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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 KPNB1 |
 Gene summary |
| Gene information | Gene symbol | KPNB1 | Gene ID | 3837 |
| Gene name | karyopherin subunit beta 1 | |
| Synonyms | IMB1|IPO1|IPOB|Impnb|NTF97 | |
| Cytomap | 17q21.32 | |
| Type of gene | protein-coding | |
| Description | importin subunit beta-1PTAC97importin 1importin 90importin beta-1 subunitkaryopherin (importin) beta 1nuclear factor p97pore targeting complex 97 kDa subunit | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| KPNB1 | GO:0006606 | protein import into nucleus | 7615630|15964792 |
| KPNB1 | GO:0006610 | ribosomal protein import into nucleus | 9687515 |
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Gene structures and expression levels for KPNB1 |
| 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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ENSG00000108424
| 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 | UP | ENST00000578718.1 | KPNB1-206:lncRNA:KPNB1 | 1.632682e+00 | 1.142282e+00 | 8.146339e-03 | 2.938268e-02 |
| CB | UP | ENST00000577918.5 | KPNB1-205:lncRNA:KPNB1 | 3.668144e+00 | 1.265630e+00 | 1.142616e-02 | 3.877650e-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 KPNB1 |
| 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_18353 | chr17 | 47673089:47673165:47673490:47673561:47674638:47674755 | 47673490:47673561 |
| exon_skip_228391 | chr17 | 47661119:47661178:47663089:47663178:47668186:47668410 | 47663089:47663178 |
| exon_skip_246399 | chr17 | 47668365:47668410:47669678:47669869:47670702:47670832 | 47669678:47669869 |
| exon_skip_259298 | chr17 | 47678046:47678189:47678308:47678413:47680020:47680134 | 47678308:47678413 |
| exon_skip_279042 | chr17 | 47652694:47652876:47656860:47657060:47658508:47658641 | 47656860:47657060 |
| 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 KPNB1 |
| 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 |
| ENST00000290158 | 47678308 | 47678413 | Frame-shift |
| ENST00000290158 | 47656860 | 47657060 | In-frame |
| ENST00000290158 | 47673490 | 47673561 | In-frame |
| 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 |
| ENST00000290158 | 47673490 | 47673561 | In-frame |
| 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 |
| ENST00000290158 | 47678308 | 47678413 | Frame-shift |
| ENST00000290158 | 47656860 | 47657060 | In-frame |
| ENST00000290158 | 47669678 | 47669869 | In-frame |
| ENST00000290158 | 47673490 | 47673561 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KPNB1 |
p-ENSG00000108424_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 |
| ENST00000290158 | 6156 | 876 | 47656860 | 47657060 | 691 | 890 | 94 | 161 |
| ENST00000290158 | 6156 | 876 | 47673490 | 47673561 | 2104 | 2174 | 565 | 589 |
| 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 |
| ENST00000290158 | 6156 | 876 | 47673490 | 47673561 | 2104 | 2174 | 565 | 589 |
| 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 |
| ENST00000290158 | 6156 | 876 | 47656860 | 47657060 | 691 | 890 | 94 | 161 |
| ENST00000290158 | 6156 | 876 | 47669678 | 47669869 | 1633 | 1823 | 408 | 472 |
| ENST00000290158 | 6156 | 876 | 47673490 | 47673561 | 2104 | 2174 | 565 | 589 |
| 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 |
| Q14974 | 94 | 161 | 1 | 145 | Alternative sequence | ID=VSP_054612;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q14974 | 94 | 161 | 104 | 106 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IBR |
| Q14974 | 94 | 161 | 1 | 876 | Chain | ID=PRO_0000120745;Note=Importin subunit beta-1 |
| Q14974 | 94 | 161 | 21 | 101 | Domain | Note=Importin N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00115 |
| Q14974 | 94 | 161 | 85 | 98 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IBR |
| Q14974 | 94 | 161 | 109 | 120 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IBR |
| Q14974 | 94 | 161 | 121 | 123 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IBR |
| Q14974 | 94 | 161 | 129 | 138 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IBR |
| Q14974 | 94 | 161 | 144 | 160 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IBR |
| Q14974 | 94 | 161 | 85 | 123 | Repeat | Note=HEAT 3;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10353244,ECO:0000269|PubMed:10367892;Dbxref=PMID:10353244,PMID:10367892 |
| Q14974 | 94 | 161 | 129 | 160 | Repeat | Note=HEAT 4;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10353244,ECO:0000269|PubMed:10367892;Dbxref=PMID:10353244,PMID:10367892 |
| Q14974 | 94 | 161 | 97 | 97 | Sequence conflict | Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q14974 | 94 | 161 | 99 | 101 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1QGR |
| Q14974 | 565 | 589 | 1 | 876 | Chain | ID=PRO_0000120745;Note=Importin subunit beta-1 |
| Q14974 | 565 | 589 | 573 | 592 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1QGR |
| Q14974 | 565 | 589 | 544 | 592 | Repeat | Note=HEAT 13;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10353244;Dbxref=PMID:10353244 |
| Q14974 | 565 | 589 | 563 | 566 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1QGR |
| 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 |
| Q14974 | 565 | 589 | 1 | 876 | Chain | ID=PRO_0000120745;Note=Importin subunit beta-1 |
| Q14974 | 565 | 589 | 573 | 592 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1QGR |
| Q14974 | 565 | 589 | 544 | 592 | Repeat | Note=HEAT 13;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10353244;Dbxref=PMID:10353244 |
| Q14974 | 565 | 589 | 563 | 566 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1QGR |
| 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 |
| Q14974 | 94 | 161 | 1 | 145 | Alternative sequence | ID=VSP_054612;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q14974 | 94 | 161 | 104 | 106 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IBR |
| Q14974 | 94 | 161 | 1 | 876 | Chain | ID=PRO_0000120745;Note=Importin subunit beta-1 |
| Q14974 | 94 | 161 | 21 | 101 | Domain | Note=Importin N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00115 |
| Q14974 | 94 | 161 | 85 | 98 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IBR |
| Q14974 | 94 | 161 | 109 | 120 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IBR |
| Q14974 | 94 | 161 | 121 | 123 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IBR |
| Q14974 | 94 | 161 | 129 | 138 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IBR |
| Q14974 | 94 | 161 | 144 | 160 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IBR |
| Q14974 | 94 | 161 | 85 | 123 | Repeat | Note=HEAT 3;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10353244,ECO:0000269|PubMed:10367892;Dbxref=PMID:10353244,PMID:10367892 |
| Q14974 | 94 | 161 | 129 | 160 | Repeat | Note=HEAT 4;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10353244,ECO:0000269|PubMed:10367892;Dbxref=PMID:10353244,PMID:10367892 |
| Q14974 | 94 | 161 | 97 | 97 | Sequence conflict | Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q14974 | 94 | 161 | 99 | 101 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1QGR |
| Q14974 | 408 | 472 | 1 | 876 | Chain | ID=PRO_0000120745;Note=Importin subunit beta-1 |
| Q14974 | 408 | 472 | 409 | 415 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IBR |
| Q14974 | 408 | 472 | 416 | 418 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IBR |
| Q14974 | 408 | 472 | 422 | 438 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IBR |
| Q14974 | 408 | 472 | 439 | 442 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IBR |
| Q14974 | 408 | 472 | 449 | 457 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IBR |
| Q14974 | 408 | 472 | 464 | 483 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1QGR |
| Q14974 | 408 | 472 | 334 | 419 | Region | Note=Ran-GTP binding |
| Q14974 | 408 | 472 | 402 | 438 | Repeat | Note=HEAT 10;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10353244,ECO:0000269|PubMed:10367892;Dbxref=PMID:10353244,PMID:10367892 |
| Q14974 | 408 | 472 | 449 | 485 | Repeat | Note=HEAT 11;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10353244;Dbxref=PMID:10353244 |
| Q14974 | 408 | 472 | 404 | 408 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IBR |
| Q14974 | 408 | 472 | 446 | 448 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IBR |
| Q14974 | 565 | 589 | 1 | 876 | Chain | ID=PRO_0000120745;Note=Importin subunit beta-1 |
| Q14974 | 565 | 589 | 573 | 592 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1QGR |
| Q14974 | 565 | 589 | 544 | 592 | Repeat | Note=HEAT 13;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10353244;Dbxref=PMID:10353244 |
| Q14974 | 565 | 589 | 563 | 566 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1QGR |
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3'-UTR located exon skipping events that lost miRNA binding sites in KPNB1 |
| 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 KPNB1 |
| - 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 KPNB1 |
| 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 KPNB1 |
| 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 KPNB1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for KPNB1 |
| 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 KPNB1 |
| 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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