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![]() | Open reading frame (ORF) annotation in the exon skipping event |
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![]() | Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
![]() | Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for TXN2 |
Gene summary |
| Gene information | Gene symbol | TXN2 | Gene ID | 25828 |
| Gene name | thioredoxin 2 | |
| Synonyms | COXPD29|MT-TRX|MTRX|TRX2|TXN | |
| Cytomap | 22q12.3 | |
| Type of gene | protein-coding | |
| Description | thioredoxin, mitochondrialmitochondrial thioredoxin | |
| Modification date | 20180527 | |
| UniProtAcc | Q99757 | |
| Context | PubMed: TXN2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for TXN2 from UCSC genome browser |
Skipped 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. |
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Gene isoform structures and expression levels for TXN2 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for TXN2 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_369133 | 22 | 36863930:36863964:36864648:36864764:36872779:36872903 | 36864648:36864764 | ENSG00000100348.5 | ENST00000411915.1 |
| exon_skip_369137 | 22 | 36863930:36863964:36872779:36872903:36876621:36876689 | 36872779:36872903 | ENSG00000100348.5 | ENST00000403313.1,ENST00000216185.2,ENST00000416967.1,ENST00000487725.1 |
| exon_skip_369144 | 22 | 36864648:36864764:36872779:36872903:36876621:36876795 | 36872779:36872903 | ENSG00000100348.5 | ENST00000411915.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TXN2 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_369133 | 22 | 36863930:36863964:36864648:36864764:36872779:36872903 | 36864648:36864764 | ENSG00000100348.5 | ENST00000411915.1 |
| exon_skip_369137 | 22 | 36863930:36863964:36872779:36872903:36876621:36876689 | 36872779:36872903 | ENSG00000100348.5 | ENST00000216185.2,ENST00000416967.1,ENST00000487725.1,ENST00000403313.1 |
| exon_skip_369144 | 22 | 36864648:36864764:36872779:36872903:36876621:36876795 | 36872779:36872903 | ENSG00000100348.5 | ENST00000411915.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for TXN2 |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000216185 | 36872779 | 36872903 | Frame-shift |
| ENST00000403313 | 36872779 | 36872903 | Frame-shift |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000216185 | 36872779 | 36872903 | Frame-shift |
| ENST00000403313 | 36872779 | 36872903 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for TXN2 |
Exon skipping at the protein sequence level and followed lost functional features.* Click on the image to enlarge it in a new window. |
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Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
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 feature | Description of feature |
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 feature | Description of feature |
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SNVs in the skipped exons for TXN2 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| UCS | TCGA-NA-A4QW-01 | exon_skip_369137 exon_skip_369144 | 36872780 | 36872903 | 36872876 | 36872876 | Frame_Shift_Del | C | - | p.G97fs |
| UCS | TCGA-NA-A4QW-01 | exon_skip_369137 exon_skip_369144 | 36872780 | 36872903 | 36872876 | 36872876 | Frame_Shift_Del | C | - | p.P98fs |
- Depth of coverage in the three exons composing exon skipping event |
- Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 36872780 | 36872903 | 36872809 | 36872809 | Missense_Mutation | C | T | p.D120N |
| KYSE410_OESOPHAGUS | 36872780 | 36872903 | 36872824 | 36872824 | Missense_Mutation | T | C | p.K115E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TXN2 |
sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_369133 | 22 | 36863930:36863964:36864648:36864764:36872779:36872903 | 36864648:36864764 | ENST00000411915.1 | COAD | rs12158096 | chr22:36864687 | G/A | 2.11e-04 |
| exon_skip_369133 | 22 | 36863930:36863964:36864648:36864764:36872779:36872903 | 36864648:36864764 | ENST00000411915.1 | COAD | rs34760321 | chr22:36864767 | CA/C | 1.11e-03 |
| exon_skip_369133 | 22 | 36863930:36863964:36864648:36864764:36872779:36872903 | 36864648:36864764 | ENST00000411915.1 | BLCA | rs12158096 | chr22:36864687 | G/A | 7.28e-04 |
| exon_skip_369133 | 22 | 36863930:36863964:36864648:36864764:36872779:36872903 | 36864648:36864764 | ENST00000411915.1 | HNSC | rs12158096 | chr22:36864687 | G/A | 6.33e-05 |
| exon_skip_369133 | 22 | 36863930:36863964:36864648:36864764:36872779:36872903 | 36864648:36864764 | ENST00000411915.1 | KIRP | rs34760321 | chr22:36864767 | CA/C | 1.73e-04 |
| exon_skip_369133 | 22 | 36863930:36863964:36864648:36864764:36872779:36872903 | 36864648:36864764 | ENST00000411915.1 | KIRP | rs12158096 | chr22:36864687 | G/A | 2.21e-04 |
| exon_skip_369133 | 22 | 36863930:36863964:36864648:36864764:36872779:36872903 | 36864648:36864764 | ENST00000411915.1 | LGG | rs34760321 | chr22:36864767 | CA/C | 5.58e-04 |
| exon_skip_369133 | 22 | 36863930:36863964:36864648:36864764:36872779:36872903 | 36864648:36864764 | ENST00000411915.1 | LGG | rs12158096 | chr22:36864687 | G/A | 5.95e-04 |
| exon_skip_369133 | 22 | 36863930:36863964:36864648:36864764:36872779:36872903 | 36864648:36864764 | ENST00000411915.1 | KIRC | rs12158096 | chr22:36864687 | G/A | 3.28e-09 |
| exon_skip_369133 | 22 | 36863930:36863964:36864648:36864764:36872779:36872903 | 36864648:36864764 | ENST00000411915.1 | KIRC | rs34760321 | chr22:36864767 | CA/C | 5.68e-08 |
| exon_skip_369133 | 22 | 36863930:36863964:36864648:36864764:36872779:36872903 | 36864648:36864764 | ENST00000411915.1 | PRAD | rs12158096 | chr22:36864687 | G/A | 1.80e-04 |
| exon_skip_369133 | 22 | 36863930:36863964:36864648:36864764:36872779:36872903 | 36864648:36864764 | ENST00000411915.1 | PRAD | rs34760321 | chr22:36864767 | CA/C | 5.83e-04 |
| exon_skip_369133 | 22 | 36863930:36863964:36864648:36864764:36872779:36872903 | 36864648:36864764 | ENST00000411915.1 | SARC | rs12158096 | chr22:36864687 | G/A | 1.63e-04 |
| exon_skip_369133 | 22 | 36863930:36863964:36864648:36864764:36872779:36872903 | 36864648:36864764 | ENST00000411915.1 | SARC | rs34760321 | chr22:36864767 | CA/C | 4.36e-04 |
| exon_skip_369133 | 22 | 36863930:36863964:36864648:36864764:36872779:36872903 | 36864648:36864764 | ENST00000411915.1 | THCA | rs12158096 | chr22:36864687 | G/A | 4.57e-10 |
| exon_skip_369133 | 22 | 36863930:36863964:36864648:36864764:36872779:36872903 | 36864648:36864764 | ENST00000411915.1 | THCA | rs34760321 | chr22:36864767 | CA/C | 1.49e-07 |
| exon_skip_369133 | 22 | 36863930:36863964:36864648:36864764:36872779:36872903 | 36864648:36864764 | ENST00000411915.1 | UCEC | rs34760321 | chr22:36864767 | CA/C | 3.89e-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 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TXN2 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TXN2 | C0080178 | Spina Bifida | 1 | CTD_human |