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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 KPNA5 |
 Gene summary |
| Gene information | Gene symbol | KPNA5 | Gene ID | 3841 |
| Gene name | karyopherin subunit alpha 5 | |
| Synonyms | IPOA6|SRP6 | |
| Cytomap | 6q22.1 | |
| Type of gene | protein-coding | |
| Description | importin subunit alpha-6importin alpha 6karyopherin alpha 5 (importin alpha 6) | |
| Modification date | 20180523 | |
| UniProtAcc | O15131 | |
| Context | PubMed: KPNA5 [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 KPNA5 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 KPNA5 |
| 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 KPNA5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_453902 | 6 | 117010482:117010616:117013217:117013319:117013455:117013555 | 117013217:117013319 | ENSG00000196911.5 | ENST00000413340.1,ENST00000368564.1,ENST00000356348.1 |
| exon_skip_453905 | 6 | 117013217:117013319:117013455:117013555:117019866:117019961 | 117013455:117013555 | ENSG00000196911.5 | ENST00000413340.1,ENST00000368564.1,ENST00000356348.1 |
| exon_skip_453906 | 6 | 117013455:117013555:117019866:117019961:117023181:117023313 | 117019866:117019961 | ENSG00000196911.5 | ENST00000368564.1,ENST00000356348.1 |
| exon_skip_453907 | 6 | 117023181:117023313:117026234:117026323:117037381:117037481 | 117026234:117026323 | ENSG00000196911.5 | ENST00000368564.1,ENST00000356348.1 |
| exon_skip_453910 | 6 | 117026234:117026323:117037381:117037481:117043288:117043452 | 117037381:117037481 | ENSG00000196911.5 | ENST00000368564.1,ENST00000356348.1 |
| exon_skip_453911 | 6 | 117043288:117043452:117045459:117045538:117046913:117047039 | 117045459:117045538 | ENSG00000196911.5 | ENST00000368564.1,ENST00000356348.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KPNA5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_453902 | 6 | 117010482:117010616:117013217:117013319:117013455:117013555 | 117013217:117013319 | ENSG00000196911.5 | ENST00000413340.1,ENST00000368564.1,ENST00000356348.1 |
| exon_skip_453905 | 6 | 117013217:117013319:117013455:117013555:117019866:117019961 | 117013455:117013555 | ENSG00000196911.5 | ENST00000413340.1,ENST00000368564.1,ENST00000356348.1 |
| exon_skip_453906 | 6 | 117013455:117013555:117019866:117019961:117023181:117023313 | 117019866:117019961 | ENSG00000196911.5 | ENST00000368564.1,ENST00000356348.1 |
| exon_skip_453907 | 6 | 117023181:117023313:117026234:117026323:117037381:117037481 | 117026234:117026323 | ENSG00000196911.5 | ENST00000368564.1,ENST00000356348.1 |
| exon_skip_453910 | 6 | 117026234:117026323:117037381:117037481:117043288:117043452 | 117037381:117037481 | ENSG00000196911.5 | ENST00000368564.1,ENST00000356348.1 |
| exon_skip_453911 | 6 | 117043288:117043452:117045459:117045538:117046913:117047039 | 117045459:117045538 | ENSG00000196911.5 | ENST00000368564.1,ENST00000356348.1 |
| 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 KPNA5 |
| 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 |
| ENST00000356348 | 117013455 | 117013555 | Frame-shift |
| ENST00000368564 | 117013455 | 117013555 | Frame-shift |
| ENST00000356348 | 117019866 | 117019961 | Frame-shift |
| ENST00000368564 | 117019866 | 117019961 | Frame-shift |
| ENST00000356348 | 117026234 | 117026323 | Frame-shift |
| ENST00000368564 | 117026234 | 117026323 | Frame-shift |
| ENST00000356348 | 117037381 | 117037481 | Frame-shift |
| ENST00000368564 | 117037381 | 117037481 | Frame-shift |
| ENST00000356348 | 117045459 | 117045538 | Frame-shift |
| ENST00000368564 | 117045459 | 117045538 | Frame-shift |
| ENST00000356348 | 117013217 | 117013319 | In-frame |
| ENST00000368564 | 117013217 | 117013319 | 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 |
| ENST00000356348 | 117013455 | 117013555 | Frame-shift |
| ENST00000368564 | 117013455 | 117013555 | Frame-shift |
| ENST00000356348 | 117019866 | 117019961 | Frame-shift |
| ENST00000368564 | 117019866 | 117019961 | Frame-shift |
| ENST00000356348 | 117026234 | 117026323 | Frame-shift |
| ENST00000368564 | 117026234 | 117026323 | Frame-shift |
| ENST00000356348 | 117037381 | 117037481 | Frame-shift |
| ENST00000368564 | 117037381 | 117037481 | Frame-shift |
| ENST00000356348 | 117045459 | 117045538 | Frame-shift |
| ENST00000368564 | 117045459 | 117045538 | Frame-shift |
| ENST00000356348 | 117013217 | 117013319 | In-frame |
| ENST00000368564 | 117013217 | 117013319 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KPNA5 |
| 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 |
| ENST00000356348 | 2174 | 536 | 117013217 | 117013319 | 270 | 371 | 46 | 80 |
| ENST00000368564 | 5106 | 536 | 117013217 | 117013319 | 287 | 388 | 46 | 80 |
| 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 |
| ENST00000356348 | 2174 | 536 | 117013217 | 117013319 | 270 | 371 | 46 | 80 |
| ENST00000368564 | 5106 | 536 | 117013217 | 117013319 | 287 | 388 | 46 | 80 |
| 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 |
| O15131 | 46 | 80 | 1 | 536 | Chain | ID=PRO_0000120728;Note=Importin subunit alpha-6 |
| O15131 | 46 | 80 | 1 | 536 | Chain | ID=PRO_0000120728;Note=Importin subunit alpha-6 |
| O15131 | 46 | 80 | 2 | 57 | Domain | Note=IBB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00561 |
| O15131 | 46 | 80 | 2 | 57 | Domain | Note=IBB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00561 |
| O15131 | 46 | 80 | 42 | 51 | Motif | Note=Nuclear localization signal;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15131 | 46 | 80 | 42 | 51 | Motif | Note=Nuclear localization signal;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15131 | 46 | 80 | 73 | 115 | Repeat | Note=ARM 1%3B truncated |
| O15131 | 46 | 80 | 73 | 115 | Repeat | Note=ARM 1%3B truncated |
| O15131 | 46 | 80 | 67 | 67 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O15131 | 46 | 80 | 67 | 67 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O15131 | 46 | 80 | 79 | 79 | Sequence conflict | Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O15131 | 46 | 80 | 79 | 79 | Sequence conflict | Note=E->G;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 |
| O15131 | 46 | 80 | 1 | 536 | Chain | ID=PRO_0000120728;Note=Importin subunit alpha-6 |
| O15131 | 46 | 80 | 1 | 536 | Chain | ID=PRO_0000120728;Note=Importin subunit alpha-6 |
| O15131 | 46 | 80 | 2 | 57 | Domain | Note=IBB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00561 |
| O15131 | 46 | 80 | 2 | 57 | Domain | Note=IBB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00561 |
| O15131 | 46 | 80 | 42 | 51 | Motif | Note=Nuclear localization signal;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15131 | 46 | 80 | 42 | 51 | Motif | Note=Nuclear localization signal;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15131 | 46 | 80 | 73 | 115 | Repeat | Note=ARM 1%3B truncated |
| O15131 | 46 | 80 | 73 | 115 | Repeat | Note=ARM 1%3B truncated |
| O15131 | 46 | 80 | 67 | 67 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O15131 | 46 | 80 | 67 | 67 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O15131 | 46 | 80 | 79 | 79 | Sequence conflict | Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O15131 | 46 | 80 | 79 | 79 | Sequence conflict | Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for KPNA5 |
| - 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_453905 | 117013456 | 117013555 | 117013490 | 117013490 | Frame_Shift_Del | T | - | p.I92fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_453906 | 117019867 | 117019961 | 117019920 | 117019920 | Frame_Shift_Del | T | - | p.F132fs |
| LIHC | TCGA-DD-A4NG-01 | exon_skip_453906 | 117019867 | 117019961 | 117019926 | 117019927 | Frame_Shift_Del | AA | - | p.133_134del |
| LIHC | TCGA-DD-A4NG-01 | exon_skip_453906 | 117019867 | 117019961 | 117019926 | 117019927 | Frame_Shift_Del | AA | - | p.K134fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_453906 | 117019867 | 117019961 | 117019926 | 117019926 | Frame_Shift_Del | A | - | p.K134fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_453910 | 117037382 | 117037481 | 117037432 | 117037432 | Frame_Shift_Del | C | - | p.A236fs |
| COAD | TCGA-A6-6140-01 | exon_skip_453902 | 117013218 | 117013319 | 117013257 | 117013258 | Frame_Shift_Ins | - | A | p.E60fs |
| - 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 |
| NCIH28_PLEURA | 117013456 | 117013555 | 117013462 | 117013464 | In_Frame_Del | GTT | - | p.V84del |
| HCC2218_BREAST | 117013218 | 117013319 | 117013223 | 117013223 | Missense_Mutation | C | G | p.F48L |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117013218 | 117013319 | 117013228 | 117013228 | Missense_Mutation | G | A | p.R50H |
| EMCBAC1_LUNG | 117013218 | 117013319 | 117013244 | 117013244 | Missense_Mutation | G | T | p.L55F |
| COLO792_SKIN | 117013218 | 117013319 | 117013249 | 117013249 | Missense_Mutation | G | A | p.R57K |
| IGROV1_OVARY | 117013456 | 117013555 | 117013489 | 117013489 | Missense_Mutation | A | T | p.I92F |
| TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117013456 | 117013555 | 117013510 | 117013510 | Missense_Mutation | C | G | p.Q99E |
| NCIH211_LUNG | 117013456 | 117013555 | 117013519 | 117013519 | Missense_Mutation | A | T | p.T102S |
| HEC251_ENDOMETRIUM | 117013456 | 117013555 | 117013530 | 117013530 | Missense_Mutation | G | T | p.Q105H |
| HARA_LUNG | 117019867 | 117019961 | 117019945 | 117019945 | Missense_Mutation | A | T | p.E140V |
| NCIH82_LUNG | 117026235 | 117026323 | 117026247 | 117026247 | Missense_Mutation | C | G | p.L194V |
| U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117037382 | 117037481 | 117037417 | 117037417 | Missense_Mutation | G | A | p.R231K |
| MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117037382 | 117037481 | 117037425 | 117037425 | Missense_Mutation | G | A | p.V234M |
| EBC1_LUNG | 117037382 | 117037481 | 117037446 | 117037446 | Missense_Mutation | T | C | p.C241R |
| EBC1_LUNG | 117037382 | 117037481 | 117037446 | 117037447 | Missense_Mutation | TG | CT | p.C241L |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117037382 | 117037481 | 117037447 | 117037447 | Missense_Mutation | G | A | p.C241Y |
| EBC1_LUNG | 117037382 | 117037481 | 117037447 | 117037447 | Missense_Mutation | G | T | p.C241F |
| OE19_OESOPHAGUS | 117037382 | 117037481 | 117037460 | 117037460 | Missense_Mutation | C | G | p.N245K |
| SLR25_KIDNEY | 117037382 | 117037481 | 117037472 | 117037472 | Missense_Mutation | C | G | p.N249K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KPNA5 |
| 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 KPNA5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KPNA5 |
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RelatedDrugs for KPNA5 |
| 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 KPNA5 |
| 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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