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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for NUP214 |
 Gene summary |
| Gene information | Gene symbol | NUP214 | Gene ID | 8021 |
| Gene name | nucleoporin 214 | |
| Synonyms | CAIN|CAN|IIAE9 | |
| Cytomap | 9q34.13 | |
| Type of gene | protein-coding | |
| Description | nuclear pore complex protein Nup214CAN protein, putative oncogenenucleoporin 214kDa | |
| Modification date | 20200322 | |
| UniProtAcc | A0A024R8B6, A0A0A0MSW3, A0A494BZU9, A0A494C0J0, | |
| Context |
| 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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Gene structures and expression levels for NUP214 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000126883
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000528406.1 | NUP214-219:protein_coding:NUP214 | 8.717131e+00 | -1.638107e+00 | 1.381581e-08 | 3.966852e-07 |
| CB | DOWN | ENST00000476004.5 | NUP214-207:protein_coding:NUP214 | 1.335602e+01 | -1.564527e+00 | 7.225099e-07 | 1.136210e-05 |
| CB | DOWN | ENST00000650694.1 | NUP214-228:nonsense_mediated_decay:NUP214 | 9.203206e+01 | -1.083044e+00 | 4.887296e-06 | 5.744440e-05 |
| CB | DOWN | ENST00000498010.2 | NUP214-211:protein_coding:NUP214 | 1.143746e+01 | -1.346792e+00 | 4.577683e-05 | 3.816625e-04 |
| CB | UP | ENST00000651022.1 | NUP214-229:protein_coding:NUP214 | 2.930230e+00 | 3.027399e+00 | 2.497452e-03 | 1.108059e-02 |
| TC | DOWN | ENST00000476004.5 | NUP214-207:protein_coding:NUP214 | 1.456308e+01 | -1.376743e+00 | 1.541537e-05 | 3.661043e-04 |
| TC | DOWN | ENST00000528406.1 | NUP214-219:protein_coding:NUP214 | 8.916349e+00 | -8.293437e-01 | 1.207260e-03 | 1.142446e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NUP214 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_123871 | chr9 | 131192208:131192292:131195233:131195294:131197216:131197330 | 131195233:131195294 |
| exon_skip_127461 | chr9 | 131175460:131175621:131178311:131178410:131187289:131187364 | 131178311:131178410 |
| exon_skip_134810 | chr9 | 131187358:131187364:131189053:131189131:131195233:131195294 | 131189053:131189131 |
| exon_skip_153664 | chr9 | 131178311:131178410:131189053:131189131:131192208:131192292 | 131189053:131189131 |
| exon_skip_156723 | chr9 | 131135988:131136006:131139281:131139407:131140549:131140710 | 131139281:131139407 |
| exon_skip_172597 | chr9 | 131134898:131135004:131135940:131136006:131139281:131139349 | 131135940:131136006 |
| exon_skip_187712 | chr9 | 131201647:131201717:131215212:131215368:131222778:131222930 | 131215212:131215368 |
| exon_skip_188802 | chr9 | 131189053:131189131:131195233:131195294:131197216:131197330 | 131195233:131195294 |
| exon_skip_198728 | chr9 | 131230630:131230769:131232284:131232308:131233454:131233707 | 131232284:131232308 |
| exon_skip_20590 | chr9 | 131187358:131187364:131189053:131189131:131192208:131192292 | 131189053:131189131 |
| exon_skip_22731 | chr9 | 131151736:131151894:131159383:131159486:131162991:131163173 | 131159383:131159486 |
| exon_skip_238542 | chr9 | 131146129:131146304:131147487:131147584:131150324:131150410 | 131147487:131147584 |
| exon_skip_254747 | chr9 | 131178311:131178410:131187289:131187364:131189053:131189131 | 131187289:131187364 |
| exon_skip_2697 | chr9 | 131178349:131178410:131187289:131187364:131189053:131189131 | 131187289:131187364 |
| exon_skip_30753 | chr9 | 131230630:131230769:131232284:131232308:131233454:131233501 | 131232284:131232308 |
| exon_skip_49219 | chr9 | 131146129:131146304:131147490:131147584:131150324:131150410 | 131147490:131147584 |
| exon_skip_50196 | chr9 | 131230630:131230769:131232162:131232308:131233454:131233501 | 131232162:131232308 |
| exon_skip_55835 | chr9 | 131178349:131178410:131189053:131189131:131192208:131192292 | 131189053:131189131 |
| exon_skip_62074 | chr9 | 131198452:131199015:131201647:131201717:131215212:131215368 | 131201647:131201717 |
| exon_skip_77510 | chr9 | 131192208:131192292:131195233:131195294:131197216:131197843 | 131195233:131195294 |
| exon_skip_95914 | chr9 | 131189053:131189131:131192208:131192292:131195233:131195294 | 131192208:131192292 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for NUP214 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000359428 | 131135940 | 131136006 | Frame-shift |
| ENST00000359428 | 131147490 | 131147584 | Frame-shift |
| ENST00000359428 | 131187289 | 131187364 | Frame-shift |
| ENST00000359428 | 131189053 | 131189131 | Frame-shift |
| ENST00000359428 | 131192208 | 131192292 | Frame-shift |
| ENST00000359428 | 131195233 | 131195294 | Frame-shift |
| ENST00000359428 | 131201647 | 131201717 | Frame-shift |
| ENST00000359428 | 131215212 | 131215368 | Frame-shift |
| ENST00000359428 | 131232284 | 131232308 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000359428 | 131147490 | 131147584 | Frame-shift |
| ENST00000359428 | 131187289 | 131187364 | Frame-shift |
| ENST00000359428 | 131232284 | 131232308 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000359428 | 131139281 | 131139407 | Frame-shift |
| ENST00000359428 | 131159383 | 131159486 | Frame-shift |
| ENST00000359428 | 131178311 | 131178410 | Frame-shift |
| ENST00000359428 | 131187289 | 131187364 | Frame-shift |
| ENST00000359428 | 131189053 | 131189131 | Frame-shift |
| ENST00000359428 | 131192208 | 131192292 | Frame-shift |
| ENST00000359428 | 131195233 | 131195294 | Frame-shift |
| ENST00000359428 | 131201647 | 131201717 | Frame-shift |
| ENST00000359428 | 131215212 | 131215368 | Frame-shift |
| ENST00000359428 | 131232284 | 131232308 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for NUP214 |
p-ENSG00000126883_img4.png |
| Loci of skipped exons in ROSMAP 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 MSBB 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 Mayo 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 ROSMAP. |
| 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 MSBB. |
| 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 Mayo. |
| 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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3'-UTR located exon skipping events that lost miRNA binding sites in NUP214 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for NUP214 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for NUP214 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NUP214 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for NUP214 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for NUP214 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NUP214 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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