;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8611645239760Natural variantID=VAR_080948;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8611645297760Natural variantID=VAR_080949;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8611645417760Natural variantID=VAR_080950;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8611645550760Natural variantID=VAR_080951;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8611645601760Natural variantID=VAR_080952;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8611645210760Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UGP86456781760ChainID=PRO_0000071097;Note=Translocation protein SEC63 homolog
Q9UGP8645678637714DomainNote=SEC63 2
Q9UGP86456787760Natural variantID=VAR_080944;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP864567858760Natural variantID=VAR_080945;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP864567898760Natural variantID=VAR_080946;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8645678233760Natural variantID=VAR_080947;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8645678239760Natural variantID=VAR_080948;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8645678297760Natural variantID=VAR_080949;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8645678417760Natural variantID=VAR_080950;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8645678550760Natural variantID=VAR_080951;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8645678601760Natural variantID=VAR_080952;Note=In PCLD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28375157;Dbxref=PMID:28375157
Q9UGP8645678210760Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for SEC63

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.
SEC63_ESCA_exon_skip_461515_psi_boxplot.png
boxplot
SEC63_ESCA_exon_skip_461524_psi_boxplot.png
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check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A39Y-01exon_skip_461512
108214686108214859108214702108214702Frame_Shift_DelT-p.N553fs
LIHCTCGA-CC-5259-01exon_skip_461512
108214686108214859108214755108214755Frame_Shift_DelT-p.K535fs
THYMTCGA-ZB-A966-01exon_skip_461512
108214686108214859108214755108214756Frame_Shift_DelTT-p.535_536del
THYMTCGA-ZB-A966-01exon_skip_461512
108214686108214859108214755108214756Frame_Shift_DelTT-p.K535fs
COADTCGA-AA-3663-01exon_skip_461512
108214686108214859108214765108214765Frame_Shift_DelA-p.L532fs
BLCATCGA-UY-A9PD-01exon_skip_461512
108214686108214859108214774108214774Frame_Shift_DelT-p.K530fs
LGGTCGA-HT-7606-01exon_skip_461512
108214686108214859108214774108214774Frame_Shift_DelT-p.K530fs
LIHCTCGA-DD-A73B-01exon_skip_461512
108214686108214859108214774108214774Frame_Shift_DelT-p.K530fs
LUADTCGA-97-8179-01exon_skip_461512
108214686108214859108214774108214774Frame_Shift_DelT-p.K530fs
PRADTCGA-KK-A8IM-01exon_skip_461512
108214686108214859108214774108214774Frame_Shift_DelT-p.K530fs
STADTCGA-MX-A5UJ-01exon_skip_461512
108214686108214859108214774108214774Frame_Shift_DelT-p.K530fs
LIHCTCGA-BC-A112-01exon_skip_461501
108197768108197866108197860108197861Frame_Shift_Ins-Tp.R648fs
ESCATCGA-L5-A4OI-01exon_skip_461524
108277169108277310108277241108277242Frame_Shift_Ins-Gp.R65fs
BLCATCGA-XF-A9SY-01exon_skip_461507
108204192108204350108204218108204218Nonsense_MutationCAp.E603*
BLCATCGA-BT-A3PH-01exon_skip_461512
108214686108214859108214765108214765Nonsense_MutationATp.L532*
CHOLTCGA-ZU-A8S4-01exon_skip_461512
108214686108214859108214765108214765Nonsense_MutationATp.L532*
LIHCTCGA-DD-A4NV-01exon_skip_461512
108214686108214859108214765108214765Nonsense_MutationATp.L532*
LIHCTCGA-DD-A73A-01exon_skip_461512
108214686108214859108214765108214765Nonsense_MutationATp.L532X
LIHCTCGA-DD-AADI-01exon_skip_461512
108214686108214859108214765108214765Nonsense_MutationATp.L532X
LIHCTCGA-KR-A7K2-01exon_skip_461512
108214686108214859108214765108214765Nonsense_MutationATp.L532*
SARCTCGA-3B-A9HL-01exon_skip_461512
108214686108214859108214765108214765Nonsense_MutationATp.L532*
SARCTCGA-DX-AB37-01exon_skip_461512
108214686108214859108214765108214765Nonsense_MutationATp.L532*
SARCTCGA-VT-A80J-02exon_skip_461512
108214686108214859108214765108214765Nonsense_MutationATp.L532*
SKCMTCGA-WE-AA9Y-06exon_skip_461512
108214686108214859108214765108214765Nonsense_MutationATp.L532*
TGCTTCGA-2G-AAFH-01exon_skip_461512
108214686108214859108214765108214765Nonsense_MutationATp.L532*
TGCTTCGA-2G-AAH4-01exon_skip_461512
108214686108214859108214765108214765Nonsense_MutationATp.L532*
TGCTTCGA-2G-AALS-01exon_skip_461512
108214686108214859108214765108214765Nonsense_MutationATp.L532*
TGCTTCGA-VF-A8AC-01exon_skip_461512
108214686108214859108214765108214765Nonsense_MutationATp.L532*
UCECTCGA-BS-A0TC-01exon_skip_461512
108214686108214859108214773108214773Nonsense_MutationCAp.E389*
TGCTTCGA-VF-A8AD-01exon_skip_461512
108214686108214859108214783108214783Nonsense_MutationGCp.S526*
TGCTTCGA-VF-A8AD-01exon_skip_461512
108214686108214859108214783108214783Nonsense_MutationGCp.S526X
ESCATCGA-V5-A7RC-01exon_skip_461515
108232550108232600108232548108232548Splice_SiteAC.
ESCATCGA-V5-A7RC-01exon_skip_461515
108232550108232600108232548108232548Splice_SiteACe7+2

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
SEC63_108250618_108250718_108277168_108277310_108279089_108279135_TCGA-L5-A4OI-01Sample: TCGA-L5-A4OI-01
Cancer type: ESCA
ESID: exon_skip_461524
Skipped exon start: 108277169
Skipped exon end: 108277310
Mutation start: 108277241
Mutation end: 108277242
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: G
AAchange: p.R65fs
exon_skip_112640_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_112965_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_122690_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_129706_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_135696_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_135704_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_135820_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_147024_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_149455_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_307491_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_308211_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_308974_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_309972_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_311841_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_328488_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_349475_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_352933_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_374468_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_374469_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_386802_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_423582_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_428975_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_434375_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_439047_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_439048_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_441654_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_443160_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_443161_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_457940_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_461524_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_470470_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_470694_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_474097_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_477308_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_487634_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_495456_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_502537_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_506535_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_55351_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_77217_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_91288_ESCA_TCGA-L5-A4OI-01.png
boxplot
SEC63_108230211_108230239_108232549_108232600_108233919_108233978_TCGA-V5-A7RC-01Sample: TCGA-V5-A7RC-01
Cancer type: ESCA
ESID: exon_skip_461515
Skipped exon start: 108232550
Skipped exon end: 108232600
Mutation start: 108232548
Mutation end: 108232548
Mutation type: Splice_Site
Reference seq: A
Mutation seq: C
AAchange: .
SEC63_108230211_108230239_108232549_108232600_108233919_108233978_TCGA-V5-A7RC-01Sample: TCGA-V5-A7RC-01
Cancer type: ESCA
ESID: exon_skip_461515
Skipped exon start: 108232550
Skipped exon end: 108232600
Mutation start: 108232548
Mutation end: 108232548
Mutation type: Splice_Site
Reference seq: A
Mutation seq: C
AAchange: e7+2
exon_skip_24581_ESCA_TCGA-V5-A7RC-01.png
boxplot
exon_skip_24584_ESCA_TCGA-V5-A7RC-01.png
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exon_skip_461515_ESCA_TCGA-V5-A7RC-01.png
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exon_skip_93891_ESCA_TCGA-V5-A7RC-01.png
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exon_skip_93913_ESCA_TCGA-V5-A7RC-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
AN3CA_ENDOMETRIUM108214686108214859108214755108214756Frame_Shift_DelTT-p.K535fs
SNUC5_LARGE_INTESTINE108214686108214859108214755108214756Frame_Shift_DelTT-p.K535fs
SNU520_STOMACH108214686108214859108214755108214756Frame_Shift_DelTT-p.K535fs
SNU520_STOMACH108214686108214859108214756108214756Frame_Shift_DelT-p.K535fs
22RV1_PROSTATE108214686108214859108214774108214775Frame_Shift_DelTT-p.K530fs
HEC151_ENDOMETRIUM108214686108214859108214774108214775Frame_Shift_DelTT-p.K530fs
RKO_LARGE_INTESTINE108214686108214859108214755108214756Frame_Shift_Ins-Tp.K535fs
SISO_CERVIX108197768108197866108197813108197813Missense_MutationTAp.L663F
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE108197768108197866108197813108197813Missense_MutationTAp.L663F
DJM1_SKIN108204192108204350108204332108204332Missense_MutationCGp.D565H
SW48_LARGE_INTESTINE108214686108214859108214764108214764Missense_MutationTAp.L532F
HEYA8_OVARY108218853108218935108218861108218861Missense_MutationTCp.T478A
HEY_OVARY108218853108218935108218861108218861Missense_MutationTCp.T478A
AGS_STOMACH108218853108218935108218875108218875Missense_MutationTCp.K473R
NCIH1155_LUNG108218853108218935108218905108218905Missense_MutationGAp.T463I
DBTRG05MG_CENTRAL_NERVOUS_SYSTEM108246022108246136108246101108246101Missense_MutationAGp.L87S
EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE108246022108246136108246103108246103Missense_MutationGTp.F86L
HEC251_ENDOMETRIUM108250619108250718108250692108250692Missense_MutationTCp.K51E
NCIH187_LUNG108250619108250718108250694108250694Missense_MutationCGp.R50T
SISO_CERVIX108250619108250718108250711108250711Missense_MutationACp.I44M
HT55_LARGE_INTESTINE108250619108250718108250710108250710Nonsense_MutationGAp.R45*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SEC63

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SEC63


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SEC63


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RelatedDrugs for SEC63

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 SEC63

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
SEC63C0022680Polycystic Kidney Diseases1CTD_human
SEC63C0158683Polycystic liver disease1CTD_human;HPO;ORPHANET