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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 NUP88 |
 Gene summary |
| Gene information | Gene symbol | NUP88 | Gene ID | 4927 |
| Gene name | nucleoporin 88 | |
| Synonyms | - | |
| Cytomap | 17p13.2 | |
| Type of gene | protein-coding | |
| Description | nuclear pore complex protein Nup88karyoporinnuclear pore complex protein 88nucleoporin 88kDanucleoporin Nup88 | |
| Modification date | 20180523 | |
| UniProtAcc | Q99567 | |
| Context | PubMed: NUP88 [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 NUP88 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 NUP88 |
| 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 NUP88 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_285939 | 17 | 5290403:5290430:5290705:5290786:5290924:5290990 | 5290705:5290786 | ENSG00000108559.7 | ENST00000574087.1,ENST00000573584.1,ENST00000225696.4 |
| exon_skip_285942 | 17 | 5290924:5290990:5291098:5291224:5292121:5292170 | 5291098:5291224 | ENSG00000108559.7 | ENST00000573584.1,ENST00000576708.1,ENST00000576862.1 |
| exon_skip_285945 | 17 | 5290924:5290990:5291098:5291272:5292121:5292170 | 5291098:5291272 | ENSG00000108559.7 | ENST00000225696.4 |
| exon_skip_285948 | 17 | 5291098:5291224:5292121:5292280:5294880:5294982 | 5292121:5292280 | ENSG00000108559.7 | ENST00000573584.1,ENST00000576862.1 |
| exon_skip_285949 | 17 | 5292121:5292280:5294880:5294982:5298210:5298299 | 5294880:5294982 | ENSG00000108559.7 | ENST00000573584.1,ENST00000574867.1,ENST00000576862.1,ENST00000225696.4 |
| exon_skip_285951 | 17 | 5294880:5294982:5298210:5298301:5302871:5302953 | 5298210:5298301 | ENSG00000108559.7 | ENST00000573584.1,ENST00000574867.1,ENST00000570937.1,ENST00000225696.4 |
| exon_skip_285954 | 17 | 5298210:5298301:5302871:5302970:5307418:5307566 | 5302871:5302970 | ENSG00000108559.7 | ENST00000573584.1,ENST00000574867.1,ENST00000225696.4 |
| exon_skip_285958 | 17 | 5302871:5302970:5307418:5307566:5308376:5308447 | 5307418:5307566 | ENSG00000108559.7 | ENST00000573584.1,ENST00000574867.1,ENST00000225696.4 |
| exon_skip_285960 | 17 | 5312056:5312229:5314022:5314109:5317328:5317454 | 5314022:5314109 | ENSG00000108559.7 | ENST00000573584.1,ENST00000572809.1,ENST00000574867.1,ENST00000225696.4 |
| exon_skip_285961 | 17 | 5317419:5317454:5319832:5320002:5322673:5322786 | 5319832:5320002 | ENSG00000108559.7 | ENST00000573584.1,ENST00000574867.1,ENST00000225696.4 |
| exon_skip_285963 | 17 | 5319872:5320002:5321334:5321436:5322673:5322786 | 5321334:5321436 | ENSG00000108559.7 | ENST00000572290.1 |
| exon_skip_285964 | 17 | 5319872:5320002:5321334:5321461:5322673:5322786 | 5321334:5321461 | ENSG00000108559.7 | ENST00000572019.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NUP88 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_285939 | 17 | 5290403:5290430:5290705:5290786:5290924:5290990 | 5290705:5290786 | ENSG00000108559.7 | ENST00000573584.1,ENST00000225696.4,ENST00000574087.1 |
| exon_skip_285942 | 17 | 5290924:5290990:5291098:5291224:5292121:5292170 | 5291098:5291224 | ENSG00000108559.7 | ENST00000576708.1,ENST00000573584.1,ENST00000576862.1 |
| exon_skip_285945 | 17 | 5290924:5290990:5291098:5291272:5292121:5292170 | 5291098:5291272 | ENSG00000108559.7 | ENST00000225696.4 |
| exon_skip_285948 | 17 | 5291098:5291224:5292121:5292280:5294880:5294982 | 5292121:5292280 | ENSG00000108559.7 | ENST00000573584.1,ENST00000576862.1 |
| exon_skip_285949 | 17 | 5292121:5292280:5294880:5294982:5298210:5298299 | 5294880:5294982 | ENSG00000108559.7 | ENST00000573584.1,ENST00000225696.4,ENST00000576862.1,ENST00000574867.1 |
| exon_skip_285951 | 17 | 5294880:5294982:5298210:5298301:5302871:5302953 | 5298210:5298301 | ENSG00000108559.7 | ENST00000573584.1,ENST00000225696.4,ENST00000574867.1,ENST00000570937.1 |
| exon_skip_285954 | 17 | 5298210:5298301:5302871:5302970:5307418:5307566 | 5302871:5302970 | ENSG00000108559.7 | ENST00000573584.1,ENST00000225696.4,ENST00000574867.1 |
| exon_skip_285958 | 17 | 5302871:5302970:5307418:5307566:5308376:5308447 | 5307418:5307566 | ENSG00000108559.7 | ENST00000573584.1,ENST00000225696.4,ENST00000574867.1 |
| exon_skip_285960 | 17 | 5312056:5312229:5314022:5314109:5317328:5317454 | 5314022:5314109 | ENSG00000108559.7 | ENST00000573584.1,ENST00000225696.4,ENST00000574867.1,ENST00000572809.1 |
| exon_skip_285961 | 17 | 5317419:5317454:5319832:5320002:5322673:5322786 | 5319832:5320002 | ENSG00000108559.7 | ENST00000573584.1,ENST00000225696.4,ENST00000574867.1 |
| exon_skip_285963 | 17 | 5319872:5320002:5321334:5321436:5322673:5322786 | 5321334:5321436 | ENSG00000108559.7 | ENST00000572290.1 |
| exon_skip_285964 | 17 | 5319872:5320002:5321334:5321461:5322673:5322786 | 5321334:5321461 | ENSG00000108559.7 | ENST00000572019.1 |
| 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 NUP88 |
| 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 |
| ENST00000573584 | 5298210 | 5298301 | Frame-shift |
| ENST00000573584 | 5307418 | 5307566 | Frame-shift |
| ENST00000573584 | 5319832 | 5320002 | Frame-shift |
| ENST00000573584 | 5290705 | 5290786 | In-frame |
| ENST00000573584 | 5291098 | 5291224 | In-frame |
| ENST00000573584 | 5292121 | 5292280 | In-frame |
| ENST00000573584 | 5294880 | 5294982 | In-frame |
| ENST00000573584 | 5302871 | 5302970 | In-frame |
| ENST00000573584 | 5314022 | 5314109 | 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 |
| ENST00000573584 | 5298210 | 5298301 | Frame-shift |
| ENST00000573584 | 5307418 | 5307566 | Frame-shift |
| ENST00000573584 | 5319832 | 5320002 | Frame-shift |
| ENST00000573584 | 5290705 | 5290786 | In-frame |
| ENST00000573584 | 5291098 | 5291224 | In-frame |
| ENST00000573584 | 5292121 | 5292280 | In-frame |
| ENST00000573584 | 5294880 | 5294982 | In-frame |
| ENST00000573584 | 5302871 | 5302970 | In-frame |
| ENST00000573584 | 5314022 | 5314109 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NUP88 |
| 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 |
| ENST00000573584 | 2933 | 741 | 5314022 | 5314109 | 1104 | 1190 | 198 | 226 |
| ENST00000573584 | 2933 | 741 | 5302871 | 5302970 | 1703 | 1801 | 397 | 430 |
| ENST00000573584 | 2933 | 741 | 5294880 | 5294982 | 1893 | 1994 | 461 | 494 |
| ENST00000573584 | 2933 | 741 | 5292121 | 5292280 | 1995 | 2153 | 495 | 547 |
| ENST00000573584 | 2933 | 741 | 5291098 | 5291224 | 2154 | 2279 | 548 | 589 |
| ENST00000573584 | 2933 | 741 | 5290705 | 5290786 | 2346 | 2426 | 612 | 638 |
| 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 |
| ENST00000573584 | 2933 | 741 | 5314022 | 5314109 | 1104 | 1190 | 198 | 226 |
| ENST00000573584 | 2933 | 741 | 5302871 | 5302970 | 1703 | 1801 | 397 | 430 |
| ENST00000573584 | 2933 | 741 | 5294880 | 5294982 | 1893 | 1994 | 461 | 494 |
| ENST00000573584 | 2933 | 741 | 5292121 | 5292280 | 1995 | 2153 | 495 | 547 |
| ENST00000573584 | 2933 | 741 | 5291098 | 5291224 | 2154 | 2279 | 548 | 589 |
| ENST00000573584 | 2933 | 741 | 5290705 | 5290786 | 2346 | 2426 | 612 | 638 |
| 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 |
| Q99567 | 198 | 226 | 2 | 741 | Chain | ID=PRO_0000204887;Note=Nuclear pore complex protein Nup88 |
| Q99567 | 397 | 430 | 2 | 741 | Chain | ID=PRO_0000204887;Note=Nuclear pore complex protein Nup88 |
| Q99567 | 461 | 494 | 2 | 741 | Chain | ID=PRO_0000204887;Note=Nuclear pore complex protein Nup88 |
| Q99567 | 495 | 547 | 2 | 741 | Chain | ID=PRO_0000204887;Note=Nuclear pore complex protein Nup88 |
| Q99567 | 495 | 547 | 517 | 517 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0 |
| Q99567 | 495 | 547 | 525 | 525 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMI |
| Q99567 | 495 | 547 | 540 | 540 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| Q99567 | 495 | 547 | 518 | 518 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99567 | 548 | 589 | 2 | 741 | Chain | ID=PRO_0000204887;Note=Nuclear pore complex protein Nup88 |
| Q99567 | 548 | 589 | 585 | 651 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q99567 | 612 | 638 | 2 | 741 | Chain | ID=PRO_0000204887;Note=Nuclear pore complex protein Nup88 |
| Q99567 | 612 | 638 | 585 | 651 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q99567 | 198 | 226 | 2 | 741 | Chain | ID=PRO_0000204887;Note=Nuclear pore complex protein Nup88 |
| Q99567 | 397 | 430 | 2 | 741 | Chain | ID=PRO_0000204887;Note=Nuclear pore complex protein Nup88 |
| Q99567 | 461 | 494 | 2 | 741 | Chain | ID=PRO_0000204887;Note=Nuclear pore complex protein Nup88 |
| Q99567 | 495 | 547 | 2 | 741 | Chain | ID=PRO_0000204887;Note=Nuclear pore complex protein Nup88 |
| Q99567 | 495 | 547 | 517 | 517 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0 |
| Q99567 | 495 | 547 | 525 | 525 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMI |
| Q99567 | 495 | 547 | 540 | 540 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| Q99567 | 495 | 547 | 518 | 518 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99567 | 548 | 589 | 2 | 741 | Chain | ID=PRO_0000204887;Note=Nuclear pore complex protein Nup88 |
| Q99567 | 548 | 589 | 585 | 651 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q99567 | 612 | 638 | 2 | 741 | Chain | ID=PRO_0000204887;Note=Nuclear pore complex protein Nup88 |
| Q99567 | 612 | 638 | 585 | 651 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for NUP88 |
| - 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 |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_285949 | 5294881 | 5294982 | 5294966 | 5294966 | Nonsense_Mutation | G | A | p.R467* |
| THYM | TCGA-ZB-A969-01 | exon_skip_285954 | 5302872 | 5302970 | 5302955 | 5302955 | Nonsense_Mutation | G | T | p.S403X |
| - 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 |
| HT115_LARGE_INTESTINE | 5290706 | 5290786 | 5290709 | 5290709 | Missense_Mutation | T | C | p.N638S |
| OVK18_OVARY | 5290706 | 5290786 | 5290775 | 5290775 | Missense_Mutation | C | T | p.R616Q |
| SLR26_KIDNEY | 5291099 | 5291272 | 5291208 | 5291208 | Missense_Mutation | T | C | p.I554V |
| SLR26_KIDNEY | 5291099 | 5291224 | 5291208 | 5291208 | Missense_Mutation | T | C | p.I554V |
| NCIH2073_LUNG | 5294881 | 5294982 | 5294927 | 5294927 | Missense_Mutation | T | C | p.M480V |
| NCIH1993_LUNG | 5294881 | 5294982 | 5294927 | 5294927 | Missense_Mutation | T | C | p.M480V |
| EN_ENDOMETRIUM | 5298211 | 5298301 | 5298282 | 5298282 | Missense_Mutation | A | C | p.S437R |
| MDAMB468_BREAST | 5302872 | 5302970 | 5302929 | 5302929 | Missense_Mutation | C | T | p.G412S |
| JHU029_UPPER_AERODIGESTIVE_TRACT | 5307419 | 5307566 | 5307496 | 5307496 | Missense_Mutation | T | C | p.E372G |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5314023 | 5314109 | 5314036 | 5314036 | Missense_Mutation | C | T | p.V223I |
| HCT116_LARGE_INTESTINE | 5314023 | 5314109 | 5314042 | 5314042 | Missense_Mutation | T | G | p.S221R |
| BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5314023 | 5314109 | 5314051 | 5314051 | Missense_Mutation | C | T | p.E218K |
| LC41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5314023 | 5314109 | 5314095 | 5314095 | Missense_Mutation | C | T | p.R203H |
| CAL148_BREAST | 5319833 | 5320002 | 5319890 | 5319890 | Missense_Mutation | G | A | p.P137L |
| BT20_BREAST | 5319833 | 5320002 | 5319950 | 5319950 | Missense_Mutation | C | A | p.S117I |
| ESS1_ENDOMETRIUM | 5319833 | 5320002 | 5319980 | 5319980 | Missense_Mutation | G | A | p.P107L |
| HEC108_ENDOMETRIUM | 5319833 | 5320002 | 5320000 | 5320000 | Missense_Mutation | T | A | p.R100S |
| JHUEM7_ENDOMETRIUM | 5294881 | 5294982 | 5294966 | 5294966 | Nonsense_Mutation | G | A | p.R467* |
| SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5294881 | 5294982 | 5294966 | 5294966 | Nonsense_Mutation | G | A | p.R467* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NUP88 |
| 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 NUP88 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NUP88 |
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RelatedDrugs for NUP88 |
| 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 NUP88 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| NUP88 | C0019693 | HIV Infections | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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