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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 PAX4 |
 Gene summary |
| Gene information | Gene symbol | PAX4 | Gene ID | 5078 |
| Gene name | paired box 4 | |
| Synonyms | KPD|MODY9 | |
| Cytomap | 7q32.1 | |
| Type of gene | protein-coding | |
| Description | paired box protein Pax-4paired box gene 4paired domain gene 4 | |
| Modification date | 20180528 | |
| UniProtAcc | O43316 | |
| Context | PubMed: PAX4 [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 PAX4 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 PAX4 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for PAX4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_479376 | 7 | 127251588:127251730:127251998:127252054:127253075:127253145 | 127251998:127252054 | ENSG00000106331.10 | ENST00000463946.1,ENST00000378740.2,ENST00000341640.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PAX4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_479376 | 7 | 127251588:127251730:127251998:127252054:127253075:127253145 | 127251998:127252054 | ENSG00000106331.10 | ENST00000341640.2,ENST00000378740.2,ENST00000463946.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for PAX4 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for PAX4 |
| 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 PAX4 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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 |
| KIRC | TCGA-B0-5102-01 | exon_skip_479376 | 127251999 | 127252054 | 127252007 | 127252007 | Frame_Shift_Del | A | - | p.S247fs |
| - 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 |
| NCIH1435_LUNG | 127251999 | 127252054 | 127252017 | 127252018 | Frame_Shift_Ins | - | A | p.P243fs |
| NCIH1944_LUNG | 127251999 | 127252054 | 127252046 | 127252046 | Missense_Mutation | G | T | p.Q234K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PAX4 |
| 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 PAX4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PAX4 |
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RelatedDrugs for PAX4 |
| 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 PAX4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PAX4 | C0011854 | Diabetes Mellitus, Insulin-Dependent | 1 | CTD_human;UNIPROT |
| PAX4 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human;HPO;ORPHANET;UNIPROT |
| PAX4 | C0025202 | melanoma | 1 | CTD_human |
| PAX4 | C2677132 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder) | 1 | CTD_human;UNIPROT |
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