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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 POU2F3 |
 Gene summary |
| Gene information | Gene symbol | POU2F3 | Gene ID | 25833 |
| Gene name | POU class 2 homeobox 3 | |
| Synonyms | Epoc-1|OCT-11|OCT11|OTF-11|PLA-1|PLA1|Skn-1a | |
| Cytomap | 11q23.3 | |
| Type of gene | protein-coding | |
| Description | POU domain, class 2, transcription factor 3POU domain transcription factor OCT11aoctamer-binding protein 11octamer-binding transcription factor 11transcription factor PLA-1transcription factor Skn-1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9UKI9 | |
| Context | PubMed: POU2F3 [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 |
| POU2F3 | GO:0043922 | negative regulation by host of viral transcription | 14645924 |
| POU2F3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12624109 |
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Exon skipping events across known transcript of Ensembl for POU2F3 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 POU2F3 |
| 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 POU2F3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_65973 | 11 | 120117157:120117226:120139918:120139953:120168973:120169099 | 120139918:120139953 | ENSG00000137709.5 | ENST00000543440.2,ENST00000260264.4,ENST00000533620.1 |
| exon_skip_65974 | 11 | 120170332:120170435:120171751:120171798:120172994:120173077 | 120171751:120171798 | ENSG00000137709.5 | ENST00000533620.1 |
| exon_skip_65975 | 11 | 120172994:120173077:120175738:120175921:120176352:120176494 | 120175738:120175921 | ENSG00000137709.5 | ENST00000543440.2,ENST00000260264.4,ENST00000533620.1 |
| exon_skip_65977 | 11 | 120176352:120176494:120178187:120178324:120180133:120180295 | 120178187:120178324 | ENSG00000137709.5 | ENST00000543440.2,ENST00000260264.4,ENST00000533620.1,ENST00000532638.1 |
| exon_skip_65980 | 11 | 120178187:120178324:120180133:120180295:120186069:120186136 | 120180133:120180295 | ENSG00000137709.5 | ENST00000543440.2,ENST00000260264.4,ENST00000533620.1,ENST00000532638.1 |
| exon_skip_65983 | 11 | 120178187:120178324:120186069:120186136:120187937:120188073 | 120186069:120186136 | ENSG00000137709.5 | ENST00000532663.1 |
| exon_skip_65993 | 11 | 120180133:120180295:120186069:120186136:120187937:120188073 | 120186069:120186136 | ENSG00000137709.5 | ENST00000543440.2,ENST00000260264.4,ENST00000533620.1,ENST00000532638.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for POU2F3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_65973 | 11 | 120117157:120117226:120139918:120139953:120168973:120169099 | 120139918:120139953 | ENSG00000137709.5 | ENST00000260264.4,ENST00000543440.2,ENST00000533620.1 |
| exon_skip_65974 | 11 | 120170332:120170435:120171751:120171798:120172994:120173077 | 120171751:120171798 | ENSG00000137709.5 | ENST00000533620.1 |
| exon_skip_65975 | 11 | 120172994:120173077:120175738:120175921:120176352:120176494 | 120175738:120175921 | ENSG00000137709.5 | ENST00000260264.4,ENST00000543440.2,ENST00000533620.1 |
| exon_skip_65980 | 11 | 120178187:120178324:120180133:120180295:120186069:120186136 | 120180133:120180295 | ENSG00000137709.5 | ENST00000260264.4,ENST00000543440.2,ENST00000533620.1,ENST00000532638.1 |
| exon_skip_65983 | 11 | 120178187:120178324:120186069:120186136:120187937:120188073 | 120186069:120186136 | ENSG00000137709.5 | ENST00000532663.1 |
| exon_skip_65993 | 11 | 120180133:120180295:120186069:120186136:120187937:120188073 | 120186069:120186136 | ENSG00000137709.5 | ENST00000260264.4,ENST00000543440.2,ENST00000533620.1,ENST00000532638.1 |
| 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 POU2F3 |
| 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 |
| ENST00000543440 | 120139918 | 120139953 | Frame-shift |
| ENST00000543440 | 120178187 | 120178324 | Frame-shift |
| ENST00000543440 | 120186069 | 120186136 | Frame-shift |
| ENST00000543440 | 120175738 | 120175921 | In-frame |
| ENST00000543440 | 120180133 | 120180295 | 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 |
| ENST00000543440 | 120139918 | 120139953 | Frame-shift |
| ENST00000543440 | 120186069 | 120186136 | Frame-shift |
| ENST00000543440 | 120175738 | 120175921 | In-frame |
| ENST00000543440 | 120180133 | 120180295 | In-frame |
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Infer the effects of exon skipping event on protein functional features for POU2F3 |
| 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 |
| ENST00000543440 | 1969 | 436 | 120175738 | 120175921 | 595 | 777 | 148 | 209 |
| ENST00000543440 | 1969 | 436 | 120180133 | 120180295 | 1057 | 1218 | 302 | 356 |
| 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 |
| ENST00000543440 | 1969 | 436 | 120175738 | 120175921 | 595 | 777 | 148 | 209 |
| ENST00000543440 | 1969 | 436 | 120180133 | 120180295 | 1057 | 1218 | 302 | 356 |
| 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 |
| Q9UKI9 | 148 | 209 | 1 | 436 | Chain | ID=PRO_0000100717;Note=POU domain%2C class 2%2C transcription factor 3 |
| Q9UKI9 | 148 | 209 | 183 | 257 | Domain | Note=POU-specific;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00530 |
| Q9UKI9 | 148 | 209 | 152 | 152 | Natural variant | ID=VAR_031618;Note=H->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10473598,ECO:0000269|PubMed:14702039,ECO:0000269|Ref.2;Dbxref=dbSNP:rs7110845,PMID:10473598,PMID:14702039 |
| Q9UKI9 | 302 | 356 | 1 | 436 | Chain | ID=PRO_0000100717;Note=POU domain%2C class 2%2C transcription factor 3 |
| Q9UKI9 | 302 | 356 | 354 | 425 | Compositional bias | Note=Ser-rich |
| Q9UKI9 | 302 | 356 | 281 | 340 | DNA binding | Note=Homeobox;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 |
| Q9UKI9 | 302 | 356 | 351 | 351 | Sequence conflict | Note=V->D;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 |
| Q9UKI9 | 148 | 209 | 1 | 436 | Chain | ID=PRO_0000100717;Note=POU domain%2C class 2%2C transcription factor 3 |
| Q9UKI9 | 148 | 209 | 183 | 257 | Domain | Note=POU-specific;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00530 |
| Q9UKI9 | 148 | 209 | 152 | 152 | Natural variant | ID=VAR_031618;Note=H->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10473598,ECO:0000269|PubMed:14702039,ECO:0000269|Ref.2;Dbxref=dbSNP:rs7110845,PMID:10473598,PMID:14702039 |
| Q9UKI9 | 302 | 356 | 1 | 436 | Chain | ID=PRO_0000100717;Note=POU domain%2C class 2%2C transcription factor 3 |
| Q9UKI9 | 302 | 356 | 354 | 425 | Compositional bias | Note=Ser-rich |
| Q9UKI9 | 302 | 356 | 281 | 340 | DNA binding | Note=Homeobox;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 |
| Q9UKI9 | 302 | 356 | 351 | 351 | Sequence conflict | Note=V->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for POU2F3 |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_65975 | 120175739 | 120175921 | 120175902 | 120175902 | Frame_Shift_Del | T | - | p.I205fs |
| STAD | TCGA-VQ-A8DT-01 | exon_skip_65977 | 120178188 | 120178324 | 120178294 | 120178294 | Frame_Shift_Del | C | - | p.I294fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_65980 | 120180134 | 120180295 | 120180154 | 120180154 | Frame_Shift_Del | G | - | p.E312fs |
| READ | TCGA-EI-6917-01 | exon_skip_65973 | 120139919 | 120139953 | 120139927 | 120139927 | Nonsense_Mutation | C | T | p.R36X |
| UCS | TCGA-ND-A4WC-01 | exon_skip_65973 | 120139919 | 120139953 | 120139927 | 120139927 | Nonsense_Mutation | C | T | p.R38* |
| SKCM | TCGA-EE-A29L-06 | exon_skip_65975 | 120175739 | 120175921 | 120175796 | 120175796 | Nonsense_Mutation | C | T | p.Q168X |
| SKCM | TCGA-EE-A29L-06 | exon_skip_65975 | 120175739 | 120175921 | 120175796 | 120175796 | Nonsense_Mutation | C | T | p.Q170* |
| OV | TCGA-24-2281-01 | exon_skip_65980 | 120180134 | 120180295 | 120180221 | 120180221 | Nonsense_Mutation | C | T | p.R334* |
| - 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 |
| NCIH1573_LUNG | 120139919 | 120139953 | 120139939 | 120139939 | Missense_Mutation | G | T | p.D40Y |
| HEC108_ENDOMETRIUM | 120175739 | 120175921 | 120175779 | 120175779 | Missense_Mutation | C | A | p.P162H |
| NCIH2461_PLEURA | 120175739 | 120175921 | 120175811 | 120175811 | Missense_Mutation | C | T | p.P173S |
| NCIH250_LUNG | 120175739 | 120175921 | 120175848 | 120175848 | Missense_Mutation | C | T | p.P185L |
| NCIH1155_LUNG | 120178188 | 120178324 | 120178194 | 120178194 | Missense_Mutation | C | T | p.S259F |
| COLO678_LARGE_INTESTINE | 120178188 | 120178324 | 120178200 | 120178200 | Missense_Mutation | C | T | p.S261L |
| NCIH2087_LUNG | 120178188 | 120178324 | 120178261 | 120178261 | Missense_Mutation | G | T | p.K281N |
| SNUC5_LARGE_INTESTINE | 120180134 | 120180295 | 120180144 | 120180144 | Missense_Mutation | C | A | p.P306H |
| SKMEL3_SKIN | 120180134 | 120180295 | 120180173 | 120180173 | Missense_Mutation | G | A | p.E316K |
| SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 120180134 | 120180295 | 120180183 | 120180183 | Missense_Mutation | C | T | p.S319F |
| CAL51_BREAST | 120180134 | 120180295 | 120180198 | 120180198 | Missense_Mutation | T | C | p.V324A |
| K5_THYROID | 120180134 | 120180295 | 120180201 | 120180201 | Missense_Mutation | T | C | p.V325A |
| TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 120180134 | 120180295 | 120180214 | 120180214 | Missense_Mutation | C | A | p.F329L |
| BEN_LUNG | 120186070 | 120186136 | 120186097 | 120186097 | Missense_Mutation | C | A | p.L366I |
| HS936T_SKIN | 120186070 | 120186136 | 120186122 | 120186122 | Missense_Mutation | C | T | p.T374I |
| NCIH2722_PLEURA | 120186070 | 120186136 | 120186124 | 120186124 | Missense_Mutation | A | G | p.M375V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for POU2F3 |
| 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 POU2F3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for POU2F3 |
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RelatedDrugs for POU2F3 |
| 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 POU2F3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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