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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 TEX30 |
Gene summary |
| Gene information | Gene symbol | TEX30 | Gene ID | 93081 |
| Gene name | testis expressed 30 | |
| Synonyms | C13orf27 | |
| Cytomap | 13q33.1 | |
| Type of gene | protein-coding | |
| Description | testis-expressed protein 30testis-expressed sequence 30 protein | |
| Modification date | 20180522 | |
| UniProtAcc | Q5JUR7 | |
| Context | PubMed: TEX30 [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 TEX30 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 TEX30 |
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 TEX30 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_104545 | 13 | 103418459:103418930:103419622:103419828:103420609:103420661 | 103419622:103419828 | ENSG00000151287.12 | ENST00000376032.4,ENST00000376019.1,ENST00000376021.4 |
| exon_skip_104548 | 13 | 103420626:103420661:103421660:103421891:103422361:103422436 | 103421660:103421891 | ENSG00000151287.12 | ENST00000376027.1,ENST00000376032.4,ENST00000376029.3,ENST00000487260.1 |
| exon_skip_104549 | 13 | 103420626:103420661:103421660:103421891:103426031:103426105 | 103421660:103421891 | ENSG00000151287.12 | ENST00000376022.1,ENST00000376021.4 |
| exon_skip_104555 | 13 | 103421660:103421891:103422361:103422436:103426031:103426105 | 103422361:103422436 | ENSG00000151287.12 | ENST00000376032.4,ENST00000376029.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TEX30 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_104545 | 13 | 103418459:103418930:103419622:103419828:103420609:103420661 | 103419622:103419828 | ENSG00000151287.12 | ENST00000376019.1,ENST00000376021.4,ENST00000376032.4 |
| exon_skip_104548 | 13 | 103420626:103420661:103421660:103421891:103422361:103422436 | 103421660:103421891 | ENSG00000151287.12 | ENST00000376027.1,ENST00000376032.4,ENST00000376029.3,ENST00000487260.1 |
| exon_skip_104549 | 13 | 103420626:103420661:103421660:103421891:103426031:103426105 | 103421660:103421891 | ENSG00000151287.12 | ENST00000376022.1,ENST00000376021.4 |
| exon_skip_104555 | 13 | 103421660:103421891:103422361:103422436:103426031:103426105 | 103422361:103422436 | ENSG00000151287.12 | ENST00000376032.4,ENST00000376029.3 |
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 TEX30 |
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 |
| ENST00000376032 | 103422361 | 103422436 | 3UTR-3CDS |
| ENST00000376032 | 103419622 | 103419828 | Frame-shift |
| ENST00000376032 | 103421660 | 103421891 | In-frame |
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 |
| ENST00000376032 | 103422361 | 103422436 | 3UTR-3CDS |
| ENST00000376032 | 103419622 | 103419828 | Frame-shift |
| ENST00000376032 | 103421660 | 103421891 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TEX30 |
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 |
| ENST00000376032 | 1182 | 227 | 103421660 | 103421891 | 206 | 436 | 5 | 82 |
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 |
| ENST00000376032 | 1182 | 227 | 103421660 | 103421891 | 206 | 436 | 5 | 82 |
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 |
| Q5JUR7 | 5 | 82 | 1 | 227 | Chain | ID=PRO_0000274312;Note=Testis-expressed protein 30 |
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 |
| Q5JUR7 | 5 | 82 | 1 | 227 | Chain | ID=PRO_0000274312;Note=Testis-expressed protein 30 |
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SNVs in the skipped exons for TEX30 |
- 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 |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_104545 | 103419623 | 103419828 | 103419750 | 103419750 | Frame_Shift_Del | C | - | p.G85fs |
| UCS | TCGA-ND-A4WC-01 | exon_skip_104545 | 103419623 | 103419828 | 103419691 | 103419691 | Nonsense_Mutation | C | A | p.E105* |
| STAD | TCGA-HU-A4G8-01 | exon_skip_104545 | 103419623 | 103419828 | 103419621 | 103419621 | Splice_Site | A | G | . |
- Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
- 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 |
| SNU1040_LARGE_INTESTINE | 103419623 | 103419828 | 103419643 | 103419643 | Missense_Mutation | C | G | p.A162P |
| CCK81_LARGE_INTESTINE | 103419623 | 103419828 | 103419747 | 103419747 | Missense_Mutation | A | G | p.L127P |
| NCIH1435_LUNG | 103419623 | 103419828 | 103419754 | 103419754 | Missense_Mutation | G | A | p.R125W |
| MRKNU1_BREAST | 103419623 | 103419828 | 103419763 | 103419763 | Missense_Mutation | C | T | p.D122N |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 103419623 | 103419828 | 103419768 | 103419768 | Missense_Mutation | C | G | p.G120A |
| SNU175_LARGE_INTESTINE | 103419623 | 103419828 | 103419769 | 103419769 | Missense_Mutation | C | T | p.G120S |
| JHUEM7_ENDOMETRIUM | 103419623 | 103419828 | 103419826 | 103419826 | Missense_Mutation | G | A | p.R101C |
| SNU1040_LARGE_INTESTINE | 103421661 | 103421891 | 103421677 | 103421677 | Missense_Mutation | G | A | p.A77V |
| HT115_LARGE_INTESTINE | 103421661 | 103421891 | 103421705 | 103421705 | Missense_Mutation | C | A | p.G68C |
| TE4_OESOPHAGUS | 103422362 | 103422436 | 103422364 | 103422364 | Missense_Mutation | C | T | p.E5K |
| JHUEM7_ENDOMETRIUM | 103419623 | 103419828 | 103419822 | 103419822 | Nonsense_Mutation | G | T | p.S102* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TEX30 |
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 |
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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 |
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 TEX30 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |