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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 POU5F1 |
 Gene summary |
| Gene information | Gene symbol | POU5F1 | Gene ID | 5460 |
| Gene name | POU class 5 homeobox 1 | |
| Synonyms | OCT3|OCT4|OTF-3|OTF3|OTF4|Oct-3|Oct-4 | |
| Cytomap | 6p21.33 | |
| Type of gene | protein-coding | |
| Description | POU domain, class 5, transcription factor 1POU class 5 homeobox 1 transcript variant OCT4B1POU class 5 homeobox 1 transcript variant OCT4B2POU class 5 homeobox 1 transcript variant OCT4B3POU class 5 homeobox 1 transcript variant OCT4B4POU class 5 hom | |
| Modification date | 20180527 | |
| UniProtAcc | Q01860 | |
| Context | PubMed: POU5F1 [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 |
| POU5F1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 19409607 |
| POU5F1 | GO:0001714 | endodermal cell fate specification | 20713518 |
| POU5F1 | GO:0006355 | regulation of transcription, DNA-templated | 16153702 |
| POU5F1 | GO:0035019 | somatic stem cell population maintenance | 19409607 |
| POU5F1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20713518 |
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Exon skipping events across known transcript of Ensembl for POU5F1 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 POU5F1 |
| 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 POU5F1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_457361 | 6 | 31132128:31132644:31132904:31133063:31133347:31133478 | 31132904:31133063 | ENSG00000204531.11 | ENST00000441888.3,ENST00000513407.1,ENST00000259915.8,ENST00000512818.1,ENST00000606567.1,ENST00000471529.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for POU5F1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_457361 | 6 | 31132128:31132644:31132904:31133063:31133347:31133478 | 31132904:31133063 | ENSG00000204531.11 | ENST00000441888.3,ENST00000259915.8,ENST00000512818.1,ENST00000606567.1,ENST00000513407.1,ENST00000471529.2 |
| 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 POU5F1 |
| 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 POU5F1 |
| 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 POU5F1 |
| - 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 |
| THYM | TCGA-XU-AAXY-01 | exon_skip_457361 | 31132905 | 31133063 | 31132913 | 31132913 | Nonsense_Mutation | C | A | p.E270X |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_457361 | 31132905 | 31133063 | 31132949 | 31132949 | Nonsense_Mutation | G | A | p.Q258* |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_457361 | 31132905 | 31133063 | 31132949 | 31132949 | Nonsense_Mutation | G | A | p.Q258X |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_457361 | 31132905 | 31133063 | 31132949 | 31132949 | Nonsense_Mutation | G | A | p.Q62* |
| - 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 |
| NCIH1395_LUNG | 31132905 | 31133063 | 31132955 | 31132956 | Frame_Shift_Ins | - | C | p.T256fs |
| HT29_LARGE_INTESTINE | 31132905 | 31133063 | 31132942 | 31132942 | Missense_Mutation | A | G | p.I260T |
| TGW_AUTONOMIC_GANGLIA | 31132905 | 31133063 | 31132968 | 31132968 | Missense_Mutation | C | A | p.Q251H |
| SNU175_LARGE_INTESTINE | 31132905 | 31133063 | 31133009 | 31133009 | Missense_Mutation | C | T | p.E238K |
| LIM1215_LARGE_INTESTINE | 31132905 | 31133063 | 31132970 | 31132970 | Nonsense_Mutation | G | A | p.Q251* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for POU5F1 |
| 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 POU5F1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for POU5F1 |
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RelatedDrugs for POU5F1 |
| 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 POU5F1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| POU5F1 | C0018798 | Congenital Heart Defects | 1 | CTD_human |
| POU5F1 | C0027658 | Neoplasms, Germ Cell and Embryonal | 1 | CTD_human |
| POU5F1 | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
| POU5F1 | C2931618 | Gestational trophoblastic disease | 1 | CTD_human |
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