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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for THEG |
Gene summary |
Gene information | Gene symbol | THEG | Gene ID | 51298 |
Gene name | theg spermatid protein | |
Synonyms | CT56|THEG1 | |
Cytomap | 19p13.3 | |
Type of gene | protein-coding | |
Description | testicular haploid expressed gene proteinTheg homologcancer/testis antigen 56testis-specific | |
Modification date | 20180519 | |
UniProtAcc | Q9P2T0 | |
Context | PubMed: THEG [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 THEG 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 THEG |
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 THEG |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_312292 | 19 | 371204:371322:372630:372700:373469:373531 | 372630:372700 | ENSG00000105549.6 | ENST00000342640.4,ENST00000528213.1,ENST00000346878.2 |
exon_skip_312295 | 19 | 372630:372700:373469:373531:373939:374011 | 373469:373531 | ENSG00000105549.6 | ENST00000342640.4,ENST00000528213.1 |
exon_skip_312296 | 19 | 373469:373531:373939:374011:374298:374421 | 373939:374011 | ENSG00000105549.6 | ENST00000342640.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for THEG |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_312292 | 19 | 371204:371322:372630:372700:373469:373531 | 372630:372700 | ENSG00000105549.6 | ENST00000342640.4,ENST00000346878.2,ENST00000528213.1 |
exon_skip_312295 | 19 | 372630:372700:373469:373531:373939:374011 | 373469:373531 | ENSG00000105549.6 | ENST00000342640.4,ENST00000528213.1 |
exon_skip_312296 | 19 | 373469:373531:373939:374011:374298:374421 | 373939:374011 | ENSG00000105549.6 | ENST00000342640.4 |
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 THEG |
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 |
ENST00000342640 | 372630 | 372700 | Frame-shift |
ENST00000342640 | 373469 | 373531 | Frame-shift |
ENST00000342640 | 373939 | 374011 | 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 |
ENST00000342640 | 372630 | 372700 | Frame-shift |
ENST00000342640 | 373469 | 373531 | Frame-shift |
ENST00000342640 | 373939 | 374011 | In-frame |
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Infer the effects of exon skipping event on protein functional features for THEG |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
ENST00000342640 | 1343 | 379 | 373939 | 374011 | 475 | 546 | 144 | 167 |
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 |
ENST00000342640 | 1343 | 379 | 373939 | 374011 | 475 | 546 | 144 | 167 |
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 |
Q9P2T0 | 144 | 167 | 145 | 168 | Alternative sequence | ID=VSP_028446;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11173852;Dbxref=PMID:11173852 |
Q9P2T0 | 144 | 167 | 1 | 379 | Chain | ID=PRO_0000306267;Note=Testicular haploid expressed gene protein |
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 |
Q9P2T0 | 144 | 167 | 145 | 168 | Alternative sequence | ID=VSP_028446;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11173852;Dbxref=PMID:11173852 |
Q9P2T0 | 144 | 167 | 1 | 379 | Chain | ID=PRO_0000306267;Note=Testicular haploid expressed gene protein |
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SNVs in the skipped exons for THEG |
- 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-A1EG-01 | exon_skip_312292 | 372631 | 372700 | 372648 | 372648 | Frame_Shift_Del | T | - | p.E206fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_312295 | 373470 | 373531 | 373492 | 373492 | Frame_Shift_Del | G | - | p.T182fs |
DLBC | TCGA-G8-6324-01 | exon_skip_312295 | 373470 | 373531 | 373531 | 373531 | Nonsense_Mutation | C | T | p.W168X |
SKCM | TCGA-GF-A769-01 | exon_skip_312296 | 373940 | 374011 | 374007 | 374007 | Nonsense_Mutation | C | A | p.G146* |
- 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 |
NCIH524_LUNG | 373470 | 373531 | 373471 | 373471 | Splice_Site | G | A | p.P188P |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for THEG |
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 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 |
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 THEG |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |