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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 TOX4 |
Gene summary |
Gene information | Gene symbol | TOX4 | Gene ID | 9878 |
Gene name | TOX high mobility group box family member 4 | |
Synonyms | C14orf92|KIAA0737|LCP1|MIG7 | |
Cytomap | 14q11.2 | |
Type of gene | protein-coding | |
Description | TOX high mobility group box family member 4epidermal Langerhans cell protein LCP1migration-inducing protein 7 | |
Modification date | 20180522 | |
UniProtAcc | O94842 | |
Context | PubMed: TOX4 [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 TOX4 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 TOX4 |
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 TOX4 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_105119 | 14 | 21945396:21945443:21945654:21945723:21955609:21955761 | 21945654:21945723 | ENSG00000092203.9 | ENST00000262709.3,ENST00000494242.1,ENST00000405508.1,ENST00000476180.1,ENST00000455393.1 |
exon_skip_105120 | 14 | 21945396:21945443:21945654:21945751:21955609:21955761 | 21945654:21945751 | ENSG00000092203.9 | ENST00000455138.1 |
exon_skip_105121 | 14 | 21945654:21945723:21950710:21950770:21955609:21955761 | 21950710:21950770 | ENSG00000092203.9 | ENST00000447695.1 |
exon_skip_105123 | 14 | 21957331:21957562:21960454:21960535:21960666:21960765 | 21960454:21960535 | ENSG00000092203.9 | ENST00000448790.2,ENST00000262709.3,ENST00000473176.1,ENST00000405508.1,ENST00000476180.1,ENST00000455393.1 |
exon_skip_105125 | 14 | 21960666:21961416:21963387:21963551:21964703:21964913 | 21963387:21963551 | ENSG00000092203.9 | ENST00000448790.2,ENST00000262709.3,ENST00000405508.1,ENST00000455393.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TOX4 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_105119 | 14 | 21945396:21945443:21945654:21945723:21955609:21955761 | 21945654:21945723 | ENSG00000092203.9 | ENST00000405508.1,ENST00000262709.3,ENST00000476180.1,ENST00000455393.1,ENST00000494242.1 |
exon_skip_105120 | 14 | 21945396:21945443:21945654:21945751:21955609:21955761 | 21945654:21945751 | ENSG00000092203.9 | ENST00000455138.1 |
exon_skip_105121 | 14 | 21945654:21945723:21950710:21950770:21955609:21955761 | 21950710:21950770 | ENSG00000092203.9 | ENST00000447695.1 |
exon_skip_105123 | 14 | 21957331:21957562:21960454:21960535:21960666:21960765 | 21960454:21960535 | ENSG00000092203.9 | ENST00000405508.1,ENST00000262709.3,ENST00000476180.1,ENST00000455393.1,ENST00000448790.2,ENST00000473176.1 |
exon_skip_105125 | 14 | 21960666:21961416:21963387:21963551:21964703:21964913 | 21963387:21963551 | ENSG00000092203.9 | ENST00000405508.1,ENST00000262709.3,ENST00000455393.1,ENST00000448790.2 |
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 TOX4 |
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 |
ENST00000448790 | 21963387 | 21963551 | Frame-shift |
ENST00000448790 | 21960454 | 21960535 | 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 |
ENST00000448790 | 21963387 | 21963551 | Frame-shift |
ENST00000448790 | 21960454 | 21960535 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TOX4 |
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 |
ENST00000448790 | 2034 | 621 | 21960454 | 21960535 | 797 | 877 | 247 | 274 |
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 |
ENST00000448790 | 2034 | 621 | 21960454 | 21960535 | 797 | 877 | 247 | 274 |
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 |
O94842 | 247 | 274 | 1 | 621 | Chain | ID=PRO_0000048568;Note=TOX high mobility group box family member 4 |
O94842 | 247 | 274 | 223 | 291 | DNA binding | Note=HMG box;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00267 |
O94842 | 247 | 274 | 271 | 271 | Sequence conflict | Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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 |
O94842 | 247 | 274 | 1 | 621 | Chain | ID=PRO_0000048568;Note=TOX high mobility group box family member 4 |
O94842 | 247 | 274 | 223 | 291 | DNA binding | Note=HMG box;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00267 |
O94842 | 247 | 274 | 271 | 271 | Sequence conflict | Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for TOX4 |
- 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 |
HNSC | TCGA-CN-4728-01 | exon_skip_105125 | 21963388 | 21963551 | 21963465 | 21963466 | Frame_Shift_Ins | - | A | p.V573fs |
HNSC | TCGA-CN-4728-01 | exon_skip_105125 | 21963388 | 21963551 | 21963465 | 21963466 | Frame_Shift_Ins | - | A | p.V574fs |
BRCA | TCGA-E9-A228-01 | exon_skip_105125 | 21963388 | 21963551 | 21963403 | 21963403 | Nonsense_Mutation | C | T | p.Q553* |
COAD | TCGA-D5-6930-01 | exon_skip_105125 | 21963388 | 21963551 | 21963446 | 21963446 | Nonsense_Mutation | C | A | p.S567X |
COAD | TCGA-G4-6586-01 | exon_skip_105125 | 21963388 | 21963551 | 21963387 | 21963387 | Splice_Site | 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 |
HKA1_SKIN | 21963388 | 21963551 | 21963398 | 21963400 | In_Frame_Del | CTT | - | p.S552del |
TFK1_BILIARY_TRACT | 21963388 | 21963551 | 21963398 | 21963400 | In_Frame_Del | CTT | - | p.S552del |
HMC18_BREAST | 21963388 | 21963551 | 21963398 | 21963400 | In_Frame_Del | CTT | - | p.S552del |
MOLM16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21963388 | 21963551 | 21963398 | 21963400 | In_Frame_Del | CTT | - | p.S552del |
OVTOKO_OVARY | 21963388 | 21963551 | 21963398 | 21963400 | In_Frame_Del | CTT | - | p.S552del |
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21963388 | 21963551 | 21963398 | 21963400 | In_Frame_Del | CTT | - | p.S552del |
QGP1_PANCREAS | 21963388 | 21963551 | 21963398 | 21963400 | In_Frame_Del | CTT | - | p.S552del |
NO11_CENTRAL_NERVOUS_SYSTEM | 21963388 | 21963551 | 21963398 | 21963400 | In_Frame_Del | CTT | - | p.S552del |
YD8_UPPER_AERODIGESTIVE_TRACT | 21945655 | 21945751 | 21945657 | 21945657 | Missense_Mutation | T | A | p.F3L |
YD8_UPPER_AERODIGESTIVE_TRACT | 21945655 | 21945723 | 21945657 | 21945657 | Missense_Mutation | T | A | p.F3L |
SNU1_STOMACH | 21963388 | 21963551 | 21963454 | 21963454 | Missense_Mutation | C | T | p.P570S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TOX4 |
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 TOX4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TOX4 |
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RelatedDrugs for TOX4 |
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 TOX4 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |