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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 XPO5 |
 Gene summary |
| Gene information | Gene symbol | XPO5 | Gene ID | 57510 |
| Gene name | exportin 5 | |
| Synonyms | exp5 | |
| Cytomap | 6p21.1 | |
| Type of gene | protein-coding | |
| Description | exportin-5ran-binding protein 21 | |
| Modification date | 20180527 | |
| UniProtAcc | Q9HAV4 | |
| Context | PubMed: XPO5 [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 |
| XPO5 | GO:0006611 | protein export from nucleus | 11777942|24209753 |
| XPO5 | GO:0035281 | pre-miRNA export from nucleus | 15613540 |
| XPO5 | GO:1900370 | positive regulation of RNA interference | 15613540 |
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Exon skipping events across known transcript of Ensembl for XPO5 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 XPO5 |
| 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 XPO5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_459759 | 6 | 43490074:43491743:43492208:43492373:43492568:43492706 | 43492208:43492373 | ENSG00000124571.13 | ENST00000455854.2,ENST00000265351.7 |
| exon_skip_459761 | 6 | 43492568:43492706:43492844:43492952:43493576:43493659 | 43492844:43492952 | ENSG00000124571.13 | ENST00000486936.2,ENST00000265351.7,ENST00000455285.2,ENST00000488195.2 |
| exon_skip_459762 | 6 | 43492844:43492952:43493576:43493659:43494422:43494485 | 43493576:43493659 | ENSG00000124571.13 | ENST00000486936.2,ENST00000265351.7,ENST00000488195.2 |
| exon_skip_459770 | 6 | 43499216:43499313:43501643:43501744:43514307:43514489 | 43501643:43501744 | ENSG00000124571.13 | ENST00000265351.7,ENST00000398835.3 |
| exon_skip_459771 | 6 | 43514307:43514489:43515052:43515190:43515344:43515412 | 43515052:43515190 | ENSG00000124571.13 | ENST00000398835.3 |
| exon_skip_459773 | 6 | 43517629:43517671:43519034:43519190:43521109:43521240 | 43519034:43519190 | ENSG00000124571.13 | ENST00000496341.2,ENST00000265351.7 |
| exon_skip_459777 | 6 | 43519060:43519190:43521109:43521240:43523572:43523701 | 43521109:43521240 | ENSG00000124571.13 | ENST00000496341.2,ENST00000265351.7,ENST00000424378.2 |
| exon_skip_459779 | 6 | 43523572:43523701:43526237:43526328:43527914:43528040 | 43526237:43526328 | ENSG00000124571.13 | ENST00000265351.7 |
| exon_skip_459780 | 6 | 43526237:43526328:43527914:43528040:43528660:43528744 | 43527914:43528040 | ENSG00000124571.13 | ENST00000265351.7 |
| exon_skip_459782 | 6 | 43527914:43528040:43528660:43528744:43529983:43530070 | 43528660:43528744 | ENSG00000124571.13 | ENST00000496341.2,ENST00000265351.7 |
| exon_skip_459783 | 6 | 43538666:43538731:43540242:43540315:43541216:43541338 | 43540242:43540315 | ENSG00000124571.13 | ENST00000265351.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for XPO5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_459759 | 6 | 43490074:43491743:43492208:43492373:43492568:43492706 | 43492208:43492373 | ENSG00000124571.13 | ENST00000265351.7,ENST00000455854.2 |
| exon_skip_459761 | 6 | 43492568:43492706:43492844:43492952:43493576:43493659 | 43492844:43492952 | ENSG00000124571.13 | ENST00000265351.7,ENST00000488195.2,ENST00000486936.2,ENST00000455285.2 |
| exon_skip_459762 | 6 | 43492844:43492952:43493576:43493659:43494422:43494485 | 43493576:43493659 | ENSG00000124571.13 | ENST00000265351.7,ENST00000488195.2,ENST00000486936.2 |
| exon_skip_459763 | 6 | 43492844:43492952:43493576:43493692:43494422:43494485 | 43493576:43493692 | ENSG00000124571.13 | ENST00000455285.2 |
| exon_skip_459770 | 6 | 43499216:43499313:43501643:43501744:43514307:43514489 | 43501643:43501744 | ENSG00000124571.13 | ENST00000265351.7,ENST00000398835.3 |
| exon_skip_459771 | 6 | 43514307:43514489:43515052:43515190:43515344:43515412 | 43515052:43515190 | ENSG00000124571.13 | ENST00000398835.3 |
| exon_skip_459773 | 6 | 43517629:43517671:43519034:43519190:43521109:43521240 | 43519034:43519190 | ENSG00000124571.13 | ENST00000265351.7,ENST00000496341.2 |
| exon_skip_459777 | 6 | 43519060:43519190:43521109:43521240:43523572:43523701 | 43521109:43521240 | ENSG00000124571.13 | ENST00000265351.7,ENST00000496341.2,ENST00000424378.2 |
| exon_skip_459779 | 6 | 43523572:43523701:43526237:43526328:43527914:43528040 | 43526237:43526328 | ENSG00000124571.13 | ENST00000265351.7 |
| exon_skip_459782 | 6 | 43527914:43528040:43528660:43528744:43529983:43530070 | 43528660:43528744 | ENSG00000124571.13 | ENST00000265351.7,ENST00000496341.2 |
| exon_skip_459783 | 6 | 43538666:43538731:43540242:43540315:43541216:43541338 | 43540242:43540315 | ENSG00000124571.13 | ENST00000265351.7 |
| 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 XPO5 |
| 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 |
| ENST00000265351 | 43493576 | 43493659 | Frame-shift |
| ENST00000265351 | 43501643 | 43501744 | Frame-shift |
| ENST00000265351 | 43521109 | 43521240 | Frame-shift |
| ENST00000265351 | 43526237 | 43526328 | Frame-shift |
| ENST00000265351 | 43540242 | 43540315 | Frame-shift |
| ENST00000265351 | 43492208 | 43492373 | In-frame |
| ENST00000265351 | 43492844 | 43492952 | In-frame |
| ENST00000265351 | 43519034 | 43519190 | In-frame |
| ENST00000265351 | 43527914 | 43528040 | In-frame |
| ENST00000265351 | 43528660 | 43528744 | 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 |
| ENST00000265351 | 43493576 | 43493659 | Frame-shift |
| ENST00000265351 | 43501643 | 43501744 | Frame-shift |
| ENST00000265351 | 43521109 | 43521240 | Frame-shift |
| ENST00000265351 | 43526237 | 43526328 | Frame-shift |
| ENST00000265351 | 43540242 | 43540315 | Frame-shift |
| ENST00000265351 | 43492208 | 43492373 | In-frame |
| ENST00000265351 | 43492844 | 43492952 | In-frame |
| ENST00000265351 | 43519034 | 43519190 | In-frame |
| ENST00000265351 | 43528660 | 43528744 | In-frame |
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Infer the effects of exon skipping event on protein functional features for XPO5 |
| 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 |
| ENST00000265351 | 5377 | 1204 | 43528660 | 43528744 | 1223 | 1306 | 337 | 365 |
| ENST00000265351 | 5377 | 1204 | 43527914 | 43528040 | 1307 | 1432 | 365 | 407 |
| ENST00000265351 | 5377 | 1204 | 43519034 | 43519190 | 1784 | 1939 | 524 | 576 |
| ENST00000265351 | 5377 | 1204 | 43492844 | 43492952 | 3278 | 3385 | 1022 | 1058 |
| ENST00000265351 | 5377 | 1204 | 43492208 | 43492373 | 3524 | 3688 | 1104 | 1159 |
| 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 |
| ENST00000265351 | 5377 | 1204 | 43528660 | 43528744 | 1223 | 1306 | 337 | 365 |
| ENST00000265351 | 5377 | 1204 | 43519034 | 43519190 | 1784 | 1939 | 524 | 576 |
| ENST00000265351 | 5377 | 1204 | 43492844 | 43492952 | 3278 | 3385 | 1022 | 1058 |
| ENST00000265351 | 5377 | 1204 | 43492208 | 43492373 | 3524 | 3688 | 1104 | 1159 |
| 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 |
| 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 |
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SNVs in the skipped exons for XPO5 |
| - 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-A39Y-01 | exon_skip_459762 | 43493577 | 43493659 | 43493628 | 43493628 | Frame_Shift_Del | G | - | p.P1005fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_459773 | 43519035 | 43519190 | 43519049 | 43519049 | Frame_Shift_Del | G | - | p.Q572fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_459777 | 43521110 | 43521240 | 43521153 | 43521153 | Frame_Shift_Del | A | - | p.L510fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_459777 | 43521110 | 43521240 | 43521203 | 43521204 | Frame_Shift_Ins | - | C | p.C493fs |
| COAD | TCGA-CM-4746-01 | exon_skip_459780 | 43527915 | 43528040 | 43528008 | 43528009 | Frame_Shift_Ins | - | C | p.G376fs |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_459770 | 43501644 | 43501744 | 43501719 | 43501719 | Nonsense_Mutation | C | A | p.E790* |
| CHOL | TCGA-W5-AA2R-01 | exon_skip_459773 | 43519035 | 43519190 | 43519110 | 43519110 | Nonsense_Mutation | G | T | p.C551X |
| - 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 |
| HEC151_ENDOMETRIUM | 43519035 | 43519190 | 43519059 | 43519060 | Frame_Shift_Del | CT | - | p.E568fs |
| OVK18_OVARY | 43521110 | 43521240 | 43521153 | 43521153 | Frame_Shift_Del | A | - | p.L510fs |
| HEC1_ENDOMETRIUM | 43521110 | 43521240 | 43521153 | 43521153 | Frame_Shift_Del | A | - | p.L510fs |
| PCI15A_UPPER_AERODIGESTIVE_TRACT | 43519035 | 43519190 | 43519090 | 43519091 | Frame_Shift_Ins | - | C | p.A558fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 43527915 | 43528040 | 43527968 | 43527969 | In_Frame_Ins | - | TGC | p.389_390LL>LAL |
| TE4_OESOPHAGUS | 43492209 | 43492373 | 43492309 | 43492309 | Missense_Mutation | A | G | p.L1126P |
| RKO_LARGE_INTESTINE | 43501644 | 43501744 | 43501707 | 43501707 | Missense_Mutation | T | C | p.K794E |
| HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43501644 | 43501744 | 43501710 | 43501710 | Missense_Mutation | C | T | p.A793T |
| SNU407_LARGE_INTESTINE | 43519035 | 43519190 | 43519187 | 43519187 | Missense_Mutation | T | G | p.I526L |
| JHUEM7_ENDOMETRIUM | 43521110 | 43521240 | 43521126 | 43521126 | Missense_Mutation | C | T | p.R519Q |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43521110 | 43521240 | 43521145 | 43521145 | Missense_Mutation | C | T | p.V513I |
| SNU81_LARGE_INTESTINE | 43528661 | 43528744 | 43528687 | 43528687 | Missense_Mutation | G | T | p.L357I |
| LIM1215_LARGE_INTESTINE | 43540243 | 43540315 | 43540265 | 43540265 | Missense_Mutation | C | T | p.S93N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for XPO5 |
| 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 XPO5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for XPO5 |
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RelatedDrugs for XPO5 |
| 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 XPO5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| XPO5 | C0920269 | Microsatellite Instability | 1 | CTD_human |
| XPO5 | C1868672 | NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE | 1 | CTD_human |
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