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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 SYTL4

check button Gene summary
Gene informationGene symbol

SYTL4

Gene ID

94121

Gene namesynaptotagmin like 4
SynonymsSLP4
Cytomap

Xq22.1

Type of geneprotein-coding
Descriptionsynaptotagmin-like protein 4exophilin-2granuphilin-a
Modification date20180523
UniProtAcc

Q96C24

ContextPubMed: SYTL4 [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 SYTL4 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 SYTL4

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 SYTL4

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_515950X99933387:99933596:99934309:99934409:99936223:9993633299934309:99934409ENSG00000102362.11ENST00000263033.5,ENST00000454200.2,ENST00000372989.1,ENST00000455616.1,ENST00000276141.6
exon_skip_515954X99936223:99936332:99940986:99941148:99941675:9994177899940986:99941148ENSG00000102362.11ENST00000263033.5,ENST00000454200.2,ENST00000372989.1,ENST00000455616.1,ENST00000276141.6
exon_skip_515955X99941675:99941778:99942063:99942242:99943347:9994344099942063:99942242ENSG00000102362.11ENST00000263033.5,ENST00000454200.2,ENST00000372989.1,ENST00000455616.1,ENST00000276141.6
exon_skip_515956X99945559:99945635:99946104:99946206:99955892:9995599599946104:99946206ENSG00000102362.11ENST00000263033.5,ENST00000372989.1,ENST00000372981.1,ENST00000455616.1,ENST00000276141.6
exon_skip_515959X99956923:99957103:99958088:99958181:99959806:9995988299958088:99958181ENSG00000102362.11ENST00000372989.1
exon_skip_515962X99956923:99957103:99959722:99959882:99986405:9998649899959722:99959882ENSG00000102362.11ENST00000455616.1

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

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Exon skipping events with PSIs in GTEx for SYTL4

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_515950X99933387:99933596:99934309:99934409:99936223:9993633299934309:99934409ENSG00000102362.11ENST00000372989.1,ENST00000455616.1,ENST00000454200.2,ENST00000276141.6,ENST00000263033.5
exon_skip_515954X99936223:99936332:99940986:99941148:99941675:9994177899940986:99941148ENSG00000102362.11ENST00000372989.1,ENST00000455616.1,ENST00000454200.2,ENST00000276141.6,ENST00000263033.5
exon_skip_515955X99941675:99941778:99942063:99942242:99943347:9994344099942063:99942242ENSG00000102362.11ENST00000372989.1,ENST00000455616.1,ENST00000454200.2,ENST00000276141.6,ENST00000263033.5
exon_skip_515956X99945559:99945635:99946104:99946206:99955892:9995599599946104:99946206ENSG00000102362.11ENST00000372989.1,ENST00000455616.1,ENST00000276141.6,ENST00000263033.5,ENST00000372981.1
exon_skip_515957X99945559:99945635:99946104:99946209:99955892:9995599599946104:99946209ENSG00000102362.11ENST00000454200.2
exon_skip_515959X99956923:99957103:99958088:99958181:99959806:9995988299958088:99958181ENSG00000102362.11ENST00000372989.1
exon_skip_515962X99956923:99957103:99959722:99959882:99986405:9998649899959722:99959882ENSG00000102362.11ENST00000455616.1

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 SYTL4

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
ENST0000037298999958088999581813UTR-3UTR
ENST000002630339993430999934409Frame-shift
ENST000002761419993430999934409Frame-shift
ENST000003729899993430999934409Frame-shift
ENST000002630339994206399942242Frame-shift
ENST000002761419994206399942242Frame-shift
ENST000003729899994206399942242Frame-shift
ENST000002630339994098699941148In-frame
ENST000002761419994098699941148In-frame
ENST000003729899994098699941148In-frame
ENST000002630339994610499946206In-frame
ENST000002761419994610499946206In-frame
ENST000003729899994610499946206In-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
ENST0000037298999958088999581813UTR-3UTR
ENST000002630339993430999934409Frame-shift
ENST000002761419993430999934409Frame-shift
ENST000003729899993430999934409Frame-shift
ENST000002630339994206399942242Frame-shift
ENST000002761419994206399942242Frame-shift
ENST000003729899994206399942242Frame-shift
ENST000002630339994098699941148In-frame
ENST000002761419994098699941148In-frame
ENST000003729899994098699941148In-frame
ENST000002630339994610499946206In-frame
ENST000002761419994610499946206In-frame
ENST000003729899994610499946206In-frame

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Infer the effects of exon skipping event on protein functional features for SYTL4

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
ENST0000026303323526719994610499946206728829180213
ENST0000027614137546719994610499946206727828180213
ENST0000037298939026719994610499946206872973180213
ENST000002630332352671999409869994114814761637429483
ENST000002761413754671999409869994114814751636429483
ENST000003729893902671999409869994114816201781429483

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
ENST0000026303323526719994610499946206728829180213
ENST0000027614137546719994610499946206727828180213
ENST0000037298939026719994610499946206872973180213
ENST000002630332352671999409869994114814761637429483
ENST000002761413754671999409869994114814751636429483
ENST000003729893902671999409869994114816201781429483

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
Q96C241802131671ChainID=PRO_0000190216;Note=Synaptotagmin-like protein 4
Q96C241802131671ChainID=PRO_0000190216;Note=Synaptotagmin-like protein 4
Q96C241802131671ChainID=PRO_0000190216;Note=Synaptotagmin-like protein 4
Q96C24180213201201Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9R0Q1
Q96C24180213201201Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9R0Q1
Q96C24180213201201Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9R0Q1
Q96C24180213204204Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q96C24180213204204Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q96C24180213204204Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q96C24429483336657Alternative sequenceID=VSP_015237;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q96C24429483336657Alternative sequenceID=VSP_015237;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q96C24429483336657Alternative sequenceID=VSP_015237;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q96C24429483423431Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483423431Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483423431Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483441449Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483441449Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483441449Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483455464Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483455464Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483455464Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483474479Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483474479Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483474479Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C244294831671ChainID=PRO_0000190216;Note=Synaptotagmin-like protein 4
Q96C244294831671ChainID=PRO_0000190216;Note=Synaptotagmin-like protein 4
Q96C244294831671ChainID=PRO_0000190216;Note=Synaptotagmin-like protein 4
Q96C24429483358462DomainNote=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041
Q96C24429483358462DomainNote=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041
Q96C24429483358462DomainNote=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041
Q96C24429483437439HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483437439HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483437439HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483451453HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483451453HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483451453HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483465468HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483465468HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483465468HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483469471TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483469471TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483469471TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW


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
Q96C241802131671ChainID=PRO_0000190216;Note=Synaptotagmin-like protein 4
Q96C241802131671ChainID=PRO_0000190216;Note=Synaptotagmin-like protein 4
Q96C241802131671ChainID=PRO_0000190216;Note=Synaptotagmin-like protein 4
Q96C24180213201201Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9R0Q1
Q96C24180213201201Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9R0Q1
Q96C24180213201201Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9R0Q1
Q96C24180213204204Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q96C24180213204204Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q96C24180213204204Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q96C24429483336657Alternative sequenceID=VSP_015237;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q96C24429483336657Alternative sequenceID=VSP_015237;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q96C24429483336657Alternative sequenceID=VSP_015237;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q96C24429483423431Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483423431Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483423431Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483441449Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483441449Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483441449Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483455464Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483455464Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483455464Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483474479Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483474479Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483474479Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C244294831671ChainID=PRO_0000190216;Note=Synaptotagmin-like protein 4
Q96C244294831671ChainID=PRO_0000190216;Note=Synaptotagmin-like protein 4
Q96C244294831671ChainID=PRO_0000190216;Note=Synaptotagmin-like protein 4
Q96C24429483358462DomainNote=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041
Q96C24429483358462DomainNote=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041
Q96C24429483358462DomainNote=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041
Q96C24429483437439HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483437439HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483437439HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483451453HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483451453HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483451453HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483465468HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483465468HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483465468HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483469471TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483469471TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW
Q96C24429483469471TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FDW


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SNVs in the skipped exons for SYTL4

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.

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_515955
99942064999422429994209199942091Frame_Shift_DelG-p.A386fs
LIHCTCGA-DD-A1EG-01exon_skip_515955
99942064999422429994211599942115Frame_Shift_DelT-p.K378fs
LIHCTCGA-DD-A3A0-01exon_skip_515955
99942064999422429994219299942192Frame_Shift_DelC-p.G352fs
KICHTCGA-KO-8408-01exon_skip_515955
99942064999422429994216799942168Frame_Shift_Ins-Ap.I360fs
COADTCGA-CA-6717-01exon_skip_515954
99940987999411489994113699941136Nonsense_MutationCAp.E434X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
TOV21G_OVARY99940987999411489994108099941080Frame_Shift_DelA-p.F452fs
BICR18_UPPER_AERODIGESTIVE_TRACT99934310999344099993434199934341Missense_MutationCAp.A543S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE99934310999344099993434199934341Missense_MutationCAp.A543S
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE99934310999344099993434199934341Missense_MutationCAp.A543S
MDST8_LARGE_INTESTINE99934310999344099993439899934399Missense_MutationCCTTp.E524K
22RV1_PROSTATE99942064999422429994207399942073Missense_MutationCTp.R392H
SUDHL16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE99942064999422429994211099942110Missense_MutationAGp.C380R
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE99942064999422429994212499942124Missense_MutationAGp.V375A
MCF7_BREAST99946105999462069994612999946129Missense_MutationGTp.T206K
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE99946105999462069994613799946137Missense_MutationACp.D203E
MOGGUVW_CENTRAL_NERVOUS_SYSTEM99934310999344099993431199934311Splice_SiteCAp.G553*
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE99934310999344099993440899934408Splice_SiteACp.S520R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SYTL4

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 SYTL4


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SYTL4


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RelatedDrugs for SYTL4

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
Q96C24DB00071Insulin PorkSynaptotagmin-like protein 4biotechapproved

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RelatedDiseases for SYTL4

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource