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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 POU6F2 |
 Gene summary |
| Gene information | Gene symbol | POU6F2 | Gene ID | 11281 |
| Gene name | POU class 6 homeobox 2 | |
| Synonyms | RPF-1|WT5|WTSL | |
| Cytomap | 7p14.1 | |
| Type of gene | protein-coding | |
| Description | POU domain, class 6, transcription factor 2Wilms tumor suppressor locusretina-derived POU-domain factor-1 | |
| Modification date | 20180403 | |
| UniProtAcc | P78424 | |
| Context | PubMed: POU6F2 [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 POU6F2 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 POU6F2 |
| 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 POU6F2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_465468 | 7 | 39125460:39125631:39243833:39243925:39246990:39247139 | 39243833:39243925 | ENSG00000106536.15 | ENST00000559001.1,ENST00000451021.1,ENST00000518318.2,ENST00000520104.1,ENST00000517348.1,ENST00000403058.1,ENST00000524147.1 |
| exon_skip_465471 | 7 | 39246990:39247219:39379240:39379614:39472675:39472882 | 39379240:39379614 | ENSG00000106536.15 | ENST00000559001.1,ENST00000524147.1 |
| exon_skip_465472 | 7 | 39379240:39379614:39446198:39446339:39472675:39472882 | 39446198:39446339 | ENSG00000106536.15 | ENST00000518318.2,ENST00000520104.1,ENST00000403058.1 |
| exon_skip_465474 | 7 | 39472675:39472882:39491131:39491300:39500145:39500314 | 39491131:39491300 | ENSG00000106536.15 | ENST00000559001.1,ENST00000518318.2,ENST00000403058.1 |
| exon_skip_465475 | 7 | 39472675:39472882:39500145:39500314:39503780:39504309 | 39500145:39500314 | ENSG00000106536.15 | ENST00000416452.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for POU6F2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_465471 | 7 | 39246990:39247219:39379240:39379614:39472675:39472882 | 39379240:39379614 | ENSG00000106536.15 | ENST00000524147.1,ENST00000559001.1 |
| exon_skip_465472 | 7 | 39379240:39379614:39446198:39446339:39472675:39472882 | 39446198:39446339 | ENSG00000106536.15 | ENST00000403058.1,ENST00000518318.2,ENST00000520104.1 |
| exon_skip_465474 | 7 | 39472675:39472882:39491131:39491300:39500145:39500314 | 39491131:39491300 | ENSG00000106536.15 | ENST00000403058.1,ENST00000518318.2,ENST00000559001.1 |
| exon_skip_465475 | 7 | 39472675:39472882:39500145:39500314:39503780:39504309 | 39500145:39500314 | ENSG00000106536.15 | ENST00000416452.1 |
| 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 POU6F2 |
| 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 |
| ENST00000403058 | 39243833 | 39243925 | Frame-shift |
| ENST00000403058 | 39491131 | 39491300 | Frame-shift |
| ENST00000403058 | 39446198 | 39446339 | 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 |
| ENST00000403058 | 39491131 | 39491300 | Frame-shift |
| ENST00000403058 | 39446198 | 39446339 | In-frame |
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Infer the effects of exon skipping event on protein functional features for POU6F2 |
| 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 |
| ENST00000403058 | 2352 | 691 | 39446198 | 39446339 | 1040 | 1180 | 295 | 342 |
| 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 |
| ENST00000403058 | 2352 | 691 | 39446198 | 39446339 | 1040 | 1180 | 295 | 342 |
| 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 |
| P78424 | 295 | 342 | 1 | 691 | Chain | ID=PRO_0000100762;Note=POU domain%2C class 6%2C transcription factor 2 |
| P78424 | 295 | 342 | 167 | 446 | Compositional bias | Note=Gln-rich |
| 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 |
| P78424 | 295 | 342 | 1 | 691 | Chain | ID=PRO_0000100762;Note=POU domain%2C class 6%2C transcription factor 2 |
| P78424 | 295 | 342 | 167 | 446 | Compositional bias | Note=Gln-rich |
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SNVs in the skipped exons for POU6F2 |
| - 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_465471 | 39379241 | 39379614 | 39379486 | 39379486 | Frame_Shift_Del | C | - | p.P253fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_465471 | 39379241 | 39379614 | 39379542 | 39379542 | Frame_Shift_Del | C | - | p.S271fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_465475 | 39500146 | 39500314 | 39500213 | 39500213 | Frame_Shift_Del | T | - | p.A490fs |
| UCEC | TCGA-BG-A0M3-01 | exon_skip_465468 | 39243834 | 39243925 | 39243900 | 39243901 | Frame_Shift_Ins | - | C | p.H86fs |
| UCEC | TCGA-BG-A0M9-01 | exon_skip_465468 | 39243834 | 39243925 | 39243900 | 39243901 | Frame_Shift_Ins | - | C | p.H86fs |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_465471 | 39379241 | 39379614 | 39379541 | 39379542 | Frame_Shift_Ins | - | C | p.S271fs |
| UCEC | TCGA-BG-A0M3-01 | exon_skip_465471 | 39379241 | 39379614 | 39379541 | 39379542 | Frame_Shift_Ins | - | C | p.S271fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_465475 | 39500146 | 39500314 | 39500207 | 39500208 | Frame_Shift_Ins | - | A | p.S489fs |
| SKCM | TCGA-EE-A2MF-06 | exon_skip_465468 | 39243834 | 39243925 | 39243878 | 39243878 | Nonsense_Mutation | C | T | p.Q79* |
| SKCM | TCGA-D3-A3MR-06 | exon_skip_465471 | 39379241 | 39379614 | 39379267 | 39379267 | Nonsense_Mutation | C | T | p.Q180* |
| SKCM | TCGA-D3-A3MR-06 | exon_skip_465471 | 39379241 | 39379614 | 39379267 | 39379267 | Nonsense_Mutation | C | T | p.Q180X |
| SKCM | TCGA-EE-A2A2-06 | exon_skip_465471 | 39379241 | 39379614 | 39379267 | 39379267 | Nonsense_Mutation | C | T | p.Q180* |
| SKCM | TCGA-EE-A2A2-06 | exon_skip_465471 | 39379241 | 39379614 | 39379267 | 39379267 | Nonsense_Mutation | C | T | p.Q180X |
| SKCM | TCGA-WE-A8K1-06 | exon_skip_465471 | 39379241 | 39379614 | 39379267 | 39379267 | Nonsense_Mutation | C | T | p.Q180* |
| COAD | TCGA-CA-6717-01 | exon_skip_465471 | 39379241 | 39379614 | 39379456 | 39379456 | Nonsense_Mutation | C | T | p.Q243X |
| SKCM | TCGA-D3-A8GI-06 | exon_skip_465471 | 39379241 | 39379614 | 39379528 | 39379528 | Nonsense_Mutation | C | T | p.Q267* |
| CESC | TCGA-FU-A5XV-01 | exon_skip_465472 | 39446199 | 39446339 | 39446223 | 39446223 | Nonsense_Mutation | C | T | p.Q304* |
| HNSC | TCGA-D6-A6EN-01 | exon_skip_465475 | 39500146 | 39500314 | 39500196 | 39500196 | Nonsense_Mutation | C | T | p.R485* |
| BLCA | TCGA-GV-A3JZ-01 | exon_skip_465475 | 39500146 | 39500314 | 39500145 | 39500145 | Splice_Site | G | A | p.N468_splice |
| LUAD | TCGA-05-4410-01 | exon_skip_465475 | 39500146 | 39500314 | 39500316 | 39500316 | Splice_Site | T | A | p.R524_splice |
| - 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 |
| KYSE140_OESOPHAGUS | 39379241 | 39379614 | 39379462 | 39379467 | In_Frame_Del | GCGCCT | - | p.AP245del |
| NCIH650_LUNG | 39243834 | 39243925 | 39243885 | 39243885 | Missense_Mutation | A | T | p.Q81L |
| YD38_UPPER_AERODIGESTIVE_TRACT | 39243834 | 39243925 | 39243903 | 39243903 | Missense_Mutation | C | T | p.P87L |
| HCC1500_BREAST | 39243834 | 39243925 | 39243914 | 39243914 | Missense_Mutation | G | T | p.V91F |
| SNU1040_LARGE_INTESTINE | 39243834 | 39243925 | 39243915 | 39243915 | Missense_Mutation | T | C | p.V91A |
| HCC2450_LUNG | 39379241 | 39379614 | 39379247 | 39379247 | Missense_Mutation | C | T | p.S173L |
| MV411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39379241 | 39379614 | 39379285 | 39379285 | Missense_Mutation | C | T | p.L186F |
| EVSAT_BREAST | 39379241 | 39379614 | 39379286 | 39379287 | Missense_Mutation | TC | AG | p.L186Q |
| HCC1395_BREAST | 39379241 | 39379614 | 39379338 | 39379338 | Missense_Mutation | G | C | p.Q203H |
| GP5D_LARGE_INTESTINE | 39379241 | 39379614 | 39379340 | 39379340 | Missense_Mutation | A | T | p.H204L |
| SCC4_UPPER_AERODIGESTIVE_TRACT | 39379241 | 39379614 | 39379373 | 39379373 | Missense_Mutation | C | A | p.S215Y |
| IGROV1_OVARY | 39379241 | 39379614 | 39379385 | 39379385 | Missense_Mutation | C | T | p.P219L |
| CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39379241 | 39379614 | 39379396 | 39379396 | Missense_Mutation | A | C | p.T223P |
| EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39379241 | 39379614 | 39379396 | 39379396 | Missense_Mutation | A | C | p.T223P |
| PCI4B_UPPER_AERODIGESTIVE_TRACT | 39379241 | 39379614 | 39379396 | 39379396 | Missense_Mutation | A | C | p.T223P |
| NCIH2172_LUNG | 39379241 | 39379614 | 39379406 | 39379406 | Missense_Mutation | A | T | p.Q226L |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39379241 | 39379614 | 39379414 | 39379414 | Missense_Mutation | C | T | p.P229S |
| PACADD137_PANCREAS | 39379241 | 39379614 | 39379420 | 39379420 | Missense_Mutation | G | A | p.A231T |
| HT115_LARGE_INTESTINE | 39379241 | 39379614 | 39379432 | 39379432 | Missense_Mutation | C | T | p.P235S |
| KYSE410_OESOPHAGUS | 39379241 | 39379614 | 39379450 | 39379450 | Missense_Mutation | C | A | p.Q241K |
| SNU1040_LARGE_INTESTINE | 39379241 | 39379614 | 39379520 | 39379520 | Missense_Mutation | C | T | p.S264F |
| LS513_LARGE_INTESTINE | 39379241 | 39379614 | 39379573 | 39379573 | Missense_Mutation | C | A | p.H282N |
| D502MG_CENTRAL_NERVOUS_SYSTEM | 39379241 | 39379614 | 39379595 | 39379595 | Missense_Mutation | C | T | p.T289M |
| NCIH358_LUNG | 39446199 | 39446339 | 39446226 | 39446226 | Missense_Mutation | G | T | p.A305S |
| NCIH187_LUNG | 39491132 | 39491300 | 39491294 | 39491294 | Missense_Mutation | G | A | p.V466I |
| FADU_UPPER_AERODIGESTIVE_TRACT | 39500146 | 39500314 | 39500161 | 39500161 | Missense_Mutation | C | T | p.A473V |
| CW2_LARGE_INTESTINE | 39500146 | 39500314 | 39500161 | 39500161 | Missense_Mutation | C | T | p.A473V |
| KP2_PANCREAS | 39500146 | 39500314 | 39500205 | 39500205 | Missense_Mutation | G | T | p.A488S |
| SNU407_LARGE_INTESTINE | 39500146 | 39500314 | 39500224 | 39500224 | Missense_Mutation | G | A | p.R494Q |
| HEC108_ENDOMETRIUM | 39500146 | 39500314 | 39500277 | 39500277 | Missense_Mutation | A | G | p.T512A |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39500146 | 39500314 | 39500290 | 39500290 | Missense_Mutation | C | T | p.A516V |
| VMRCLCD_LUNG | 39500146 | 39500314 | 39500293 | 39500293 | Missense_Mutation | A | C | p.Y517S |
| SW620_LARGE_INTESTINE | 39379241 | 39379614 | 39379336 | 39379336 | Nonsense_Mutation | C | T | p.Q203* |
| DMS454_LUNG | 39500146 | 39500314 | 39500302 | 39500302 | Nonsense_Mutation | C | A | p.S520* |
| NB14_AUTONOMIC_GANGLIA | 39243834 | 39243925 | 39243925 | 39243925 | Splice_Site | G | A | p.Q94Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for POU6F2 |
| 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 POU6F2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for POU6F2 |
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RelatedDrugs for POU6F2 |
| 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 POU6F2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| POU6F2 | C0004352 | Autistic Disorder | 1 | CTD_human |
| POU6F2 | C1832099 | Wilms tumor and radial bilateral aplasia | 1 | CTD_human;UNIPROT |
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