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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 TEX30

check button Gene summary
Gene informationGene symbol

TEX30

Gene ID

93081

Gene nametestis expressed 30
SynonymsC13orf27
Cytomap

13q33.1

Type of geneprotein-coding
Descriptiontestis-expressed protein 30testis-expressed sequence 30 protein
Modification date20180522
UniProtAcc

Q5JUR7

ContextPubMed: TEX30 [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 TEX30 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 TEX30

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 TEX30

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_10454513103418459:103418930:103419622:103419828:103420609:103420661103419622:103419828ENSG00000151287.12ENST00000376032.4,ENST00000376019.1,ENST00000376021.4
exon_skip_10454813103420626:103420661:103421660:103421891:103422361:103422436103421660:103421891ENSG00000151287.12ENST00000376027.1,ENST00000376032.4,ENST00000376029.3,ENST00000487260.1
exon_skip_10454913103420626:103420661:103421660:103421891:103426031:103426105103421660:103421891ENSG00000151287.12ENST00000376022.1,ENST00000376021.4
exon_skip_10455513103421660:103421891:103422361:103422436:103426031:103426105103422361:103422436ENSG00000151287.12ENST00000376032.4,ENST00000376029.3

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

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Exon skipping events with PSIs in GTEx for TEX30

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_10454513103418459:103418930:103419622:103419828:103420609:103420661103419622:103419828ENSG00000151287.12ENST00000376019.1,ENST00000376021.4,ENST00000376032.4
exon_skip_10454813103420626:103420661:103421660:103421891:103422361:103422436103421660:103421891ENSG00000151287.12ENST00000376027.1,ENST00000376032.4,ENST00000376029.3,ENST00000487260.1
exon_skip_10454913103420626:103420661:103421660:103421891:103426031:103426105103421660:103421891ENSG00000151287.12ENST00000376022.1,ENST00000376021.4
exon_skip_10455513103421660:103421891:103422361:103422436:103426031:103426105103422361:103422436ENSG00000151287.12ENST00000376032.4,ENST00000376029.3

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 TEX30

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
ENST000003760321034223611034224363UTR-3CDS
ENST00000376032103419622103419828Frame-shift
ENST00000376032103421660103421891In-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
ENST000003760321034223611034224363UTR-3CDS
ENST00000376032103419622103419828Frame-shift
ENST00000376032103421660103421891In-frame

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Infer the effects of exon skipping event on protein functional features for TEX30

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
ENST000003760321182227103421660103421891206436582

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
ENST000003760321182227103421660103421891206436582

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
Q5JUR75821227ChainID=PRO_0000274312;Note=Testis-expressed protein 30


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
Q5JUR75821227ChainID=PRO_0000274312;Note=Testis-expressed protein 30


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SNVs in the skipped exons for TEX30

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_104545
103419623103419828103419750103419750Frame_Shift_DelC-p.G85fs
UCSTCGA-ND-A4WC-01exon_skip_104545
103419623103419828103419691103419691Nonsense_MutationCAp.E105*
STADTCGA-HU-A4G8-01exon_skip_104545
103419623103419828103419621103419621Splice_SiteAG.

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
SNU1040_LARGE_INTESTINE103419623103419828103419643103419643Missense_MutationCGp.A162P
CCK81_LARGE_INTESTINE103419623103419828103419747103419747Missense_MutationAGp.L127P
NCIH1435_LUNG103419623103419828103419754103419754Missense_MutationGAp.R125W
MRKNU1_BREAST103419623103419828103419763103419763Missense_MutationCTp.D122N
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE103419623103419828103419768103419768Missense_MutationCGp.G120A
SNU175_LARGE_INTESTINE103419623103419828103419769103419769Missense_MutationCTp.G120S
JHUEM7_ENDOMETRIUM103419623103419828103419826103419826Missense_MutationGAp.R101C
SNU1040_LARGE_INTESTINE103421661103421891103421677103421677Missense_MutationGAp.A77V
HT115_LARGE_INTESTINE103421661103421891103421705103421705Missense_MutationCAp.G68C
TE4_OESOPHAGUS103422362103422436103422364103422364Missense_MutationCTp.E5K
JHUEM7_ENDOMETRIUM103419623103419828103419822103419822Nonsense_MutationGTp.S102*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TEX30

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 TEX30


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TEX30


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RelatedDrugs for TEX30

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 TEX30

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