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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 SYT9

check button Gene summary
Gene informationGene symbol

SYT9

Gene ID

143425

Gene namesynaptotagmin 9
Synonyms-
Cytomap

11p15.4

Type of geneprotein-coding
Descriptionsynaptotagmin-9synaptotagmin IXsytIX
Modification date20180523
UniProtAcc

Q86SS6

ContextPubMed: SYT9 [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 SYT9 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 SYT9

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 SYT9

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_56710117273400:7273562:7324269:7324621:7334625:73351727324269:7324621ENSG00000170743.12ENST00000318881.6
exon_skip_56711117324269:7324621:7334625:7335172:7437272:74373937334625:7335172ENSG00000170743.12ENST00000318881.6
exon_skip_56713117439187:7439359:7441736:7441866:7488022:74902687441736:7441866ENSG00000170743.12ENST00000532592.1,ENST00000318881.6

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

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Exon skipping events with PSIs in GTEx for SYT9

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_56710117273400:7273562:7324269:7324621:7334625:73351727324269:7324621ENSG00000170743.12ENST00000318881.6
exon_skip_56711117324269:7324621:7334625:7335172:7437272:74373937334625:7335172ENSG00000170743.12ENST00000318881.6
exon_skip_56713117439187:7439359:7441736:7441866:7488022:74902687441736:7441866ENSG00000170743.12ENST00000318881.6,ENST00000532592.1

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 SYT9

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
ENST0000031888173242697324621Frame-shift
ENST0000031888173346257335172Frame-shift
ENST0000031888174417367441866Frame-shift

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
ENST0000031888173242697324621Frame-shift
ENST0000031888173346257335172Frame-shift
ENST0000031888174417367441866Frame-shift

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Infer the effects of exon skipping event on protein functional features for SYT9

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

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

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


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


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SNVs in the skipped exons for SYT9

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-DD-A39Y-01exon_skip_56711
7334626733517273346887334688Frame_Shift_DelA-p.Q187fs
LIHCTCGA-DD-A39Y-01exon_skip_56711
7334626733517273348827334882Frame_Shift_DelT-p.F252fs
LIHCTCGA-G3-A3CJ-01exon_skip_56711
7334626733517273349337334933Frame_Shift_DelA-p.K269fs
LUADTCGA-49-4488-01exon_skip_56713
7441737744186674418377441837Frame_Shift_DelC-p.P480fs
PRADTCGA-ZG-A9MC-01exon_skip_56710
7324270732462173244137324413Nonsense_MutationGTp.E97*
SKCMTCGA-ER-A19E-06exon_skip_56710
7324270732462173245577324557Nonsense_MutationCTp.Q145*
CHOLTCGA-3X-AAVB-01exon_skip_56711
7334626733517273347087334708Nonsense_MutationGTp.G194X
LUADTCGA-49-6744-01exon_skip_56710
7324270732462173242697324269Splice_SiteGCp.D49_splice
COADTCGA-AA-3510-01exon_skip_56710
7324270732462173246227324622Splice_SiteGT.

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
KYSE150_OESOPHAGUS7324270732462173243177324317Missense_MutationGTp.A65S
NCIH187_LUNG7324270732462173243337324333Missense_MutationCTp.S70F
MEWO_SKIN7324270732462173244647324464Missense_MutationGAp.D114N
WM88_SKIN7324270732462173245517324551Missense_MutationGAp.G143R
HEC151_ENDOMETRIUM7324270732462173245817324581Missense_MutationCTp.R153C
CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7324270732462173245817324581Missense_MutationCTp.R153C
RERFLCFM_LUNG7334626733517273347927334793Missense_MutationGGTTp.G222L
G402_SOFT_TISSUE7334626733517273348267334826Missense_MutationATp.D233V
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7334626733517273348737334873Missense_MutationGAp.A249T
GP5D_LARGE_INTESTINE7334626733517273349157334915Missense_MutationTCp.Y263H
HUTU80_SMALL_INTESTINE7334626733517273349167334916Missense_MutationAGp.Y263C
COLO741_SKIN7334626733517273349307334930Missense_MutationCTp.R268W
ISTSL2_LUNG7334626733517273349317334931Missense_MutationGAp.R268Q
NCIBL1395_MATCHED_NORMAL_TISSUE7334626733517273350117335011Missense_MutationTCp.Y295H
NCIH1395_LUNG7334626733517273350117335011Missense_MutationTCp.Y295H
CAL27_UPPER_AERODIGESTIVE_TRACT7334626733517273350537335053Missense_MutationGAp.D309N
CAL51_BREAST7334626733517273350627335062Missense_MutationAGp.R312G
FTC133_THYROID7334626733517273350877335087Missense_MutationGAp.G320D
SNU349_KIDNEY7334626733517273351227335122Missense_MutationGAp.D332N
CORL32_LUNG7334626733517273351297335129Missense_MutationCAp.P334H
LN18_CENTRAL_NERVOUS_SYSTEM7441737744186674417447441744Missense_MutationCAp.H449N
MCC13_SKIN7441737744186674417807441780Missense_MutationGAp.E461K
NCIH1975_LUNG7441737744186674418587441858Missense_MutationCAp.L487M
NCIH196_LUNG7441737744186674418617441861Missense_MutationGTp.V488L
SNU81_LARGE_INTESTINE7324270732462173243747324374Nonsense_MutationGTp.E84*
NCIH1755_LUNG7324270732462173246157324615Nonsense_MutationCAp.S164*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SYT9

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 SYT9


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SYT9


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RelatedDrugs for SYT9

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 SYT9

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