|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for NUP93 |
 Gene summary |
| Gene information | Gene symbol | NUP93 | Gene ID | 9688 |
| Gene name | nucleoporin 93 | |
| Synonyms | NIC96 | |
| Cytomap | 16q13 | |
| Type of gene | protein-coding | |
| Description | nuclear pore complex protein Nup9393 kDa nucleoporinnucleoporin 93kDanucleoporin Nup93 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8N1F7 | |
| Context | PubMed: NUP93 [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 |
| NUP93 | GO:0006998 | nuclear envelope organization | 26878725 |
| NUP93 | GO:0051292 | nuclear pore complex assembly | 26878725 |
| NUP93 | GO:0060391 | positive regulation of SMAD protein signal transduction | 26878725 |
| NUP93 | GO:0060395 | SMAD protein signal transduction | 26878725 |
Top |
Exon skipping events across known transcript of Ensembl for NUP93 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. |
 |
Top |
Gene isoform structures and expression levels for NUP93 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for NUP93 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_136678 | 16 | 56764060:56764123:56775691:56775729:56782145:56782178 | 56775691:56775729 | ENSG00000102900.8 | ENST00000566315.1 |
| exon_skip_136679 | 16 | 56764060:56764123:56782145:56782338:56792449:56792567 | 56782145:56782338 | ENSG00000102900.8 | ENST00000569842.1 |
| exon_skip_136683 | 16 | 56764060:56764123:56792449:56792567:56832387:56832450 | 56792449:56792567 | ENSG00000102900.8 | ENST00000569863.1 |
| exon_skip_136687 | 16 | 56782260:56782338:56792449:56792567:56832387:56832450 | 56792449:56792567 | ENSG00000102900.8 | ENST00000566678.1,ENST00000562496.1,ENST00000566315.1,ENST00000568656.1,ENST00000308159.5,ENST00000569842.1 |
| exon_skip_136689 | 16 | 56792449:56792567:56832387:56832450:56839415:56839464 | 56832387:56832450 | ENSG00000102900.8 | ENST00000566678.1,ENST00000562496.1,ENST00000566315.1,ENST00000569863.1,ENST00000568656.1,ENST00000308159.5,ENST00000569842.1 |
| exon_skip_136692 | 16 | 56815740:56816126:56832387:56832450:56852575:56852621 | 56832387:56832450 | ENSG00000102900.8 | ENST00000566727.1 |
| exon_skip_136693 | 16 | 56832387:56832450:56839415:56839544:56852575:56852621 | 56839415:56839544 | ENSG00000102900.8 | ENST00000564887.1,ENST00000569863.1,ENST00000567641.1,ENST00000568656.1,ENST00000542526.1,ENST00000308159.5,ENST00000569842.1 |
| exon_skip_136694 | 16 | 56839415:56839544:56852575:56852650:56855415:56855454 | 56852575:56852650 | ENSG00000102900.8 | ENST00000564887.1,ENST00000569863.1,ENST00000567641.1,ENST00000542526.1,ENST00000308159.5,ENST00000569842.1 |
| exon_skip_136695 | 16 | 56852575:56852650:56855415:56855505:56857618:56857710 | 56855415:56855505 | ENSG00000102900.8 | ENST00000564887.1,ENST00000569863.1,ENST00000567641.1,ENST00000542526.1,ENST00000308159.5,ENST00000569842.1 |
| exon_skip_136696 | 16 | 56866206:56866300:56867126:56867318:56868039:56868166 | 56867126:56867318 | ENSG00000102900.8 | ENST00000564887.1,ENST00000542526.1,ENST00000308159.5,ENST00000569842.1 |
| exon_skip_136697 | 16 | 56867126:56867318:56868039:56868166:56868281:56868354 | 56868039:56868166 | ENSG00000102900.8 | ENST00000564887.1,ENST00000542526.1,ENST00000308159.5,ENST00000569842.1 |
| exon_skip_136699 | 16 | 56868645:56868690:56870512:56870629:56871519:56871638 | 56870512:56870629 | ENSG00000102900.8 | ENST00000564887.1,ENST00000542526.1,ENST00000308159.5,ENST00000569842.1 |
| exon_skip_136716 | 16 | 56870536:56870629:56871519:56871638:56872863:56872981 | 56871519:56871638 | ENSG00000102900.8 | ENST00000563405.1,ENST00000564887.1,ENST00000542526.1,ENST00000308159.5,ENST00000569842.1 |
| exon_skip_136731 | 16 | 56871536:56871638:56872863:56872981:56873432:56873516 | 56872863:56872981 | ENSG00000102900.8 | ENST00000564887.1,ENST00000563486.1,ENST00000542526.1,ENST00000308159.5,ENST00000569842.1 |
| exon_skip_136740 | 16 | 56872921:56872981:56873432:56873516:56875616:56875745 | 56873432:56873516 | ENSG00000102900.8 | ENST00000564887.1,ENST00000542526.1,ENST00000308159.5,ENST00000569842.1 |
| exon_skip_136742 | 16 | 56872921:56872981:56873432:56873516:56878410:56878664 | 56873432:56873516 | ENSG00000102900.8 | ENST00000569322.1 |
| exon_skip_136745 | 16 | 56873432:56873516:56875616:56875745:56878410:56878664 | 56875616:56875745 | ENSG00000102900.8 | ENST00000564278.1,ENST00000564887.1,ENST00000542526.1,ENST00000308159.5 |
| exon_skip_136749 | 16 | 56875673:56875745:56876489:56876607:56878410:56878664 | 56876489:56876607 | ENSG00000102900.8 | ENST00000569842.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for NUP93 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_136678 | 16 | 56764060:56764123:56775691:56775729:56782145:56782178 | 56775691:56775729 | ENSG00000102900.8 | ENST00000566315.1 |
| exon_skip_136679 | 16 | 56764060:56764123:56782145:56782338:56792449:56792567 | 56782145:56782338 | ENSG00000102900.8 | ENST00000569842.1 |
| exon_skip_136687 | 16 | 56782260:56782338:56792449:56792567:56832387:56832450 | 56792449:56792567 | ENSG00000102900.8 | ENST00000308159.5,ENST00000566315.1,ENST00000569842.1,ENST00000562496.1,ENST00000568656.1,ENST00000566678.1 |
| exon_skip_136689 | 16 | 56792449:56792567:56832387:56832450:56839415:56839464 | 56832387:56832450 | ENSG00000102900.8 | ENST00000308159.5,ENST00000566315.1,ENST00000569842.1,ENST00000569863.1,ENST00000562496.1,ENST00000568656.1,ENST00000566678.1 |
| exon_skip_136692 | 16 | 56815740:56816126:56832387:56832450:56852575:56852621 | 56832387:56832450 | ENSG00000102900.8 | ENST00000566727.1 |
| exon_skip_136693 | 16 | 56832387:56832450:56839415:56839544:56852575:56852621 | 56839415:56839544 | ENSG00000102900.8 | ENST00000308159.5,ENST00000569842.1,ENST00000569863.1,ENST00000568656.1,ENST00000564887.1,ENST00000567641.1,ENST00000542526.1 |
| exon_skip_136694 | 16 | 56839415:56839544:56852575:56852650:56855415:56855454 | 56852575:56852650 | ENSG00000102900.8 | ENST00000308159.5,ENST00000569842.1,ENST00000569863.1,ENST00000564887.1,ENST00000567641.1,ENST00000542526.1 |
| exon_skip_136695 | 16 | 56852575:56852650:56855415:56855505:56857618:56857710 | 56855415:56855505 | ENSG00000102900.8 | ENST00000308159.5,ENST00000569842.1,ENST00000569863.1,ENST00000564887.1,ENST00000567641.1,ENST00000542526.1 |
| exon_skip_136697 | 16 | 56867126:56867318:56868039:56868166:56868281:56868354 | 56868039:56868166 | ENSG00000102900.8 | ENST00000308159.5,ENST00000569842.1,ENST00000564887.1,ENST00000542526.1 |
| exon_skip_136699 | 16 | 56868645:56868690:56870512:56870629:56871519:56871638 | 56870512:56870629 | ENSG00000102900.8 | ENST00000308159.5,ENST00000569842.1,ENST00000564887.1,ENST00000542526.1 |
| exon_skip_136716 | 16 | 56870536:56870629:56871519:56871638:56872863:56872981 | 56871519:56871638 | ENSG00000102900.8 | ENST00000308159.5,ENST00000569842.1,ENST00000564887.1,ENST00000542526.1,ENST00000563405.1 |
| exon_skip_136731 | 16 | 56871536:56871638:56872863:56872981:56873432:56873516 | 56872863:56872981 | ENSG00000102900.8 | ENST00000308159.5,ENST00000569842.1,ENST00000564887.1,ENST00000542526.1,ENST00000563486.1 |
| exon_skip_136740 | 16 | 56872921:56872981:56873432:56873516:56875616:56875745 | 56873432:56873516 | ENSG00000102900.8 | ENST00000308159.5,ENST00000569842.1,ENST00000564887.1,ENST00000542526.1 |
| exon_skip_136742 | 16 | 56872921:56872981:56873432:56873516:56878410:56878664 | 56873432:56873516 | ENSG00000102900.8 | ENST00000569322.1 |
| exon_skip_136745 | 16 | 56873432:56873516:56875616:56875745:56878410:56878664 | 56875616:56875745 | ENSG00000102900.8 | ENST00000308159.5,ENST00000564887.1,ENST00000542526.1,ENST00000564278.1 |
| exon_skip_136749 | 16 | 56875673:56875745:56876489:56876607:56878410:56878664 | 56876489:56876607 | ENSG00000102900.8 | ENST00000569842.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for NUP93 |
| 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 |
| ENST00000308159 | 56792449 | 56792567 | Frame-shift |
| ENST00000308159 | 56868039 | 56868166 | Frame-shift |
| ENST00000308159 | 56871519 | 56871638 | Frame-shift |
| ENST00000308159 | 56872863 | 56872981 | Frame-shift |
| ENST00000308159 | 56832387 | 56832450 | In-frame |
| ENST00000308159 | 56839415 | 56839544 | In-frame |
| ENST00000308159 | 56852575 | 56852650 | In-frame |
| ENST00000308159 | 56855415 | 56855505 | In-frame |
| ENST00000308159 | 56867126 | 56867318 | In-frame |
| ENST00000308159 | 56870512 | 56870629 | In-frame |
| ENST00000308159 | 56873432 | 56873516 | In-frame |
| ENST00000308159 | 56875616 | 56875745 | 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 |
| ENST00000308159 | 56792449 | 56792567 | Frame-shift |
| ENST00000308159 | 56868039 | 56868166 | Frame-shift |
| ENST00000308159 | 56871519 | 56871638 | Frame-shift |
| ENST00000308159 | 56872863 | 56872981 | Frame-shift |
| ENST00000308159 | 56832387 | 56832450 | In-frame |
| ENST00000308159 | 56839415 | 56839544 | In-frame |
| ENST00000308159 | 56852575 | 56852650 | In-frame |
| ENST00000308159 | 56855415 | 56855505 | In-frame |
| ENST00000308159 | 56870512 | 56870629 | In-frame |
| ENST00000308159 | 56873432 | 56873516 | In-frame |
| ENST00000308159 | 56875616 | 56875745 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for NUP93 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000308159 | 2758 | 819 | 56832387 | 56832450 | 419 | 481 | 99 | 120 |
| ENST00000308159 | 2758 | 819 | 56839415 | 56839544 | 482 | 610 | 120 | 163 |
| ENST00000308159 | 2758 | 819 | 56852575 | 56852650 | 611 | 685 | 163 | 188 |
| ENST00000308159 | 2758 | 819 | 56855415 | 56855505 | 686 | 775 | 188 | 218 |
| ENST00000308159 | 2758 | 819 | 56867126 | 56867318 | 1467 | 1658 | 448 | 512 |
| ENST00000308159 | 2758 | 819 | 56870512 | 56870629 | 1904 | 2020 | 594 | 633 |
| ENST00000308159 | 2758 | 819 | 56873432 | 56873516 | 2258 | 2341 | 712 | 740 |
| ENST00000308159 | 2758 | 819 | 56875616 | 56875745 | 2342 | 2470 | 740 | 783 |
| 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 |
| ENST00000308159 | 2758 | 819 | 56832387 | 56832450 | 419 | 481 | 99 | 120 |
| ENST00000308159 | 2758 | 819 | 56839415 | 56839544 | 482 | 610 | 120 | 163 |
| ENST00000308159 | 2758 | 819 | 56852575 | 56852650 | 611 | 685 | 163 | 188 |
| ENST00000308159 | 2758 | 819 | 56855415 | 56855505 | 686 | 775 | 188 | 218 |
| ENST00000308159 | 2758 | 819 | 56870512 | 56870629 | 1904 | 2020 | 594 | 633 |
| ENST00000308159 | 2758 | 819 | 56873432 | 56873516 | 2258 | 2341 | 712 | 740 |
| ENST00000308159 | 2758 | 819 | 56875616 | 56875745 | 2342 | 2470 | 740 | 783 |
| 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 |
| Q8N1F7 | 99 | 120 | 1 | 123 | Alternative sequence | ID=VSP_043117;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8N1F7 | 99 | 120 | 1 | 819 | Chain | ID=PRO_0000124782;Note=Nuclear pore complex protein Nup93 |
| Q8N1F7 | 120 | 163 | 1 | 123 | Alternative sequence | ID=VSP_043117;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8N1F7 | 120 | 163 | 1 | 819 | Chain | ID=PRO_0000124782;Note=Nuclear pore complex protein Nup93 |
| Q8N1F7 | 163 | 188 | 1 | 819 | Chain | ID=PRO_0000124782;Note=Nuclear pore complex protein Nup93 |
| Q8N1F7 | 188 | 218 | 1 | 819 | Chain | ID=PRO_0000124782;Note=Nuclear pore complex protein Nup93 |
| Q8N1F7 | 448 | 512 | 1 | 819 | Chain | ID=PRO_0000124782;Note=Nuclear pore complex protein Nup93 |
| Q8N1F7 | 448 | 512 | 509 | 509 | Natural variant | ID=VAR_028160;Note=S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17853288,PMID:15489334 |
| Q8N1F7 | 594 | 633 | 1 | 819 | Chain | ID=PRO_0000124782;Note=Nuclear pore complex protein Nup93 |
| Q8N1F7 | 594 | 633 | 629 | 629 | Natural variant | ID=VAR_076475;Note=In NPHS12%3B doesnt affect nuclear envelope localization%3B doesn't affect nuclear pore complex assembly%3B doesn't abrogate interaction with NUP205%3B abrogates SMAD4 interaction%3B abrogates IPO7 interaction%3B impairs SMAD4 protein i |
| Q8N1F7 | 712 | 740 | 1 | 819 | Chain | ID=PRO_0000124782;Note=Nuclear pore complex protein Nup93 |
| Q8N1F7 | 740 | 783 | 1 | 819 | Chain | ID=PRO_0000124782;Note=Nuclear pore complex protein Nup93 |
| Q8N1F7 | 740 | 783 | 767 | 767 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| 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 |
| Q8N1F7 | 99 | 120 | 1 | 123 | Alternative sequence | ID=VSP_043117;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8N1F7 | 99 | 120 | 1 | 819 | Chain | ID=PRO_0000124782;Note=Nuclear pore complex protein Nup93 |
| Q8N1F7 | 120 | 163 | 1 | 123 | Alternative sequence | ID=VSP_043117;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8N1F7 | 120 | 163 | 1 | 819 | Chain | ID=PRO_0000124782;Note=Nuclear pore complex protein Nup93 |
| Q8N1F7 | 163 | 188 | 1 | 819 | Chain | ID=PRO_0000124782;Note=Nuclear pore complex protein Nup93 |
| Q8N1F7 | 188 | 218 | 1 | 819 | Chain | ID=PRO_0000124782;Note=Nuclear pore complex protein Nup93 |
| Q8N1F7 | 594 | 633 | 1 | 819 | Chain | ID=PRO_0000124782;Note=Nuclear pore complex protein Nup93 |
| Q8N1F7 | 594 | 633 | 629 | 629 | Natural variant | ID=VAR_076475;Note=In NPHS12%3B doesnt affect nuclear envelope localization%3B doesn't affect nuclear pore complex assembly%3B doesn't abrogate interaction with NUP205%3B abrogates SMAD4 interaction%3B abrogates IPO7 interaction%3B impairs SMAD4 protein i |
| Q8N1F7 | 712 | 740 | 1 | 819 | Chain | ID=PRO_0000124782;Note=Nuclear pore complex protein Nup93 |
| Q8N1F7 | 740 | 783 | 1 | 819 | Chain | ID=PRO_0000124782;Note=Nuclear pore complex protein Nup93 |
| Q8N1F7 | 740 | 783 | 767 | 767 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Top |
SNVs in the skipped exons for NUP93 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - Differential PSIs between mutated versus non-mutated samples. |
NUP93_COAD_exon_skip_136696_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-A39Y-01 | exon_skip_136716 | 56871520 | 56871638 | 56871570 | 56871570 | Frame_Shift_Del | C | - | p.V527fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_136731 | 56872864 | 56872981 | 56872937 | 56872937 | Frame_Shift_Del | T | - | p.F576fs |
| STAD | TCGA-F1-6177-01 | exon_skip_136731 | 56872864 | 56872981 | 56872937 | 56872937 | Frame_Shift_Del | T | - | p.T697fs |
| BLCA | TCGA-CF-A47X-01 | exon_skip_136679 | 56782146 | 56782338 | 56782202 | 56782202 | Nonsense_Mutation | C | T | p.Q15* |
| BLCA | TCGA-E5-A4U1-01 | exon_skip_136679 | 56782146 | 56782338 | 56782202 | 56782202 | Nonsense_Mutation | C | T | p.Q15* |
| BLCA | TCGA-FD-A6TF-01 | exon_skip_136679 | 56782146 | 56782338 | 56782202 | 56782202 | Nonsense_Mutation | C | T | p.Q15* |
| THCA | TCGA-BJ-A191-01 | exon_skip_136679 | 56782146 | 56782338 | 56782202 | 56782202 | Nonsense_Mutation | C | T | p.Q15* |
| THCA | TCGA-DJ-A2Q4-01 | exon_skip_136679 | 56782146 | 56782338 | 56782202 | 56782202 | Nonsense_Mutation | C | T | p.Q15* |
| THCA | TCGA-DJ-A2Q4-01 | exon_skip_136679 | 56782146 | 56782338 | 56782202 | 56782202 | Nonsense_Mutation | C | T | p.Q15X |
| THCA | TCGA-EM-A4FQ-01 | exon_skip_136679 | 56782146 | 56782338 | 56782202 | 56782202 | Nonsense_Mutation | C | T | p.Q15* |
| THCA | TCGA-EM-A4FQ-01 | exon_skip_136679 | 56782146 | 56782338 | 56782202 | 56782202 | Nonsense_Mutation | C | T | p.Q15X |
| UCEC | TCGA-BK-A0C9-01 | exon_skip_136679 | 56782146 | 56782338 | 56782202 | 56782202 | Nonsense_Mutation | C | T | p.Q15* |
| STAD | TCGA-CD-A4MG-01 | exon_skip_136679 | 56782146 | 56782338 | 56782280 | 56782280 | Nonsense_Mutation | G | T | p.E41* |
| LUSC | TCGA-21-5782-01 | exon_skip_136683 exon_skip_136687 | 56792450 | 56792567 | 56792532 | 56792532 | Nonsense_Mutation | G | T | p.E88* |
| ESCA | TCGA-R6-A8WG-01 | exon_skip_136693 | 56839416 | 56839544 | 56839482 | 56839482 | Nonsense_Mutation | C | T | p.R143* |
| LUAD | TCGA-17-Z031-01 | exon_skip_136716 | 56871520 | 56871638 | 56871538 | 56871538 | Nonsense_Mutation | G | T | p.E517* |
| HNSC | TCGA-CX-7085-01 | exon_skip_136693 | 56839416 | 56839544 | 56839414 | 56839414 | Splice_Site | A | T | p.T121_splice |
| COAD | TCGA-G4-6588-01 | exon_skip_136696 | 56867127 | 56867318 | 56867319 | 56867319 | Splice_Site | G | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-G4-6588-01 |
| Cancer type: COAD | |
| ESID: exon_skip_136696 | |
| Skipped exon start: 56867127 | |
| Skipped exon end: 56867318 | |
| Mutation start: 56867319 | |
| Mutation end: 56867319 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: . | |
exon_skip_135806_COAD_TCGA-G4-6588-01.png | |
exon_skip_136696_COAD_TCGA-G4-6588-01.png | |
exon_skip_313058_COAD_TCGA-G4-6588-01.png | |
exon_skip_322889_COAD_TCGA-G4-6588-01.png | |
exon_skip_322890_COAD_TCGA-G4-6588-01.png | |
exon_skip_330818_COAD_TCGA-G4-6588-01.png | |
exon_skip_382354_COAD_TCGA-G4-6588-01.png | |
exon_skip_386802_COAD_TCGA-G4-6588-01.png | |
exon_skip_4028_COAD_TCGA-G4-6588-01.png | |
exon_skip_434039_COAD_TCGA-G4-6588-01.png | |
exon_skip_434040_COAD_TCGA-G4-6588-01.png | |
exon_skip_5121_COAD_TCGA-G4-6588-01.png | |
exon_skip_5861_COAD_TCGA-G4-6588-01.png | |
exon_skip_68768_COAD_TCGA-G4-6588-01.png | |
exon_skip_76742_COAD_TCGA-G4-6588-01.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 |
| IM95_STOMACH | 56872864 | 56872981 | 56872937 | 56872937 | Frame_Shift_Del | T | - | p.F699fs |
| SNU1040_LARGE_INTESTINE | 56872864 | 56872981 | 56872937 | 56872937 | Frame_Shift_Del | T | - | p.F699fs |
| NCIH1355_LUNG | 56782146 | 56782338 | 56782208 | 56782208 | Missense_Mutation | G | A | p.A17T |
| EVSAT_BREAST | 56782146 | 56782338 | 56782281 | 56782281 | Missense_Mutation | A | G | p.E41G |
| MFE296_ENDOMETRIUM | 56782146 | 56782338 | 56782323 | 56782323 | Missense_Mutation | C | T | p.T55M |
| COLO792_SKIN | 56792450 | 56792567 | 56792458 | 56792458 | Missense_Mutation | T | A | p.L63H |
| MMACSF_SKIN | 56792450 | 56792567 | 56792469 | 56792469 | Missense_Mutation | C | T | p.R67W |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56832388 | 56832450 | 56832427 | 56832427 | Missense_Mutation | G | A | p.A113T |
| HCC2998_LARGE_INTESTINE | 56832388 | 56832450 | 56832433 | 56832433 | Missense_Mutation | G | A | p.E115K |
| HGC27_STOMACH | 56839416 | 56839544 | 56839428 | 56839428 | Missense_Mutation | G | C | p.A125P |
| KU1919_URINARY_TRACT | 56839416 | 56839544 | 56839441 | 56839441 | Missense_Mutation | A | T | p.H129L |
| KMH2_THYROID | 56839416 | 56839544 | 56839441 | 56839441 | Missense_Mutation | A | T | p.H129L |
| TMK1_STOMACH | 56839416 | 56839544 | 56839441 | 56839441 | Missense_Mutation | A | T | p.H129L |
| SKNO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56839416 | 56839544 | 56839441 | 56839441 | Missense_Mutation | A | T | p.H129L |
| HCC2998_LARGE_INTESTINE | 56839416 | 56839544 | 56839476 | 56839476 | Missense_Mutation | A | C | p.K141Q |
| PA1_OVARY | 56855416 | 56855505 | 56855426 | 56855426 | Missense_Mutation | A | G | p.Y192C |
| EN_ENDOMETRIUM | 56855416 | 56855505 | 56855473 | 56855473 | Missense_Mutation | C | A | p.L208I |
| 22RV1_PROSTATE | 56867127 | 56867318 | 56867223 | 56867223 | Missense_Mutation | G | A | p.R481H |
| COLO678_LARGE_INTESTINE | 56867127 | 56867318 | 56867238 | 56867238 | Missense_Mutation | G | C | p.R486P |
| AGS_STOMACH | 56867127 | 56867318 | 56867295 | 56867295 | Missense_Mutation | C | A | p.S505Y |
| SNU1040_LARGE_INTESTINE | 56868040 | 56868166 | 56868067 | 56868067 | Missense_Mutation | G | C | p.C522S |
| NCIH1869_LUNG | 56870513 | 56870629 | 56870542 | 56870542 | Missense_Mutation | C | G | p.D604E |
| CCK81_LARGE_INTESTINE | 56870513 | 56870629 | 56870547 | 56870547 | Missense_Mutation | A | T | p.K606M |
| A388_SKIN | 56870513 | 56870629 | 56870558 | 56870558 | Missense_Mutation | A | C | p.N610H |
| OC316_OVARY | 56872864 | 56872981 | 56872869 | 56872869 | Missense_Mutation | G | T | p.R675M |
| OC314_OVARY | 56872864 | 56872981 | 56872869 | 56872869 | Missense_Mutation | G | T | p.R675M |
| HCC33_LUNG | 56872864 | 56872981 | 56872929 | 56872929 | Missense_Mutation | T | C | p.L695S |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56872864 | 56872981 | 56872974 | 56872974 | Missense_Mutation | C | T | p.A710V |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NUP93 |
| 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 |
| exon_skip_136695 | 16 | 56852575:56852650:56855415:56855505:56857618:56857710 | 56855415:56855505 | ENST00000564887.1,ENST00000569863.1,ENST00000567641.1,ENST00000542526.1,ENST00000308159.5,ENST00000569842.1 | PCPG | rs2118017 | chr16:56855496 | C/G | 3.18e-04 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NUP93 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NUP93 |
Top |
RelatedDrugs for NUP93 |
| 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 |
Top |
RelatedDiseases for NUP93 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| NUP93 | C1868672 | NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE | 1 | CTD_human |
| NUP93 | C4225166 | NEPHROTIC SYNDROME, TYPE 12 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|