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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 NUP210 |
Gene summary |
| Gene information | Gene symbol | NUP210 | Gene ID | 23225 |
| Gene name | nucleoporin 210 | |
| Synonyms | GP210|POM210 | |
| Cytomap | 3p25.1 | |
| Type of gene | protein-coding | |
| Description | nuclear pore membrane glycoprotein 210nuclear envelope pore membrane protein POM 210nuclear pore protein gp210nucleoporin 210kDanucleoporin Nup210pore membrane protein of 210 kDa | |
| Modification date | 20180523 | |
| UniProtAcc | Q8TEM1 | |
| Context | PubMed: NUP210 [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 NUP210 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 NUP210 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for NUP210 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_381470 | 3 | 13370270:13370446:13371959:13372134:13373792:13373884 | 13371959:13372134 | ENSG00000132182.7 | ENST00000254508.5 |
| exon_skip_381471 | 3 | 13373792:13373884:13376953:13377112:13378286:13378418 | 13376953:13377112 | ENSG00000132182.7 | ENST00000254508.5 |
| exon_skip_381475 | 3 | 13381353:13381533:13381735:13381798:13383247:13383383 | 13381735:13381798 | ENSG00000132182.7 | ENST00000254508.5 |
| exon_skip_381477 | 3 | 13381735:13381798:13383247:13383383:13383495:13383623 | 13383247:13383383 | ENSG00000132182.7 | ENST00000254508.5 |
| exon_skip_381509 | 3 | 13407445:13407591:13413333:13413532:13415217:13415373 | 13413333:13413532 | ENSG00000132182.7 | ENST00000254508.5,ENST00000420141.2 |
| exon_skip_381512 | 3 | 13413333:13413532:13415217:13415373:13417003:13417141 | 13415217:13415373 | ENSG00000132182.7 | ENST00000254508.5,ENST00000420141.2 |
| exon_skip_381513 | 3 | 13421062:13421221:13427774:13427907:13429802:13429953 | 13427774:13427907 | ENSG00000132182.7 | ENST00000254508.5,ENST00000420141.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NUP210 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_381470 | 3 | 13370270:13370446:13371959:13372134:13373792:13373884 | 13371959:13372134 | ENSG00000132182.7 | ENST00000254508.5 |
| exon_skip_381471 | 3 | 13373792:13373884:13376953:13377112:13378286:13378418 | 13376953:13377112 | ENSG00000132182.7 | ENST00000254508.5 |
| exon_skip_381475 | 3 | 13381353:13381533:13381735:13381798:13383247:13383383 | 13381735:13381798 | ENSG00000132182.7 | ENST00000254508.5 |
| exon_skip_381477 | 3 | 13381735:13381798:13383247:13383383:13383495:13383623 | 13383247:13383383 | ENSG00000132182.7 | ENST00000254508.5 |
| exon_skip_381509 | 3 | 13407445:13407591:13413333:13413532:13415217:13415373 | 13413333:13413532 | ENSG00000132182.7 | ENST00000254508.5,ENST00000420141.2 |
| exon_skip_381512 | 3 | 13413333:13413532:13415217:13415373:13417003:13417141 | 13415217:13415373 | ENSG00000132182.7 | ENST00000254508.5,ENST00000420141.2 |
| exon_skip_381513 | 3 | 13421062:13421221:13427774:13427907:13429802:13429953 | 13427774:13427907 | ENSG00000132182.7 | ENST00000254508.5,ENST00000420141.2 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for NUP210 |
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 |
| ENST00000254508 | 13371959 | 13372134 | Frame-shift |
| ENST00000254508 | 13383247 | 13383383 | Frame-shift |
| ENST00000254508 | 13413333 | 13413532 | Frame-shift |
| ENST00000254508 | 13427774 | 13427907 | Frame-shift |
| ENST00000254508 | 13376953 | 13377112 | In-frame |
| ENST00000254508 | 13381735 | 13381798 | In-frame |
| ENST00000254508 | 13415217 | 13415373 | 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 |
| ENST00000254508 | 13371959 | 13372134 | Frame-shift |
| ENST00000254508 | 13383247 | 13383383 | Frame-shift |
| ENST00000254508 | 13413333 | 13413532 | Frame-shift |
| ENST00000254508 | 13427774 | 13427907 | Frame-shift |
| ENST00000254508 | 13376953 | 13377112 | In-frame |
| ENST00000254508 | 13381735 | 13381798 | In-frame |
| ENST00000254508 | 13415217 | 13415373 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NUP210 |
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 |
| ENST00000254508 | 7208 | 1887 | 13415217 | 13415373 | 1515 | 1670 | 477 | 529 |
| ENST00000254508 | 7208 | 1887 | 13381735 | 13381798 | 3312 | 3374 | 1076 | 1097 |
| ENST00000254508 | 7208 | 1887 | 13376953 | 13377112 | 3768 | 3926 | 1228 | 1281 |
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 |
| ENST00000254508 | 7208 | 1887 | 13415217 | 13415373 | 1515 | 1670 | 477 | 529 |
| ENST00000254508 | 7208 | 1887 | 13381735 | 13381798 | 3312 | 3374 | 1076 | 1097 |
| ENST00000254508 | 7208 | 1887 | 13376953 | 13377112 | 3768 | 3926 | 1228 | 1281 |
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 |
| Q8TEM1 | 477 | 529 | 27 | 1887 | Chain | ID=PRO_0000236046;Note=Nuclear pore membrane glycoprotein 210 |
| Q8TEM1 | 477 | 529 | 486 | 491 | Compositional bias | Note=Poly-Ser |
| Q8TEM1 | 477 | 529 | 484 | 484 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TEM1 | 477 | 529 | 27 | 1808 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TEM1 | 1076 | 1097 | 968 | 1887 | Alternative sequence | ID=VSP_018568;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q8TEM1 | 1076 | 1097 | 27 | 1887 | Chain | ID=PRO_0000236046;Note=Nuclear pore membrane glycoprotein 210 |
| Q8TEM1 | 1076 | 1097 | 1078 | 1151 | Domain | Note=BIG2;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TEM1 | 1076 | 1097 | 1096 | 1096 | Natural variant | ID=VAR_028152;Note=M->I;Dbxref=dbSNP:rs2271505 |
| Q8TEM1 | 1076 | 1097 | 27 | 1808 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TEM1 | 1228 | 1281 | 968 | 1887 | Alternative sequence | ID=VSP_018568;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q8TEM1 | 1228 | 1281 | 27 | 1887 | Chain | ID=PRO_0000236046;Note=Nuclear pore membrane glycoprotein 210 |
| Q8TEM1 | 1228 | 1281 | 27 | 1808 | Topological domain | Note=Lumenal;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 |
| Q8TEM1 | 477 | 529 | 27 | 1887 | Chain | ID=PRO_0000236046;Note=Nuclear pore membrane glycoprotein 210 |
| Q8TEM1 | 477 | 529 | 486 | 491 | Compositional bias | Note=Poly-Ser |
| Q8TEM1 | 477 | 529 | 484 | 484 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TEM1 | 477 | 529 | 27 | 1808 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TEM1 | 1076 | 1097 | 968 | 1887 | Alternative sequence | ID=VSP_018568;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q8TEM1 | 1076 | 1097 | 27 | 1887 | Chain | ID=PRO_0000236046;Note=Nuclear pore membrane glycoprotein 210 |
| Q8TEM1 | 1076 | 1097 | 1078 | 1151 | Domain | Note=BIG2;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TEM1 | 1076 | 1097 | 1096 | 1096 | Natural variant | ID=VAR_028152;Note=M->I;Dbxref=dbSNP:rs2271505 |
| Q8TEM1 | 1076 | 1097 | 27 | 1808 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TEM1 | 1228 | 1281 | 968 | 1887 | Alternative sequence | ID=VSP_018568;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q8TEM1 | 1228 | 1281 | 27 | 1887 | Chain | ID=PRO_0000236046;Note=Nuclear pore membrane glycoprotein 210 |
| Q8TEM1 | 1228 | 1281 | 27 | 1808 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for NUP210 |
- 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. |
- 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_381470 | 13371960 | 13372134 | 13372087 | 13372087 | Frame_Shift_Del | T | - | p.K1328fs |
| COAD | TCGA-AD-6889-01 | exon_skip_381471 | 13376954 | 13377112 | 13377002 | 13377002 | Frame_Shift_Del | C | - | p.Q1266fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_381477 | 13383248 | 13383383 | 13383261 | 13383261 | Frame_Shift_Del | G | - | p.P1072fs |
| BLCA | TCGA-ZF-AA4U-01 | exon_skip_381512 | 13415218 | 13415373 | 13415345 | 13415345 | Nonsense_Mutation | C | T | p.W487* |
| KIRP | TCGA-B9-A8YI-01 | exon_skip_381477 | 13383248 | 13383383 | 13383246 | 13383246 | Splice_Site | A | G | . |
- 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 |
| SW48_LARGE_INTESTINE | 13381736 | 13381798 | 13381788 | 13381788 | Frame_Shift_Del | G | - | p.P1080fs |
| LNCAPCLONEFGC_PROSTATE | 13371960 | 13372134 | 13372016 | 13372016 | Missense_Mutation | C | G | p.E1352Q |
| M14_SKIN | 13376954 | 13377112 | 13376971 | 13376971 | Missense_Mutation | C | T | p.D1276N |
| MDAMB435S_SKIN | 13376954 | 13377112 | 13376971 | 13376971 | Missense_Mutation | C | T | p.D1276N |
| SKNFI_AUTONOMIC_GANGLIA | 13376954 | 13377112 | 13376979 | 13376979 | Missense_Mutation | T | C | p.E1273G |
| CAL72_BONE | 13376954 | 13377112 | 13377060 | 13377060 | Missense_Mutation | C | T | p.R1246Q |
| HCC2450_LUNG | 13376954 | 13377112 | 13377097 | 13377097 | Missense_Mutation | G | A | p.P1234S |
| HEC251_ENDOMETRIUM | 13383248 | 13383383 | 13383276 | 13383276 | Missense_Mutation | C | A | p.R1067I |
| NO11_CENTRAL_NERVOUS_SYSTEM | 13383248 | 13383383 | 13383337 | 13383337 | Missense_Mutation | G | A | p.R1047C |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13383248 | 13383383 | 13383371 | 13383371 | Missense_Mutation | T | G | p.E1035D |
| COLO794_SKIN | 13413334 | 13413532 | 13413376 | 13413376 | Missense_Mutation | C | T | p.A582T |
| COLO800_SKIN | 13413334 | 13413532 | 13413376 | 13413376 | Missense_Mutation | C | T | p.A582T |
| COLO818_SKIN | 13413334 | 13413532 | 13413376 | 13413376 | Missense_Mutation | C | T | p.A582T |
| HCC2108_LUNG | 13413334 | 13413532 | 13413414 | 13413414 | Missense_Mutation | T | A | p.E569V |
| MORCPR_LUNG | 13413334 | 13413532 | 13413414 | 13413414 | Missense_Mutation | T | A | p.E569V |
| MM127_SKIN | 13413334 | 13413532 | 13413427 | 13413427 | Missense_Mutation | C | T | p.G565S |
| MEWO_SKIN | 13413334 | 13413532 | 13413446 | 13413447 | Missense_Mutation | CC | TT | p.R558K |
| MEWO_SKIN | 13413334 | 13413532 | 13413447 | 13413447 | Missense_Mutation | C | T | p.R558K |
| SKOV3_OVARY | 13413334 | 13413532 | 13413507 | 13413507 | Missense_Mutation | A | G | p.M538T |
| EN_ENDOMETRIUM | 13415218 | 13415373 | 13415243 | 13415243 | Missense_Mutation | T | C | p.N521S |
| OC316_OVARY | 13415218 | 13415373 | 13415305 | 13415305 | Missense_Mutation | C | A | p.K500N |
| OC314_OVARY | 13415218 | 13415373 | 13415305 | 13415305 | Missense_Mutation | C | A | p.K500N |
| MFM223_BREAST | 13415218 | 13415373 | 13415339 | 13415339 | Missense_Mutation | G | A | p.S489L |
| SW403_LARGE_INTESTINE | 13427775 | 13427907 | 13427822 | 13427822 | Missense_Mutation | G | A | p.T257I |
| DANG_PANCREAS | 13413334 | 13413532 | 13413520 | 13413520 | Nonsense_Mutation | C | A | p.E534* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NUP210 |
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 NUP210 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NUP210 |
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RelatedDrugs for NUP210 |
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 NUP210 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |