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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 NUP107 |
 Gene summary |
| Gene information | Gene symbol | NUP107 | Gene ID | 57122 |
| Gene name | nucleoporin 107 | |
| Synonyms | NPHS11|NUP84 | |
| Cytomap | 12q15 | |
| Type of gene | protein-coding | |
| Description | nuclear pore complex protein Nup107nucleoporin 107kDa | |
| Modification date | 20180523 | |
| UniProtAcc | P57740 | |
| Context | PubMed: NUP107 [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 |
| NUP107 | GO:0006406 | mRNA export from nucleus | 11684705 |
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Exon skipping events across known transcript of Ensembl for NUP107 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 NUP107 |
| 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 NUP107 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_85113 | 12 | 69083312:69083399:69084410:69084526:69090598:69090690 | 69084410:69084526 | ENSG00000111581.5 | ENST00000535718.1,ENST00000378905.2 |
| exon_skip_85116 | 12 | 69084450:69084526:69085747:69085892:69090598:69090690 | 69085747:69085892 | ENSG00000111581.5 | ENST00000538549.1,ENST00000229179.4,ENST00000537598.1,ENST00000545140.1,ENST00000539906.1 |
| exon_skip_85117 | 12 | 69084450:69084526:69085747:69085892:69090630:69090702 | 69085747:69085892 | ENSG00000111581.5 | ENST00000535333.1 |
| exon_skip_85118 | 12 | 69090630:69090702:69094505:69094633:69096515:69096564 | 69094505:69094633 | ENSG00000111581.5 | ENST00000535718.1,ENST00000229179.4,ENST00000539906.1,ENST00000378905.2 |
| exon_skip_85120 | 12 | 69090630:69090702:69096515:69096564:69103017:69103045 | 69096515:69096564 | ENSG00000111581.5 | ENST00000537598.1 |
| exon_skip_85121 | 12 | 69094505:69094633:69096515:69096564:69103017:69103045 | 69096515:69096564 | ENSG00000111581.5 | ENST00000535718.1,ENST00000229179.4,ENST00000539906.1,ENST00000378905.2 |
| exon_skip_85123 | 12 | 69096515:69096564:69103017:69103089:69103784:69103873 | 69103017:69103089 | ENSG00000111581.5 | ENST00000535718.1,ENST00000229179.4,ENST00000539906.1,ENST00000378905.2 |
| exon_skip_85134 | 12 | 69113357:69113434:69114897:69114957:69115620:69115766 | 69114897:69114957 | ENSG00000111581.5 | ENST00000535718.1,ENST00000229179.4,ENST00000539906.1,ENST00000378905.2 |
| exon_skip_85135 | 12 | 69115883:69115932:69119506:69119576:69120278:69120397 | 69119506:69119576 | ENSG00000111581.5 | ENST00000535718.1,ENST00000229179.4,ENST00000539906.1,ENST00000378905.2 |
| exon_skip_85136 | 12 | 69120278:69120397:69121130:69121169:69124889:69125040 | 69121130:69121169 | ENSG00000111581.5 | ENST00000538993.1,ENST00000229179.4,ENST00000539906.1 |
| exon_skip_85138 | 12 | 69125386:69125499:69126416:69126519:69127231:69127305 | 69126416:69126519 | ENSG00000111581.5 | ENST00000538993.1,ENST00000229179.4,ENST00000539906.1 |
| exon_skip_85140 | 12 | 69128487:69128613:69129010:69129124:69135592:69135760 | 69129010:69129124 | ENSG00000111581.5 | ENST00000535718.1,ENST00000229179.4,ENST00000539906.1,ENST00000378905.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NUP107 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_85113 | 12 | 69083312:69083399:69084410:69084526:69090598:69090690 | 69084410:69084526 | ENSG00000111581.5 | ENST00000535718.1,ENST00000378905.2 |
| exon_skip_85116 | 12 | 69084450:69084526:69085747:69085892:69090598:69090690 | 69085747:69085892 | ENSG00000111581.5 | ENST00000229179.4,ENST00000537598.1,ENST00000539906.1,ENST00000538549.1,ENST00000545140.1 |
| exon_skip_85117 | 12 | 69084450:69084526:69085747:69085892:69090630:69090702 | 69085747:69085892 | ENSG00000111581.5 | ENST00000535333.1 |
| exon_skip_85118 | 12 | 69090630:69090702:69094505:69094633:69096515:69096564 | 69094505:69094633 | ENSG00000111581.5 | ENST00000229179.4,ENST00000535718.1,ENST00000378905.2,ENST00000539906.1 |
| exon_skip_85120 | 12 | 69090630:69090702:69096515:69096564:69103017:69103045 | 69096515:69096564 | ENSG00000111581.5 | ENST00000537598.1 |
| exon_skip_85121 | 12 | 69094505:69094633:69096515:69096564:69103017:69103045 | 69096515:69096564 | ENSG00000111581.5 | ENST00000229179.4,ENST00000535718.1,ENST00000378905.2,ENST00000539906.1 |
| exon_skip_85123 | 12 | 69096515:69096564:69103017:69103089:69103784:69103873 | 69103017:69103089 | ENSG00000111581.5 | ENST00000229179.4,ENST00000535718.1,ENST00000378905.2,ENST00000539906.1 |
| exon_skip_85134 | 12 | 69113357:69113434:69114897:69114957:69115620:69115766 | 69114897:69114957 | ENSG00000111581.5 | ENST00000229179.4,ENST00000535718.1,ENST00000378905.2,ENST00000539906.1 |
| exon_skip_85135 | 12 | 69115883:69115932:69119506:69119576:69120278:69120397 | 69119506:69119576 | ENSG00000111581.5 | ENST00000229179.4,ENST00000535718.1,ENST00000378905.2,ENST00000539906.1 |
| exon_skip_85136 | 12 | 69120278:69120397:69121130:69121169:69124889:69125040 | 69121130:69121169 | ENSG00000111581.5 | ENST00000229179.4,ENST00000539906.1,ENST00000538993.1 |
| exon_skip_85138 | 12 | 69125386:69125499:69126416:69126519:69127231:69127305 | 69126416:69126519 | ENSG00000111581.5 | ENST00000229179.4,ENST00000539906.1,ENST00000538993.1 |
| exon_skip_85140 | 12 | 69128487:69128613:69129010:69129124:69135592:69135760 | 69129010:69129124 | ENSG00000111581.5 | ENST00000229179.4,ENST00000535718.1,ENST00000378905.2,ENST00000539906.1 |
| 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 NUP107 |
| 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 |
| ENST00000229179 | 69085747 | 69085892 | Frame-shift |
| ENST00000229179 | 69094505 | 69094633 | Frame-shift |
| ENST00000229179 | 69096515 | 69096564 | Frame-shift |
| ENST00000229179 | 69119506 | 69119576 | Frame-shift |
| ENST00000229179 | 69126416 | 69126519 | Frame-shift |
| ENST00000229179 | 69103017 | 69103089 | In-frame |
| ENST00000229179 | 69114897 | 69114957 | In-frame |
| ENST00000229179 | 69121130 | 69121169 | In-frame |
| ENST00000229179 | 69129010 | 69129124 | 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 |
| ENST00000229179 | 69085747 | 69085892 | Frame-shift |
| ENST00000229179 | 69094505 | 69094633 | Frame-shift |
| ENST00000229179 | 69096515 | 69096564 | Frame-shift |
| ENST00000229179 | 69119506 | 69119576 | Frame-shift |
| ENST00000229179 | 69126416 | 69126519 | Frame-shift |
| ENST00000229179 | 69103017 | 69103089 | In-frame |
| ENST00000229179 | 69114897 | 69114957 | In-frame |
| ENST00000229179 | 69121130 | 69121169 | In-frame |
| ENST00000229179 | 69129010 | 69129124 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NUP107 |
| 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 |
| ENST00000229179 | 3670 | 925 | 69103017 | 69103089 | 1062 | 1133 | 243 | 267 |
| ENST00000229179 | 3670 | 925 | 69114897 | 69114957 | 1584 | 1643 | 417 | 437 |
| ENST00000229179 | 3670 | 925 | 69121130 | 69121169 | 2028 | 2066 | 565 | 578 |
| ENST00000229179 | 3670 | 925 | 69129010 | 69129124 | 2721 | 2834 | 796 | 834 |
| 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 |
| ENST00000229179 | 3670 | 925 | 69103017 | 69103089 | 1062 | 1133 | 243 | 267 |
| ENST00000229179 | 3670 | 925 | 69114897 | 69114957 | 1584 | 1643 | 417 | 437 |
| ENST00000229179 | 3670 | 925 | 69121130 | 69121169 | 2028 | 2066 | 565 | 578 |
| ENST00000229179 | 3670 | 925 | 69129010 | 69129124 | 2721 | 2834 | 796 | 834 |
| 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 |
| P57740 | 243 | 267 | 1 | 925 | Chain | ID=PRO_0000204831;Note=Nuclear pore complex protein Nup107 |
| P57740 | 417 | 437 | 1 | 925 | Chain | ID=PRO_0000204831;Note=Nuclear pore complex protein Nup107 |
| P57740 | 565 | 578 | 1 | 925 | Chain | ID=PRO_0000204831;Note=Nuclear pore complex protein Nup107 |
| P57740 | 796 | 834 | 1 | 925 | Chain | ID=PRO_0000204831;Note=Nuclear pore complex protein Nup107 |
| P57740 | 796 | 834 | 782 | 821 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CQC |
| P57740 | 796 | 834 | 831 | 831 | Natural variant | ID=VAR_076359;Note=In NPHS11%3B decreased interaction with NUP133%3B changed localization to the nuclear pore with relocalization to the cytoplasm. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26411495;Dbxref=dbSNP:rs864321632,PMID:26411495 |
| P57740 | 796 | 834 | 824 | 826 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CQC |
| 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 |
| P57740 | 243 | 267 | 1 | 925 | Chain | ID=PRO_0000204831;Note=Nuclear pore complex protein Nup107 |
| P57740 | 417 | 437 | 1 | 925 | Chain | ID=PRO_0000204831;Note=Nuclear pore complex protein Nup107 |
| P57740 | 565 | 578 | 1 | 925 | Chain | ID=PRO_0000204831;Note=Nuclear pore complex protein Nup107 |
| P57740 | 796 | 834 | 1 | 925 | Chain | ID=PRO_0000204831;Note=Nuclear pore complex protein Nup107 |
| P57740 | 796 | 834 | 782 | 821 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CQC |
| P57740 | 796 | 834 | 831 | 831 | Natural variant | ID=VAR_076359;Note=In NPHS11%3B decreased interaction with NUP133%3B changed localization to the nuclear pore with relocalization to the cytoplasm. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26411495;Dbxref=dbSNP:rs864321632,PMID:26411495 |
| P57740 | 796 | 834 | 824 | 826 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CQC |
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SNVs in the skipped exons for NUP107 |
| - 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. |
NUP107_LIHC_exon_skip_85136_psi_boxplot.png |
NUP107_LUAD_exon_skip_85136_psi_boxplot.png |
| - 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-A3A0-01 | exon_skip_85113 | 69084411 | 69084526 | 69084414 | 69084414 | Frame_Shift_Del | C | - | p.T64fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_85118 | 69094506 | 69094633 | 69094562 | 69094562 | Frame_Shift_Del | A | - | p.S203fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_85118 | 69094506 | 69094633 | 69094562 | 69094562 | Frame_Shift_Del | A | - | p.S203fs |
| STAD | TCGA-CG-4304-01 | exon_skip_85120 exon_skip_85121 | 69096516 | 69096564 | 69096558 | 69096558 | Frame_Shift_Del | A | - | p.A241fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_85136 | 69121131 | 69121169 | 69121154 | 69121154 | Frame_Shift_Del | A | - | p.L573fs |
| STAD | TCGA-BR-8361-01 | exon_skip_85138 | 69126417 | 69126519 | 69126428 | 69126428 | Frame_Shift_Del | A | - | p.L670fs |
| STAD | TCGA-BR-8361-01 | exon_skip_85138 | 69126417 | 69126519 | 69126428 | 69126428 | Frame_Shift_Del | A | - | p.L670X |
| LIHC | TCGA-DD-A39X-01 | exon_skip_85113 | 69084411 | 69084526 | 69084425 | 69084425 | Nonsense_Mutation | C | T | p.R68* |
| COAD | TCGA-CA-6717-01 | exon_skip_85118 | 69094506 | 69094633 | 69094533 | 69094533 | Nonsense_Mutation | C | T | p.R194X |
| UCS | TCGA-ND-A4WC-01 | exon_skip_85120 exon_skip_85121 | 69096516 | 69096564 | 69096538 | 69096538 | Nonsense_Mutation | G | T | p.E235* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_85120 exon_skip_85121 | 69096516 | 69096564 | 69096538 | 69096538 | Nonsense_Mutation | G | T | p.E235X |
| UCEC | TCGA-AP-A056-01 | exon_skip_85123 | 69103018 | 69103089 | 69103078 | 69103078 | Nonsense_Mutation | C | T | p.R264* |
| LUAD | TCGA-55-8204-01 | exon_skip_85136 | 69121131 | 69121169 | 69121134 | 69121134 | Nonsense_Mutation | G | T | p.E567* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-55-8204-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_85136 | |
| Skipped exon start: 69121131 | |
| Skipped exon end: 69121169 | |
| Mutation start: 69121134 | |
| Mutation end: 69121134 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E567* | |
exon_skip_85136_LUAD_TCGA-55-8204-01.png | |
| - 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 |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69085748 | 69085892 | 69085788 | 69085788 | Missense_Mutation | C | T | p.S115L |
| KU1919_URINARY_TRACT | 69085748 | 69085892 | 69085829 | 69085829 | Missense_Mutation | A | G | p.S129G |
| CW2_LARGE_INTESTINE | 69094506 | 69094633 | 69094587 | 69094587 | Missense_Mutation | C | A | p.L212I |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69094506 | 69094633 | 69094603 | 69094603 | Missense_Mutation | T | G | p.V217G |
| MDAMB134VI_BREAST | 69094506 | 69094633 | 69094630 | 69094630 | Missense_Mutation | A | G | p.Y226C |
| 22RV1_PROSTATE | 69103018 | 69103089 | 69103030 | 69103030 | Missense_Mutation | A | G | p.S248G |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69119507 | 69119576 | 69119541 | 69119541 | Missense_Mutation | T | C | p.I514T |
| JHUEM7_ENDOMETRIUM | 69119507 | 69119576 | 69119555 | 69119555 | Missense_Mutation | C | A | p.L519I |
| CAMA1_BREAST | 69121131 | 69121169 | 69121141 | 69121141 | Missense_Mutation | C | A | p.S569Y |
| MFE296_ENDOMETRIUM | 69126417 | 69126519 | 69126424 | 69126424 | Missense_Mutation | G | A | p.R669H |
| LCLC103H_LUNG | 69126417 | 69126519 | 69126449 | 69126449 | Missense_Mutation | G | T | p.W677C |
| GP5D_LARGE_INTESTINE | 69129011 | 69129124 | 69129041 | 69129041 | Missense_Mutation | G | A | p.D807N |
| SNUC2A_LARGE_INTESTINE | 69129011 | 69129124 | 69129064 | 69129064 | Missense_Mutation | G | T | p.K814N |
| SNUC2B_LARGE_INTESTINE | 69129011 | 69129124 | 69129064 | 69129064 | Missense_Mutation | G | T | p.K814N |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69129011 | 69129124 | 69129080 | 69129080 | Missense_Mutation | G | A | p.V820I |
| KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69085748 | 69085892 | 69085748 | 69085748 | Splice_Site | G | A | p.V102I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NUP107 |
| 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 NUP107 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NUP107 |
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RelatedDrugs for NUP107 |
| 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 NUP107 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| NUP107 | C4225228 | NEPHROTIC SYNDROME, TYPE 11 | 1 | UNIPROT |
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