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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 THEG

check button Gene summary
Gene informationGene symbol

THEG

Gene ID

51298

Gene nametheg spermatid protein
SynonymsCT56|THEG1
Cytomap

19p13.3

Type of geneprotein-coding
Descriptiontesticular haploid expressed gene proteinTheg homologcancer/testis antigen 56testis-specific
Modification date20180519
UniProtAcc

Q9P2T0

ContextPubMed: THEG [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 THEG 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 THEG

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 THEG

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_31229219371204:371322:372630:372700:373469:373531372630:372700ENSG00000105549.6ENST00000342640.4,ENST00000528213.1,ENST00000346878.2
exon_skip_31229519372630:372700:373469:373531:373939:374011373469:373531ENSG00000105549.6ENST00000342640.4,ENST00000528213.1
exon_skip_31229619373469:373531:373939:374011:374298:374421373939:374011ENSG00000105549.6ENST00000342640.4

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

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Exon skipping events with PSIs in GTEx for THEG

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_31229219371204:371322:372630:372700:373469:373531372630:372700ENSG00000105549.6ENST00000342640.4,ENST00000346878.2,ENST00000528213.1
exon_skip_31229519372630:372700:373469:373531:373939:374011373469:373531ENSG00000105549.6ENST00000342640.4,ENST00000528213.1
exon_skip_31229619373469:373531:373939:374011:374298:374421373939:374011ENSG00000105549.6ENST00000342640.4

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 THEG

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
ENST00000342640372630372700Frame-shift
ENST00000342640373469373531Frame-shift
ENST00000342640373939374011In-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
ENST00000342640372630372700Frame-shift
ENST00000342640373469373531Frame-shift
ENST00000342640373939374011In-frame

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

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
ENST000003426401343379373939374011475546144167

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
ENST000003426401343379373939374011475546144167

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
Q9P2T0144167145168Alternative sequenceID=VSP_028446;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11173852;Dbxref=PMID:11173852
Q9P2T01441671379ChainID=PRO_0000306267;Note=Testicular haploid expressed gene protein


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
Q9P2T0144167145168Alternative sequenceID=VSP_028446;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11173852;Dbxref=PMID:11173852
Q9P2T01441671379ChainID=PRO_0000306267;Note=Testicular haploid expressed gene protein


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SNVs in the skipped exons for THEG

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-A1EG-01exon_skip_312292
372631372700372648372648Frame_Shift_DelT-p.E206fs
LIHCTCGA-G3-A3CJ-01exon_skip_312295
373470373531373492373492Frame_Shift_DelG-p.T182fs
DLBCTCGA-G8-6324-01exon_skip_312295
373470373531373531373531Nonsense_MutationCTp.W168X
SKCMTCGA-GF-A769-01exon_skip_312296
373940374011374007374007Nonsense_MutationCAp.G146*

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
NCIH524_LUNG373470373531373471373471Splice_SiteGAp.P188P

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

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 THEG


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


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RelatedDrugs for THEG

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 THEG

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