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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 TXN2

check button Gene summary
Gene informationGene symbol

TXN2

Gene ID

25828

Gene namethioredoxin 2
SynonymsCOXPD29|MT-TRX|MTRX|TRX2|TXN
Cytomap

22q12.3

Type of geneprotein-coding
Descriptionthioredoxin, mitochondrialmitochondrial thioredoxin
Modification date20180527
UniProtAcc

Q99757

ContextPubMed: TXN2 [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 TXN2 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 TXN2

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 TXN2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3691332236863930:36863964:36864648:36864764:36872779:3687290336864648:36864764ENSG00000100348.5ENST00000411915.1
exon_skip_3691372236863930:36863964:36872779:36872903:36876621:3687668936872779:36872903ENSG00000100348.5ENST00000403313.1,ENST00000216185.2,ENST00000416967.1,ENST00000487725.1
exon_skip_3691442236864648:36864764:36872779:36872903:36876621:3687679536872779:36872903ENSG00000100348.5ENST00000411915.1

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

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Exon skipping events with PSIs in GTEx for TXN2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3691332236863930:36863964:36864648:36864764:36872779:3687290336864648:36864764ENSG00000100348.5ENST00000411915.1
exon_skip_3691372236863930:36863964:36872779:36872903:36876621:3687668936872779:36872903ENSG00000100348.5ENST00000216185.2,ENST00000416967.1,ENST00000487725.1,ENST00000403313.1
exon_skip_3691442236864648:36864764:36872779:36872903:36876621:3687679536872779:36872903ENSG00000100348.5ENST00000411915.1

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 TXN2

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
ENST000002161853687277936872903Frame-shift
ENST000004033133687277936872903Frame-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
ENST000002161853687277936872903Frame-shift
ENST000004033133687277936872903Frame-shift

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Infer the effects of exon skipping event on protein functional features for TXN2

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 TXN2

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
UCSTCGA-NA-A4QW-01exon_skip_369137
exon_skip_369144
36872780368729033687287636872876Frame_Shift_DelC-p.G97fs
UCSTCGA-NA-A4QW-01exon_skip_369137
exon_skip_369144
36872780368729033687287636872876Frame_Shift_DelC-p.P98fs

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
TXN2_36863930_36863964_36872779_36872903_36876621_36876689_TCGA-NA-A4QW-01Sample: TCGA-NA-A4QW-01
Cancer type: UCS
ESID: exon_skip_369144
Skipped exon start: 36872780
Skipped exon end: 36872903
Mutation start: 36872876
Mutation end: 36872876
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.P98fs
TXN2_36863930_36863964_36872779_36872903_36876621_36876689_TCGA-NA-A4QW-01Sample: TCGA-NA-A4QW-01
Cancer type: UCS
ESID: exon_skip_369144
Skipped exon start: 36872780
Skipped exon end: 36872903
Mutation start: 36872876
Mutation end: 36872876
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.G97fs
exon_skip_369137_UCS_TCGA-NA-A4QW-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE36872780368729033687280936872809Missense_MutationCTp.D120N
KYSE410_OESOPHAGUS36872780368729033687282436872824Missense_MutationTCp.K115E

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TXN2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_3691332236863930:36863964:36864648:36864764:36872779:3687290336864648:36864764ENST00000411915.1COADrs12158096chr22:36864687G/A2.11e-04
exon_skip_3691332236863930:36863964:36864648:36864764:36872779:3687290336864648:36864764ENST00000411915.1COADrs34760321chr22:36864767CA/C1.11e-03
exon_skip_3691332236863930:36863964:36864648:36864764:36872779:3687290336864648:36864764ENST00000411915.1BLCArs12158096chr22:36864687G/A7.28e-04
exon_skip_3691332236863930:36863964:36864648:36864764:36872779:3687290336864648:36864764ENST00000411915.1HNSCrs12158096chr22:36864687G/A6.33e-05
exon_skip_3691332236863930:36863964:36864648:36864764:36872779:3687290336864648:36864764ENST00000411915.1KIRPrs34760321chr22:36864767CA/C1.73e-04
exon_skip_3691332236863930:36863964:36864648:36864764:36872779:3687290336864648:36864764ENST00000411915.1KIRPrs12158096chr22:36864687G/A2.21e-04
exon_skip_3691332236863930:36863964:36864648:36864764:36872779:3687290336864648:36864764ENST00000411915.1LGGrs34760321chr22:36864767CA/C5.58e-04
exon_skip_3691332236863930:36863964:36864648:36864764:36872779:3687290336864648:36864764ENST00000411915.1LGGrs12158096chr22:36864687G/A5.95e-04
exon_skip_3691332236863930:36863964:36864648:36864764:36872779:3687290336864648:36864764ENST00000411915.1KIRCrs12158096chr22:36864687G/A3.28e-09
exon_skip_3691332236863930:36863964:36864648:36864764:36872779:3687290336864648:36864764ENST00000411915.1KIRCrs34760321chr22:36864767CA/C5.68e-08
exon_skip_3691332236863930:36863964:36864648:36864764:36872779:3687290336864648:36864764ENST00000411915.1PRADrs12158096chr22:36864687G/A1.80e-04
exon_skip_3691332236863930:36863964:36864648:36864764:36872779:3687290336864648:36864764ENST00000411915.1PRADrs34760321chr22:36864767CA/C5.83e-04
exon_skip_3691332236863930:36863964:36864648:36864764:36872779:3687290336864648:36864764ENST00000411915.1SARCrs12158096chr22:36864687G/A1.63e-04
exon_skip_3691332236863930:36863964:36864648:36864764:36872779:3687290336864648:36864764ENST00000411915.1SARCrs34760321chr22:36864767CA/C4.36e-04
exon_skip_3691332236863930:36863964:36864648:36864764:36872779:3687290336864648:36864764ENST00000411915.1THCArs12158096chr22:36864687G/A4.57e-10
exon_skip_3691332236863930:36863964:36864648:36864764:36872779:3687290336864648:36864764ENST00000411915.1THCArs34760321chr22:36864767CA/C1.49e-07
exon_skip_3691332236863930:36863964:36864648:36864764:36872779:3687290336864648:36864764ENST00000411915.1UCECrs34760321chr22:36864767CA/C3.89e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TXN2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TXN2


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RelatedDrugs for TXN2

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 TXN2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
TXN2C0080178Spina Bifida1CTD_human