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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for RPN2 |
 Gene summary |
| Gene information | Gene symbol | RPN2 | Gene ID | 6185 |
| Gene name | ribophorin II | |
| Synonyms | RIBIIR|RPN-II|RPNII|SWP1 | |
| Cytomap | 20q11.23 | |
| Type of gene | protein-coding | |
| Description | dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2dolichyl-diphosphooligosaccharide--protein glycosyltransferase 63 kDa subunitoligosaccharyltransferase complex subunit (non-catalytic)ribophorin-2 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for RPN2 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000118705
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000456102.5 | RPN2-205:protein_coding:RPN2 | 4.627102e+00 | 9.176123e-01 | 4.983425e-06 | 5.838737e-05 |
| TC | UP | ENST00000456102.5 | RPN2-205:protein_coding:RPN2 | 1.874892e+00 | 8.057568e-01 | 3.829100e-03 | 2.740028e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for RPN2 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_106008 | chr20 | 37204767:37204901:37207273:37207449:37210047:37210150 | 37207273:37207449 |
| exon_skip_1061 | chr20 | 37234020:37234095:37236580:37236709:37241303:37241417 | 37236580:37236709 |
| exon_skip_127884 | chr20 | 37199050:37199225:37200447:37200494:37203885:37203960 | 37200447:37200494 |
| exon_skip_147361 | chr20 | 37236679:37236709:37238402:37238449:37241303:37241417 | 37238402:37238449 |
| exon_skip_153887 | chr20 | 37210047:37210165:37213760:37213865:37223878:37223969 | 37213760:37213865 |
| exon_skip_17641 | chr20 | 37236682:37236709:37238402:37238449:37241303:37241417 | 37238402:37238449 |
| exon_skip_17827 | chr20 | 37179330:37179369:37184180:37184373:37198397:37198492 | 37184180:37184373 |
| exon_skip_181347 | chr20 | 37229973:37230059:37234020:37234095:37236580:37236709 | 37234020:37234095 |
| exon_skip_184606 | chr20 | 37198397:37198492:37199050:37199225:37203885:37203960 | 37199050:37199225 |
| exon_skip_193094 | chr20 | 37184219:37184373:37199050:37199225:37203885:37203960 | 37199050:37199225 |
| exon_skip_201349 | chr20 | 37232296:37232391:37234020:37234095:37241303:37241417 | 37234020:37234095 |
| exon_skip_211805 | chr20 | 37229973:37230059:37232296:37232391:37234020:37234095 | 37232296:37232391 |
| exon_skip_223174 | chr20 | 37184219:37184373:37198397:37198492:37203885:37203960 | 37198397:37198492 |
| exon_skip_224737 | chr20 | 37236580:37236709:37238402:37238449:37241303:37241417 | 37238402:37238449 |
| exon_skip_22495 | chr20 | 37232296:37232391:37234020:37234095:37236580:37236709 | 37234020:37234095 |
| exon_skip_236280 | chr20 | 37184219:37184373:37198397:37198492:37199050:37199225 | 37198397:37198492 |
| exon_skip_269144 | chr20 | 37198435:37198492:37199050:37199225:37203885:37203960 | 37199050:37199225 |
| exon_skip_280289 | chr20 | 37234020:37234095:37236580:37236709:37241303:37241429 | 37236580:37236709 |
| exon_skip_29784 | chr20 | 37236615:37236709:37238402:37238449:37241303:37241417 | 37238402:37238449 |
| exon_skip_37901 | chr20 | 37229991:37230059:37232296:37232391:37234020:37234095 | 37232296:37232391 |
| exon_skip_63982 | chr20 | 37229991:37230059:37234020:37234095:37236580:37236709 | 37234020:37234095 |
| exon_skip_68900 | chr20 | 37198476:37198492:37199050:37199225:37203885:37203960 | 37199050:37199225 |
| exon_skip_97264 | chr20 | 37198401:37198492:37199050:37199225:37203885:37203960 | 37199050:37199225 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_224737 | MSBB_STG | 3.776923e-01 | 5.104167e-01 | -1.327244e-01 | 3.340566e-02 |
| exon_skip_224737 | MSBB_PG | 2.295620e-01 | 4.133333e-01 | -1.837713e-01 | 6.993904e-06 |
| exon_skip_147361 | Mayo_CB | 2.578049e-01 | 3.754545e-01 | -1.176497e-01 | 2.094375e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for RPN2 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000237530 | 37184180 | 37184373 | Frame-shift |
| ENST00000237530 | 37199050 | 37199225 | Frame-shift |
| ENST00000237530 | 37213760 | 37213865 | Frame-shift |
| ENST00000237530 | 37234020 | 37234095 | Frame-shift |
| ENST00000237530 | 37236580 | 37236709 | Frame-shift |
| ENST00000237530 | 37198397 | 37198492 | In-frame |
| ENST00000237530 | 37207273 | 37207449 | In-frame |
| ENST00000237530 | 37232296 | 37232391 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000237530 | 37199050 | 37199225 | Frame-shift |
| ENST00000237530 | 37207273 | 37207449 | In-frame |
| ENST00000237530 | 37232296 | 37232391 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000237530 | 37184180 | 37184373 | Frame-shift |
| ENST00000237530 | 37199050 | 37199225 | Frame-shift |
| ENST00000237530 | 37213760 | 37213865 | Frame-shift |
| ENST00000237530 | 37234020 | 37234095 | Frame-shift |
| ENST00000237530 | 37236580 | 37236709 | Frame-shift |
| ENST00000237530 | 37198397 | 37198492 | In-frame |
| ENST00000237530 | 37207273 | 37207449 | In-frame |
| ENST00000237530 | 37232296 | 37232391 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RPN2 |
p-ENSG00000118705_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000237530 | 2532 | 631 | 37198397 | 37198492 | 520 | 614 | 69 | 101 |
| ENST00000237530 | 2532 | 631 | 37207273 | 37207449 | 1003 | 1178 | 230 | 289 |
| ENST00000237530 | 2532 | 631 | 37232296 | 37232391 | 1894 | 1988 | 527 | 559 |
| Loci of skipped exons in MSBB 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 |
| ENST00000237530 | 2532 | 631 | 37207273 | 37207449 | 1003 | 1178 | 230 | 289 |
| ENST00000237530 | 2532 | 631 | 37232296 | 37232391 | 1894 | 1988 | 527 | 559 |
| Loci of skipped exons in Mayo 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 |
| ENST00000237530 | 2532 | 631 | 37198397 | 37198492 | 520 | 614 | 69 | 101 |
| ENST00000237530 | 2532 | 631 | 37207273 | 37207449 | 1003 | 1178 | 230 | 289 |
| ENST00000237530 | 2532 | 631 | 37232296 | 37232391 | 1894 | 1988 | 527 | 559 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| P04844 | 69 | 101 | 70 | 101 | Alternative sequence | ID=VSP_043051;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P04844 | 69 | 101 | 23 | 631 | Chain | ID=PRO_0000022244;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 |
| P04844 | 69 | 101 | 23 | 540 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P04844 | 230 | 289 | 23 | 631 | Chain | ID=PRO_0000022244;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 |
| P04844 | 230 | 289 | 260 | 260 | Sequence conflict | Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P04844 | 230 | 289 | 286 | 286 | Sequence conflict | Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P04844 | 230 | 289 | 23 | 540 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P04844 | 527 | 559 | 23 | 631 | Chain | ID=PRO_0000022244;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 |
| P04844 | 527 | 559 | 23 | 540 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P04844 | 527 | 559 | 541 | 561 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| P04844 | 230 | 289 | 23 | 631 | Chain | ID=PRO_0000022244;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 |
| P04844 | 230 | 289 | 260 | 260 | Sequence conflict | Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P04844 | 230 | 289 | 286 | 286 | Sequence conflict | Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P04844 | 230 | 289 | 23 | 540 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P04844 | 527 | 559 | 23 | 631 | Chain | ID=PRO_0000022244;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 |
| P04844 | 527 | 559 | 23 | 540 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P04844 | 527 | 559 | 541 | 561 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| P04844 | 69 | 101 | 70 | 101 | Alternative sequence | ID=VSP_043051;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P04844 | 69 | 101 | 23 | 631 | Chain | ID=PRO_0000022244;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 |
| P04844 | 69 | 101 | 23 | 540 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P04844 | 230 | 289 | 23 | 631 | Chain | ID=PRO_0000022244;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 |
| P04844 | 230 | 289 | 260 | 260 | Sequence conflict | Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P04844 | 230 | 289 | 286 | 286 | Sequence conflict | Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P04844 | 230 | 289 | 23 | 540 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P04844 | 527 | 559 | 23 | 631 | Chain | ID=PRO_0000022244;Note=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 |
| P04844 | 527 | 559 | 23 | 540 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P04844 | 527 | 559 | 541 | 561 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in RPN2 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for RPN2 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for RPN2 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RPN2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for RPN2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | HNRNPDL | exon_skip_147361 | 4.763019e-01 | 2.211385e-10 |
| CB | RBM45 | exon_skip_147361 | 7.509441e-01 | 4.283328e-30 |
| CB | PABPC1 | exon_skip_147361 | 4.236213e-01 | 2.640284e-08 |
| DLPFC | DAZAP1 | exon_skip_29784 | 5.641489e-01 | 6.637806e-22 |
| DLPFC | SRSF2 | exon_skip_29784 | 6.334961e-01 | 8.831268e-29 |
| DLPFC | MBNL1 | exon_skip_29784 | 4.382824e-01 | 7.103376e-13 |
| DLPFC | KHDRBS3 | exon_skip_29784 | 6.420027e-01 | 9.533144e-30 |
| DLPFC | HNRNPA0 | exon_skip_29784 | 6.699447e-01 | 3.778637e-33 |
| DLPFC | HNRNPDL | exon_skip_29784 | 6.741037e-01 | 1.094000e-33 |
| DLPFC | RBM45 | exon_skip_29784 | 4.645271e-01 | 1.832097e-14 |
| DLPFC | HNRNPAB | exon_skip_29784 | 5.243837e-01 | 1.224141e-18 |
| DLPFC | HNRNPD | exon_skip_29784 | 6.629775e-01 | 2.882843e-32 |
| DLPFC | PABPC1 | exon_skip_29784 | 4.330354e-01 | 1.422393e-12 |
| DLPFC | SRSF4 | exon_skip_29784 | 4.521807e-01 | 1.064683e-13 |
| DLPFC | SRSF9 | exon_skip_29784 | 5.335025e-01 | 2.380540e-19 |
| FL | SRSF2 | exon_skip_224737 | 6.005898e-01 | 1.342408e-20 |
| FL | MSI1 | exon_skip_224737 | -5.314653e-01 | 1.106340e-15 |
| FL | KHDRBS3 | exon_skip_224737 | 5.917913e-01 | 6.604235e-20 |
| FL | HNRNPA0 | exon_skip_224737 | 6.114516e-01 | 1.752805e-21 |
| FL | HNRNPDL | exon_skip_224737 | 4.925310e-01 | 2.257711e-13 |
| FL | RBM45 | exon_skip_224737 | 4.316487e-01 | 2.673786e-10 |
| FL | SRSF9 | exon_skip_224737 | 5.186569e-01 | 6.862274e-15 |
| HCC | DAZAP1 | exon_skip_224737 | -4.916472e-01 | 5.077958e-18 |
| HCC | MSI1 | exon_skip_224737 | -6.131431e-01 | 1.404895e-29 |
| HCC | ZNF326 | exon_skip_224737 | -5.248013e-01 | 1.006846e-20 |
| HCC | SRSF11 | exon_skip_224737 | -4.265712e-01 | 1.694026e-13 |
| HCC | KHDRBS3 | exon_skip_224737 | -4.226906e-01 | 2.946732e-13 |
| HCC | RBM45 | exon_skip_224737 | -4.274969e-01 | 1.482898e-13 |
| HCC | SRSF4 | exon_skip_224737 | -4.373758e-01 | 3.492140e-14 |
| IFG | PABPN1L | exon_skip_224737 | -5.688547e-01 | 1.584341e-03 |
| PG | SRSF2 | exon_skip_224737 | 4.328796e-01 | 3.995195e-10 |
| PG | MSI1 | exon_skip_224737 | -4.165537e-01 | 2.050399e-09 |
| PG | KHDRBS3 | exon_skip_224737 | 5.820172e-01 | 1.044230e-18 |
| PG | HNRNPA0 | exon_skip_224737 | 5.359467e-01 | 1.354408e-15 |
| PG | HNRNPDL | exon_skip_224737 | 4.101653e-01 | 3.798453e-09 |
| STG | SRSF2 | exon_skip_224737 | 4.946543e-01 | 8.342488e-07 |
| STG | MSI1 | exon_skip_224737 | -4.006422e-01 | 1.000343e-04 |
| STG | PABPN1L | exon_skip_224737 | -4.179428e-01 | 4.595598e-05 |
| STG | SRSF11 | exon_skip_224737 | 4.143313e-01 | 5.424927e-05 |
| STG | KHDRBS3 | exon_skip_224737 | 6.300121e-01 | 3.723171e-11 |
| STG | HNRNPA0 | exon_skip_224737 | 5.595255e-01 | 1.198697e-08 |
| STG | HNRNPDL | exon_skip_224737 | 4.181318e-01 | 4.555630e-05 |
| STG | SRSF9 | exon_skip_224737 | 5.337907e-01 | 7.180556e-08 |
| TC | SRSF2 | exon_skip_17641 | 5.218407e-01 | 1.481883e-12 |
| TC | MSI1 | exon_skip_17641 | -4.215827e-01 | 2.827035e-08 |
| TC | KHDRBS3 | exon_skip_17641 | 6.203066e-01 | 2.180074e-18 |
| TC | HNRNPA0 | exon_skip_17641 | 6.054173e-01 | 2.247251e-17 |
| TC | HNRNPDL | exon_skip_17641 | 4.528621e-01 | 1.825476e-09 |
| TC | RBM45 | exon_skip_17641 | 5.128842e-01 | 4.094495e-12 |
| TC | HNRNPD | exon_skip_17641 | 5.426981e-01 | 1.234019e-13 |
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RelatedDrugs for RPN2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for RPN2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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