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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 ERLIN2 |
 Gene summary |
| Gene information | Gene symbol | ERLIN2 | Gene ID | 11160 |
| Gene name | ER lipid raft associated 2 | |
| Synonyms | C8orf2|Erlin-2|NET32|SPFH2|SPG18 | |
| Cytomap | 8p11.23 | |
| Type of gene | protein-coding | |
| Description | erlin-2SPFH domain family, member 2endoplasmic reticulum lipid raft-associated protein 2spastic paraplegia 18 (autosomal dominant)stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2 | |
| Modification date | 20180523 | |
| UniProtAcc | O94905 | |
| Context | PubMed: ERLIN2 [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 |
| ERLIN2 | GO:0030433 | ubiquitin-dependent ERAD pathway | 19240031 |
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Exon skipping events across known transcript of Ensembl for ERLIN2 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 ERLIN2 |
| 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 ERLIN2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_482702 | 8 | 37594144:37594196:37595425:37595547:37597882:37597964 | 37595425:37595547 | ENSG00000147475.10 | ENST00000519872.1,ENST00000523887.1,ENST00000276461.5 |
| exon_skip_482711 | 8 | 37597884:37597964:37599289:37599336:37601872:37601934 | 37599289:37599336 | ENSG00000147475.10 | ENST00000397228.2,ENST00000519638.1,ENST00000335171.6,ENST00000518586.1,ENST00000523887.1,ENST00000521644.1,ENST00000521993.2,ENST00000523107.1,ENST00000276461.5 |
| exon_skip_482714 | 8 | 37609143:37609233:37610967:37611047:37611432:37611629 | 37610967:37611047 | ENSG00000147475.10 | ENST00000519638.1,ENST00000521644.1,ENST00000276461.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ERLIN2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_482702 | 8 | 37594144:37594196:37595425:37595547:37597882:37597964 | 37595425:37595547 | ENSG00000147475.10 | ENST00000519872.1,ENST00000523887.1,ENST00000276461.5 |
| exon_skip_482711 | 8 | 37597884:37597964:37599289:37599336:37601872:37601934 | 37599289:37599336 | ENSG00000147475.10 | ENST00000397228.2,ENST00000523887.1,ENST00000276461.5,ENST00000518586.1,ENST00000335171.6,ENST00000521644.1,ENST00000523107.1,ENST00000519638.1,ENST00000521993.2 |
| exon_skip_482714 | 8 | 37609143:37609233:37610967:37611047:37611432:37611629 | 37610967:37611047 | ENSG00000147475.10 | ENST00000276461.5,ENST00000521644.1,ENST00000519638.1 |
| 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 ERLIN2 |
| 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 |
| ENST00000276461 | 37595425 | 37595547 | 5CDS-5UTR |
| ENST00000276461 | 37599289 | 37599336 | Frame-shift |
| ENST00000519638 | 37599289 | 37599336 | Frame-shift |
| ENST00000276461 | 37610967 | 37611047 | Frame-shift |
| ENST00000519638 | 37610967 | 37611047 | Frame-shift |
| 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 |
| ENST00000276461 | 37595425 | 37595547 | 5CDS-5UTR |
| ENST00000276461 | 37599289 | 37599336 | Frame-shift |
| ENST00000519638 | 37599289 | 37599336 | Frame-shift |
| ENST00000276461 | 37610967 | 37611047 | Frame-shift |
| ENST00000519638 | 37610967 | 37611047 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for ERLIN2 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for ERLIN2 |
| - 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 |
| BLCA | TCGA-ZF-AA4V-01 | exon_skip_482702 | 37595426 | 37595547 | 37595525 | 37595528 | Frame_Shift_Del | GGAC | - | p.GH29fs |
| LIHC | TCGA-BC-A10T-01 | exon_skip_482702 | 37595426 | 37595547 | 37595467 | 37595468 | Frame_Shift_Ins | - | G | p.G10fs |
| HNSC | TCGA-CV-5430-01 | exon_skip_482702 | 37595426 | 37595547 | 37595472 | 37595473 | Frame_Shift_Ins | - | T | p.A11fs |
| HNSC | TCGA-CV-5430-01 | exon_skip_482702 | 37595426 | 37595547 | 37595472 | 37595473 | Frame_Shift_Ins | - | T | p.V11fs |
| SKCM | TCGA-EE-A2GR-06 | exon_skip_482714 | 37610968 | 37611047 | 37611017 | 37611017 | Nonsense_Mutation | C | A | p.Y263* |
| - 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 |
| MDAMB436_BREAST | 37610968 | 37611047 | 37611003 | 37611003 | Missense_Mutation | G | A | p.D259N |
| KM12_LARGE_INTESTINE | 37610968 | 37611047 | 37611007 | 37611007 | Missense_Mutation | C | T | p.A260V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ERLIN2 |
| 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 ERLIN2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ERLIN2 |
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RelatedDrugs for ERLIN2 |
| 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 ERLIN2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ERLIN2 | C3714756 | Intellectual Disability | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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