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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 TSPAN8

check button Gene summary
Gene informationGene symbol

TSPAN8

Gene ID

7103

Gene nametetraspanin 8
SynonymsCO-029|TM4SF3
Cytomap

12q21.1

Type of geneprotein-coding
Descriptiontetraspanin-8transmembrane 4 superfamily member 3tspan-8tumor-associated antigen CO-029
Modification date20180523
UniProtAcc

P19075

ContextPubMed: TSPAN8 [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 TSPAN8 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 TSPAN8

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 TSPAN8

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_946841271518932:71519167:71523110:71523194:71526472:7152660471523110:71523194ENSG00000127324.4ENST00000247829.3,ENST00000552128.1,ENST00000546561.1,ENST00000393330.2
exon_skip_946901271523110:71523194:71526472:71526604:71531732:7153184071526472:71526604ENSG00000127324.4ENST00000247829.3,ENST00000552128.1,ENST00000546561.1,ENST00000393330.2
exon_skip_946921271526472:71526604:71531732:71531840:71531935:7153201071531732:71531840ENSG00000127324.4ENST00000247829.3,ENST00000552128.1,ENST00000546561.1,ENST00000393330.2
exon_skip_946951271531935:71532010:71533490:71533628:71537930:7153799371533490:71533628ENSG00000127324.4ENST00000247829.3,ENST00000546561.1,ENST00000393330.2
exon_skip_946961271533612:71533628:71537930:71537993:71551398:7155156771537930:71537993ENSG00000127324.4ENST00000247829.3,ENST00000546561.1,ENST00000393330.2
exon_skip_947001271537930:71537993:71550679:71550785:71551398:7155156771550679:71550785ENSG00000127324.4ENST00000552786.1
exon_skip_947071271551527:71551567:71671130:71671192:71676495:7167659971671130:71671192ENSG00000127324.4ENST00000393330.2
exon_skip_947091271676495:71676599:71709102:71709167:71709499:7170953671709102:71709167ENSG00000127324.4ENST00000549421.1

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

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Exon skipping events with PSIs in GTEx for TSPAN8

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_946841271518932:71519167:71523110:71523194:71526472:7152660471523110:71523194ENSG00000127324.4ENST00000393330.2,ENST00000247829.3,ENST00000546561.1,ENST00000552128.1
exon_skip_946901271523110:71523194:71526472:71526604:71531732:7153184071526472:71526604ENSG00000127324.4ENST00000393330.2,ENST00000247829.3,ENST00000546561.1,ENST00000552128.1
exon_skip_946921271526472:71526604:71531732:71531840:71531935:7153201071531732:71531840ENSG00000127324.4ENST00000393330.2,ENST00000247829.3,ENST00000546561.1,ENST00000552128.1
exon_skip_946951271531935:71532010:71533490:71533628:71537930:7153799371533490:71533628ENSG00000127324.4ENST00000393330.2,ENST00000247829.3,ENST00000546561.1
exon_skip_946961271533612:71533628:71537930:71537993:71551398:7155156771537930:71537993ENSG00000127324.4ENST00000393330.2,ENST00000247829.3,ENST00000546561.1
exon_skip_947001271537930:71537993:71550679:71550785:71551398:7155156771550679:71550785ENSG00000127324.4ENST00000552786.1
exon_skip_947071271551527:71551567:71671130:71671192:71676495:7167659971671130:71671192ENSG00000127324.4ENST00000393330.2

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 TSPAN8

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
ENST0000039333071671130716711923UTR-3UTR
ENST000002478297152311071523194In-frame
ENST000003933307152311071523194In-frame
ENST000005465617152311071523194In-frame
ENST000002478297152647271526604In-frame
ENST000003933307152647271526604In-frame
ENST000005465617152647271526604In-frame
ENST000002478297153173271531840In-frame
ENST000003933307153173271531840In-frame
ENST000005465617153173271531840In-frame
ENST000002478297153349071533628In-frame
ENST000003933307153349071533628In-frame
ENST000005465617153349071533628In-frame
ENST000002478297153793071537993In-frame
ENST000003933307153793071537993In-frame
ENST000005465617153793071537993In-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
ENST0000039333071671130716711923UTR-3UTR
ENST000002478297152311071523194In-frame
ENST000003933307152311071523194In-frame
ENST000005465617152311071523194In-frame
ENST000002478297152647271526604In-frame
ENST000003933307152647271526604In-frame
ENST000005465617152647271526604In-frame
ENST000002478297153173271531840In-frame
ENST000003933307153173271531840In-frame
ENST000005465617153173271531840In-frame
ENST000002478297153349071533628In-frame
ENST000003933307153349071533628In-frame
ENST000005465617153349071533628In-frame
ENST000002478297153793071537993In-frame
ENST000003933307153793071537993In-frame
ENST000005465617153793071537993In-frame

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Infer the effects of exon skipping event on protein functional features for TSPAN8

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
ENST00000247829124423771537930715379933404022041
ENST00000393330153323771537930715379936146762041
ENST00000546561118523771537930715379932823442041
ENST00000247829124423771533490715336284035404187
ENST00000393330153323771533490715336286778144187
ENST00000546561118523771533490715336283454824187
ENST0000024782912442377153173271531840616723112148
ENST0000039333015332377153173271531840890997112148
ENST0000054656111852377153173271531840558665112148
ENST0000024782912442377152647271526604724855148192
ENST00000393330153323771526472715266049981129148192
ENST0000054656111852377152647271526604666797148192
ENST0000024782912442377152311071523194856939192220
ENST000003933301533237715231107152319411301213192220
ENST0000054656111852377152311071523194798881192220

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
ENST00000247829124423771537930715379933404022041
ENST00000393330153323771537930715379936146762041
ENST00000546561118523771537930715379932823442041
ENST00000247829124423771533490715336284035404187
ENST00000393330153323771533490715336286778144187
ENST00000546561118523771533490715336283454824187
ENST0000024782912442377153173271531840616723112148
ENST0000039333015332377153173271531840890997112148
ENST0000054656111852377153173271531840558665112148
ENST0000024782912442377152647271526604724855148192
ENST00000393330153323771526472715266049981129148192
ENST0000054656111852377152647271526604666797148192
ENST0000024782912442377152311071523194856939192220
ENST000003933301533237715231107152319411301213192220
ENST0000054656111852377152311071523194798881192220

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
P1907520411237ChainID=PRO_0000219252;Note=Tetraspanin-8
P1907520411237ChainID=PRO_0000219252;Note=Tetraspanin-8
P1907520411237ChainID=PRO_0000219252;Note=Tetraspanin-8
P1907520413535Natural variantID=VAR_061848;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17849952,PMID:15489334
P1907520413535Natural variantID=VAR_061848;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17849952,PMID:15489334
P1907520413535Natural variantID=VAR_061848;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17849952,PMID:15489334
P1907520413457Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907520413457Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907520413457Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907520411033TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907520411033TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907520411033TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907541871237ChainID=PRO_0000219252;Note=Tetraspanin-8
P1907541871237ChainID=PRO_0000219252;Note=Tetraspanin-8
P1907541871237ChainID=PRO_0000219252;Note=Tetraspanin-8
P1907541877373Natural variantID=VAR_020093;Note=G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs3763978,PMID:15489334
P1907541877373Natural variantID=VAR_020093;Note=G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs3763978,PMID:15489334
P1907541877373Natural variantID=VAR_020093;Note=G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs3763978,PMID:15489334
P1907541873457Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907541873457Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907541873457Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907541877383Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907541877383Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907541877383Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907541875872TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907541875872TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907541875872TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075418784109TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075418784109TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075418784109TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P190751121481237ChainID=PRO_0000219252;Note=Tetraspanin-8
P190751121481237ChainID=PRO_0000219252;Note=Tetraspanin-8
P190751121481237ChainID=PRO_0000219252;Note=Tetraspanin-8
P19075112148118118GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218
P19075112148118118GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218
P19075112148118118GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218
P19075112148110205Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075112148110205Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075112148110205Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P190751481921237ChainID=PRO_0000219252;Note=Tetraspanin-8
P190751481921237ChainID=PRO_0000219252;Note=Tetraspanin-8
P190751481921237ChainID=PRO_0000219252;Note=Tetraspanin-8
P19075148192110205Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075148192110205Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075148192110205Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P190751922201237ChainID=PRO_0000219252;Note=Tetraspanin-8
P190751922201237ChainID=PRO_0000219252;Note=Tetraspanin-8
P190751922201237ChainID=PRO_0000219252;Note=Tetraspanin-8
P19075192220213213Natural variantID=VAR_012054;Note=S->A;Dbxref=dbSNP:rs1051334
P19075192220213213Natural variantID=VAR_012054;Note=S->A;Dbxref=dbSNP:rs1051334
P19075192220213213Natural variantID=VAR_012054;Note=S->A;Dbxref=dbSNP:rs1051334
P19075192220110205Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075192220110205Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075192220110205Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075192220206230TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075192220206230TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075192220206230TransmembraneNote=Helical;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
P1907520411237ChainID=PRO_0000219252;Note=Tetraspanin-8
P1907520411237ChainID=PRO_0000219252;Note=Tetraspanin-8
P1907520411237ChainID=PRO_0000219252;Note=Tetraspanin-8
P1907520413535Natural variantID=VAR_061848;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17849952,PMID:15489334
P1907520413535Natural variantID=VAR_061848;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17849952,PMID:15489334
P1907520413535Natural variantID=VAR_061848;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17849952,PMID:15489334
P1907520413457Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907520413457Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907520413457Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907520411033TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907520411033TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907520411033TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907541871237ChainID=PRO_0000219252;Note=Tetraspanin-8
P1907541871237ChainID=PRO_0000219252;Note=Tetraspanin-8
P1907541871237ChainID=PRO_0000219252;Note=Tetraspanin-8
P1907541877373Natural variantID=VAR_020093;Note=G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs3763978,PMID:15489334
P1907541877373Natural variantID=VAR_020093;Note=G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs3763978,PMID:15489334
P1907541877373Natural variantID=VAR_020093;Note=G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs3763978,PMID:15489334
P1907541873457Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907541873457Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907541873457Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907541877383Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907541877383Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907541877383Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907541875872TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907541875872TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P1907541875872TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075418784109TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075418784109TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075418784109TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P190751121481237ChainID=PRO_0000219252;Note=Tetraspanin-8
P190751121481237ChainID=PRO_0000219252;Note=Tetraspanin-8
P190751121481237ChainID=PRO_0000219252;Note=Tetraspanin-8
P19075112148118118GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218
P19075112148118118GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218
P19075112148118118GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218
P19075112148110205Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075112148110205Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075112148110205Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P190751481921237ChainID=PRO_0000219252;Note=Tetraspanin-8
P190751481921237ChainID=PRO_0000219252;Note=Tetraspanin-8
P190751481921237ChainID=PRO_0000219252;Note=Tetraspanin-8
P19075148192110205Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075148192110205Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075148192110205Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P190751922201237ChainID=PRO_0000219252;Note=Tetraspanin-8
P190751922201237ChainID=PRO_0000219252;Note=Tetraspanin-8
P190751922201237ChainID=PRO_0000219252;Note=Tetraspanin-8
P19075192220213213Natural variantID=VAR_012054;Note=S->A;Dbxref=dbSNP:rs1051334
P19075192220213213Natural variantID=VAR_012054;Note=S->A;Dbxref=dbSNP:rs1051334
P19075192220213213Natural variantID=VAR_012054;Note=S->A;Dbxref=dbSNP:rs1051334
P19075192220110205Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075192220110205Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075192220110205Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075192220206230TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075192220206230TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P19075192220206230TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for TSPAN8

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.
TSPAN8_COAD_exon_skip_94695_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
STADTCGA-BR-4184-01exon_skip_94684
71523111715231947152315771523157Frame_Shift_DelT-p.N205fs
LIHCTCGA-DD-A1EG-01exon_skip_94690
71526473715266047152658871526588Frame_Shift_DelA-p.L154fs
LIHCTCGA-DD-A39Y-01exon_skip_94692
71531733715318407153180671531806Frame_Shift_DelT-p.N124fs
UCSTCGA-ND-A4WC-01exon_skip_94684
71523111715231947152315671523157Frame_Shift_Ins-Tp.I205fs
STADTCGA-MX-A5UJ-01exon_skip_94692
71531733715318407153176871531769Frame_Shift_Ins-Tp.I137fs
STADTCGA-MX-A5UJ-01exon_skip_94692
71531733715318407153176871531769Frame_Shift_Ins-Tp.Q137fs
SKCMTCGA-D3-A8GI-06exon_skip_94690
71526473715266047152650571526505Nonsense_MutationGAp.Q182*
BRCATCGA-E2-A1LG-01exon_skip_94684
71523111715231947152319571523195Splice_SiteCTe7-1
COADTCGA-A6-6780-01exon_skip_94695
71533491715336287153349071533490Splice_SiteCT.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
TSPAN8_71531935_71532010_71533490_71533628_71537930_71537993_TCGA-A6-6780-01Sample: TCGA-A6-6780-01
Cancer type: COAD
ESID: exon_skip_94695
Skipped exon start: 71533491
Skipped exon end: 71533628
Mutation start: 71533490
Mutation end: 71533490
Mutation type: Splice_Site
Reference seq: C
Mutation seq: T
AAchange: .
exon_skip_329992_COAD_TCGA-A6-6780-01.png
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exon_skip_436589_COAD_TCGA-A6-6780-01.png
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exon_skip_436615_COAD_TCGA-A6-6780-01.png
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exon_skip_436616_COAD_TCGA-A6-6780-01.png
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exon_skip_436617_COAD_TCGA-A6-6780-01.png
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exon_skip_436618_COAD_TCGA-A6-6780-01.png
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exon_skip_436619_COAD_TCGA-A6-6780-01.png
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exon_skip_439048_COAD_TCGA-A6-6780-01.png
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exon_skip_56024_COAD_TCGA-A6-6780-01.png
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exon_skip_94695_COAD_TCGA-A6-6780-01.png
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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
HS936T_SKIN71523111715231947152315671523157Frame_Shift_Ins-Tp.N205fs
HUG1N_STOMACH71523111715231947152315671523157Frame_Shift_Ins-Tp.N205fs
NCIH2081_LUNG71523111715231947152315671523157Frame_Shift_Ins-Tp.N205fs
NCIH2170_LUNG71523111715231947152315671523157Frame_Shift_Ins-Tp.N205fs
NCIH647_LUNG71523111715231947152315671523157Frame_Shift_Ins-Tp.N205fs
NCIH747_LARGE_INTESTINE71523111715231947152315671523157Frame_Shift_Ins-Tp.N205fs
OE19_OESOPHAGUS71523111715231947152315671523157Frame_Shift_Ins-Tp.N205fs
QGP1_PANCREAS71523111715231947152315671523157Frame_Shift_Ins-Tp.N205fs
SKES1_BONE71523111715231947152315671523157Frame_Shift_Ins-Tp.N205fs
SNU620_STOMACH71523111715231947152315671523157Frame_Shift_Ins-Tp.N205fs
SNU869_BILIARY_TRACT71523111715231947152315671523157Frame_Shift_Ins-Tp.N205fs
TE4_OESOPHAGUS71523111715231947152315671523157Frame_Shift_Ins-Tp.N205fs
YKG1_CENTRAL_NERVOUS_SYSTEM71523111715231947152315671523157Frame_Shift_Ins-Tp.N205fs
NCIH1930_LUNG71526473715266047152649971526499Missense_MutationATp.Y184N
F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE71526473715266047152650271526502Missense_MutationTCp.S183G
CS1_BONE71526473715266047152652671526526Missense_MutationGCp.L175V
HEC108_ENDOMETRIUM71526473715266047152659871526598Missense_MutationAGp.C151R
NCIH211_LUNG71531733715318407153178671531786Missense_MutationTCp.T131A
SNU503_LARGE_INTESTINE71531733715318407153180371531803Missense_MutationGTp.T125K
BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE71531733715318407153180371531803Missense_MutationGCp.T125R
SNU1040_LARGE_INTESTINE71531733715318407153182771531827Missense_MutationAGp.V117A
RERFLCKJ_LUNG71531733715318407153182771531827Missense_MutationAGp.V117A
SKNDZ_AUTONOMIC_GANGLIA71531733715318407153182771531827Missense_MutationAGp.V117A
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE71531733715318407153183371531833Missense_MutationCAp.R115L
SW684_SOFT_TISSUE71531733715318407153183471531834Missense_MutationGAp.R115C
EFM192A_BREAST71533491715336287153353871533538Missense_MutationGTp.L72M
CP67MEL_SKIN71533491715336287153355171533551Missense_MutationCTp.M67I
SW156_KIDNEY71537931715379937153797271537972Missense_MutationCTp.A28T
SARC9371_BONE71531733715318407153174171531741Nonsense_MutationGAp.Q146*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TSPAN8

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_946841271518932:71519167:71523110:71523194:71526472:7152660471523110:71523194ENST00000247829.3,ENST00000552128.1,ENST00000546561.1,ENST00000393330.2COADrs1051334chr12:71523134A/C5.48e-06
exon_skip_946841271518932:71519167:71523110:71523194:71526472:7152660471523110:71523194ENST00000247829.3,ENST00000552128.1,ENST00000546561.1,ENST00000393330.2STADrs1051334chr12:71523134A/C6.29e-04
exon_skip_947001271537930:71537993:71550679:71550785:71551398:7155156771550679:71550785ENST00000552786.1COADrs1798085chr12:71550697T/C4.38e-07
exon_skip_947001271537930:71537993:71550679:71550785:71551398:7155156771550679:71550785ENST00000552786.1PAADrs1798085chr12:71550697T/C7.76e-05
exon_skip_947001271537930:71537993:71550679:71550785:71551398:7155156771550679:71550785ENST00000552786.1STADrs1798085chr12:71550697T/C3.63e-04
exon_skip_946951271531935:71532010:71533490:71533628:71537930:7153799371533490:71533628ENST00000247829.3,ENST00000546561.1,ENST00000393330.2COADrs3763978chr12:71533534C/G1.66e-06
exon_skip_946951271531935:71532010:71533490:71533628:71537930:7153799371533490:71533628ENST00000247829.3,ENST00000546561.1,ENST00000393330.2STADrs79443892chr12:71533622C/T9.34e-05
exon_skip_946951271531935:71532010:71533490:71533628:71537930:7153799371533490:71533628ENST00000247829.3,ENST00000546561.1,ENST00000393330.2STADrs3763978chr12:71533534C/G7.20e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TSPAN8


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TSPAN8


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RelatedDrugs for TSPAN8

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 TSPAN8

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
TSPAN8C0005586Bipolar Disorder1PSYGENET
TSPAN8C0023893Liver Cirrhosis, Experimental1CTD_human
TSPAN8C0035222Respiratory Distress Syndrome, Adult1CTD_human
TSPAN8C0036341Schizophrenia1PSYGENET
TSPAN8C0525045Mood Disorders1PSYGENET