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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 ERN2 |
 Gene summary |
| Gene information | Gene symbol | ERN2 | Gene ID | 10595 |
| Gene name | endoplasmic reticulum to nucleus signaling 2 | |
| Synonyms | IRE1-BETA|IRE1b|IRE2p|hIRE2p | |
| Cytomap | 16p12.2 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein kinase/endoribonuclease IRE2ER to nucleus signalling 2IRE1 betaIRE1, S. cerevisiae, homolog ofendoplasmic reticulum to nucleus signalling 2inositol-requiring 1 betainositol-requiring protein 2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q76MJ5 | |
| Context | PubMed: ERN2 [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 |
| ERN2 | GO:0006468 | protein phosphorylation | 11175748 |
| ERN2 | GO:0016075 | rRNA catabolic process | 11175748 |
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Exon skipping events across known transcript of Ensembl for ERN2 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 ERN2 |
| 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 ERN2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_143182 | 16 | 23703283:23703411:23703504:23703652:23706048:23706081 | 23703504:23703652 | ENSG00000134398.8 | ENST00000457008.2,ENST00000256797.4 |
| exon_skip_143187 | 16 | 23706174:23706248:23706339:23706439:23706520:23706710 | 23706339:23706439 | ENSG00000134398.8 | ENST00000457008.2,ENST00000256797.4 |
| exon_skip_143195 | 16 | 23706520:23706710:23707214:23707299:23711859:23711953 | 23707214:23707299 | ENSG00000134398.8 | ENST00000562562.1,ENST00000457008.2,ENST00000256797.4 |
| exon_skip_143226 | 16 | 23707214:23707299:23711859:23712025:23713472:23713594 | 23711859:23712025 | ENSG00000134398.8 | ENST00000457008.2 |
| exon_skip_143231 | 16 | 23707214:23707299:23711859:23712435:23713472:23713594 | 23711859:23712435 | ENSG00000134398.8 | ENST00000562562.1 |
| exon_skip_143249 | 16 | 23711859:23712025:23712279:23712435:23713472:23713594 | 23712279:23712435 | ENSG00000134398.8 | ENST00000256797.4 |
| exon_skip_143256 | 16 | 23716203:23716468:23717650:23717752:23718074:23718175 | 23717650:23717752 | ENSG00000134398.8 | ENST00000562562.1,ENST00000457008.2,ENST00000256797.4 |
| exon_skip_143258 | 16 | 23718327:23718400:23720491:23720591:23721492:23721565 | 23720491:23720591 | ENSG00000134398.8 | ENST00000562562.1 |
| exon_skip_143264 | 16 | 23722233:23722339:23723316:23723399:23724415:23724531 | 23723316:23723399 | ENSG00000134398.8 | ENST00000569903.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ERN2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_143182 | 16 | 23703283:23703411:23703504:23703652:23706048:23706081 | 23703504:23703652 | ENSG00000134398.8 | ENST00000457008.2,ENST00000256797.4 |
| exon_skip_143187 | 16 | 23706174:23706248:23706339:23706439:23706520:23706710 | 23706339:23706439 | ENSG00000134398.8 | ENST00000457008.2,ENST00000256797.4 |
| exon_skip_143195 | 16 | 23706520:23706710:23707214:23707299:23711859:23711953 | 23707214:23707299 | ENSG00000134398.8 | ENST00000457008.2,ENST00000256797.4,ENST00000562562.1 |
| exon_skip_143249 | 16 | 23711859:23712025:23712279:23712435:23713472:23713594 | 23712279:23712435 | ENSG00000134398.8 | ENST00000256797.4 |
| exon_skip_143256 | 16 | 23716203:23716468:23717650:23717752:23718074:23718175 | 23717650:23717752 | ENSG00000134398.8 | ENST00000457008.2,ENST00000256797.4,ENST00000562562.1 |
| exon_skip_143258 | 16 | 23718327:23718400:23720491:23720591:23721492:23721565 | 23720491:23720591 | ENSG00000134398.8 | ENST00000562562.1 |
| exon_skip_143264 | 16 | 23722233:23722339:23723316:23723399:23724415:23724531 | 23723316:23723399 | ENSG00000134398.8 | ENST00000569903.1 |
| 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 ERN2 |
| 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 |
| ENST00000256797 | 23703504 | 23703652 | Frame-shift |
| ENST00000256797 | 23706339 | 23706439 | Frame-shift |
| ENST00000256797 | 23707214 | 23707299 | Frame-shift |
| ENST00000256797 | 23712279 | 23712435 | In-frame |
| ENST00000256797 | 23717650 | 23717752 | 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 |
| ENST00000256797 | 23703504 | 23703652 | Frame-shift |
| ENST00000256797 | 23706339 | 23706439 | Frame-shift |
| ENST00000256797 | 23707214 | 23707299 | Frame-shift |
| ENST00000256797 | 23712279 | 23712435 | In-frame |
| ENST00000256797 | 23717650 | 23717752 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ERN2 |
| 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 |
| ENST00000256797 | 3566 | 926 | 23717650 | 23717752 | 801 | 902 | 210 | 244 |
| ENST00000256797 | 3566 | 926 | 23712279 | 23712435 | 1517 | 1672 | 449 | 501 |
| 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 |
| ENST00000256797 | 3566 | 926 | 23717650 | 23717752 | 801 | 902 | 210 | 244 |
| ENST00000256797 | 3566 | 926 | 23712279 | 23712435 | 1517 | 1672 | 449 | 501 |
| 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 |
| Q76MJ5 | 210 | 244 | 35 | 926 | Chain | ID=PRO_0000024329;Note=Serine/threonine-protein kinase/endoribonuclease IRE2 |
| Q76MJ5 | 210 | 244 | 215 | 215 | Sequence conflict | Note=G->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q76MJ5 | 210 | 244 | 218 | 218 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q76MJ5 | 210 | 244 | 227 | 227 | Sequence conflict | Note=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q76MJ5 | 210 | 244 | 35 | 430 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q76MJ5 | 449 | 501 | 35 | 926 | Chain | ID=PRO_0000024329;Note=Serine/threonine-protein kinase/endoribonuclease IRE2 |
| Q76MJ5 | 449 | 501 | 487 | 487 | Natural variant | ID=VAR_040501;Note=S->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11175748,ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs26764,PMID:11175748,PMID:17344846 |
| Q76MJ5 | 449 | 501 | 453 | 453 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q76MJ5 | 449 | 501 | 468 | 468 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q76MJ5 | 449 | 501 | 472 | 474 | Sequence conflict | Note=FAH->TAD;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q76MJ5 | 449 | 501 | 486 | 486 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q76MJ5 | 449 | 501 | 488 | 491 | Sequence conflict | Note=RRSQ->LRSK;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q76MJ5 | 449 | 501 | 452 | 926 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q76MJ5 | 449 | 501 | 431 | 451 | Transmembrane | Note=Helical;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 |
| Q76MJ5 | 210 | 244 | 35 | 926 | Chain | ID=PRO_0000024329;Note=Serine/threonine-protein kinase/endoribonuclease IRE2 |
| Q76MJ5 | 210 | 244 | 215 | 215 | Sequence conflict | Note=G->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q76MJ5 | 210 | 244 | 218 | 218 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q76MJ5 | 210 | 244 | 227 | 227 | Sequence conflict | Note=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q76MJ5 | 210 | 244 | 35 | 430 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q76MJ5 | 449 | 501 | 35 | 926 | Chain | ID=PRO_0000024329;Note=Serine/threonine-protein kinase/endoribonuclease IRE2 |
| Q76MJ5 | 449 | 501 | 487 | 487 | Natural variant | ID=VAR_040501;Note=S->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11175748,ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs26764,PMID:11175748,PMID:17344846 |
| Q76MJ5 | 449 | 501 | 453 | 453 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q76MJ5 | 449 | 501 | 468 | 468 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q76MJ5 | 449 | 501 | 472 | 474 | Sequence conflict | Note=FAH->TAD;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q76MJ5 | 449 | 501 | 486 | 486 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q76MJ5 | 449 | 501 | 488 | 491 | Sequence conflict | Note=RRSQ->LRSK;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q76MJ5 | 449 | 501 | 452 | 926 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q76MJ5 | 449 | 501 | 431 | 451 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for ERN2 |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_143195 | 23707215 | 23707299 | 23707229 | 23707229 | Frame_Shift_Del | C | - | p.G580fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_143195 | 23707215 | 23707299 | 23707259 | 23707259 | Frame_Shift_Del | G | - | p.P570fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_143226 | 23711860 | 23712025 | 23711929 | 23711929 | Frame_Shift_Del | C | - | p.A534fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_143231 | 23711860 | 23712435 | 23711929 | 23711929 | Frame_Shift_Del | C | - | p.A534fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_143226 | 23711860 | 23712025 | 23711929 | 23711929 | Frame_Shift_Del | C | - | p.A534fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_143231 | 23711860 | 23712435 | 23711929 | 23711929 | Frame_Shift_Del | C | - | p.A534fs |
| LUAD | TCGA-55-8506-01 | exon_skip_143226 | 23711860 | 23712025 | 23711986 | 23711986 | Frame_Shift_Del | G | - | p.L515fs |
| LUAD | TCGA-55-8506-01 | exon_skip_143231 | 23711860 | 23712435 | 23711986 | 23711986 | Frame_Shift_Del | G | - | p.L515fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_143226 | 23711860 | 23712025 | 23711986 | 23711986 | Frame_Shift_Del | G | - | p.L515fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_143231 | 23711860 | 23712435 | 23711986 | 23711986 | Frame_Shift_Del | G | - | p.L515fs |
| UCEC | TCGA-D1-A17H-01 | exon_skip_143231 | 23711860 | 23712435 | 23712362 | 23712365 | Frame_Shift_Del | AAGT | - | p.Y473fs |
| UCEC | TCGA-D1-A17H-01 | exon_skip_143249 | 23712280 | 23712435 | 23712362 | 23712365 | Frame_Shift_Del | AAGT | - | p.Y473fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_143231 | 23711860 | 23712435 | 23712378 | 23712378 | Frame_Shift_Del | T | - | p.T469fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_143249 | 23712280 | 23712435 | 23712378 | 23712378 | Frame_Shift_Del | T | - | p.T469fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_143231 | 23711860 | 23712435 | 23712378 | 23712378 | Frame_Shift_Del | T | - | p.T469fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_143249 | 23712280 | 23712435 | 23712378 | 23712378 | Frame_Shift_Del | T | - | p.T469fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_143256 | 23717651 | 23717752 | 23717673 | 23717673 | Frame_Shift_Del | G | - | p.M238fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_143256 | 23717651 | 23717752 | 23717673 | 23717673 | Frame_Shift_Del | G | - | p.P237fs |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_143256 | 23717651 | 23717752 | 23717685 | 23717685 | Nonsense_Mutation | G | T | p.Y233* |
| - 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 |
| NCIH2722_PLEURA | 23711860 | 23712025 | 23711927 | 23711927 | Frame_Shift_Del | G | - | p.A434fs |
| NCIH2722_PLEURA | 23711860 | 23712435 | 23711927 | 23711927 | Frame_Shift_Del | G | - | p.A434fs |
| SW1783_CENTRAL_NERVOUS_SYSTEM | 23707215 | 23707299 | 23707222 | 23707222 | Missense_Mutation | C | T | p.V483I |
| HEC59_ENDOMETRIUM | 23707215 | 23707299 | 23707258 | 23707258 | Missense_Mutation | T | C | p.K471E |
| HCE4_OESOPHAGUS | 23707215 | 23707299 | 23707274 | 23707274 | Missense_Mutation | C | A | p.K465N |
| WM278_SKIN | 23707215 | 23707299 | 23707291 | 23707291 | Missense_Mutation | G | C | p.L460V |
| SNU216_STOMACH | 23711860 | 23712025 | 23711871 | 23711871 | Missense_Mutation | T | G | p.D453A |
| SNU216_STOMACH | 23711860 | 23712435 | 23711871 | 23711871 | Missense_Mutation | T | G | p.D453A |
| COLO320_LARGE_INTESTINE | 23711860 | 23712025 | 23711916 | 23711916 | Missense_Mutation | C | A | p.S438I |
| COLO320_LARGE_INTESTINE | 23711860 | 23712435 | 23711916 | 23711916 | Missense_Mutation | C | A | p.S438I |
| NCIH1975_LUNG | 23711860 | 23712025 | 23711986 | 23711986 | Missense_Mutation | G | C | p.L415V |
| NCIH1975_LUNG | 23711860 | 23712435 | 23711986 | 23711986 | Missense_Mutation | G | C | p.L415V |
| JHOM1_OVARY | 23712280 | 23712435 | 23712405 | 23712405 | Missense_Mutation | C | T | p.D460N |
| JHOM1_OVARY | 23711860 | 23712435 | 23712405 | 23712405 | Missense_Mutation | C | T | p.D460N |
| NCIH1048_LUNG | 23717651 | 23717752 | 23717680 | 23717680 | Missense_Mutation | G | A | p.A187V |
| HCC2998_LARGE_INTESTINE | 23707215 | 23707299 | 23707299 | 23707299 | Splice_Site | G | T | p.A457D |
| HEC59_ENDOMETRIUM | 23711860 | 23712025 | 23712025 | 23712025 | Splice_Site | G | A | p.Q402* |
| HEC59_ENDOMETRIUM | 23711860 | 23712435 | 23712025 | 23712025 | Splice_Site | G | A | p.Q402* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ERN2 |
| 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 ERN2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ERN2 |
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RelatedDrugs for ERN2 |
| 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 ERN2 |
| 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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