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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 EMC2 |
 Gene summary |
| Gene information | Gene symbol | EMC2 | Gene ID | 9694 |
| Gene name | ER membrane protein complex subunit 2 | |
| Synonyms | KIAA0103|TTC35 | |
| Cytomap | 8q23.1 | |
| Type of gene | protein-coding | |
| Description | ER membrane protein complex subunit 2TPR repeat protein 35tetratricopeptide repeat domain 35tetratricopeptide repeat protein 35 | |
| Modification date | 20180523 | |
| UniProtAcc | Q15006 | |
| Context | PubMed: EMC2 [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 EMC2 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 EMC2 |
| 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 EMC2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_485635 | 8 | 109462051:109462165:109462656:109462721:109465290:109465376 | 109462656:109462721 | ENSG00000104412.3 | ENST00000517784.1,ENST00000220853.3,ENST00000517593.1,ENST00000524143.1 |
| exon_skip_485638 | 8 | 109465290:109465376:109468101:109468159:109482054:109482140 | 109468101:109468159 | ENSG00000104412.3 | ENST00000519642.1,ENST00000517784.1,ENST00000220853.3 |
| exon_skip_485643 | 8 | 109482290:109482350:109488110:109488192:109489010:109489121 | 109488110:109488192 | ENSG00000104412.3 | ENST00000220853.3,ENST00000520294.1 |
| exon_skip_485647 | 8 | 109489010:109489121:109491234:109491339:109498740:109498792 | 109491234:109491339 | ENSG00000104412.3 | ENST00000519450.1,ENST00000220853.3,ENST00000520294.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EMC2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_485635 | 8 | 109462051:109462165:109462656:109462721:109465290:109465376 | 109462656:109462721 | ENSG00000104412.3 | ENST00000524143.1,ENST00000220853.3,ENST00000517593.1,ENST00000517784.1 |
| exon_skip_485638 | 8 | 109465290:109465376:109468101:109468159:109482054:109482140 | 109468101:109468159 | ENSG00000104412.3 | ENST00000220853.3,ENST00000517784.1,ENST00000519642.1 |
| exon_skip_485643 | 8 | 109482290:109482350:109488110:109488192:109489010:109489121 | 109488110:109488192 | ENSG00000104412.3 | ENST00000220853.3,ENST00000520294.1 |
| exon_skip_485647 | 8 | 109489010:109489121:109491234:109491339:109498740:109498792 | 109491234:109491339 | ENSG00000104412.3 | ENST00000220853.3,ENST00000520294.1,ENST00000519450.1 |
| 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 EMC2 |
| 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 |
| ENST00000220853 | 109462656 | 109462721 | Frame-shift |
| ENST00000220853 | 109468101 | 109468159 | Frame-shift |
| ENST00000220853 | 109488110 | 109488192 | Frame-shift |
| ENST00000220853 | 109491234 | 109491339 | 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 |
| ENST00000220853 | 109462656 | 109462721 | Frame-shift |
| ENST00000220853 | 109468101 | 109468159 | Frame-shift |
| ENST00000220853 | 109488110 | 109488192 | Frame-shift |
| ENST00000220853 | 109491234 | 109491339 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EMC2 |
| 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 |
| ENST00000220853 | 1260 | 297 | 109491234 | 109491339 | 738 | 842 | 234 | 269 |
| 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 |
| ENST00000220853 | 1260 | 297 | 109491234 | 109491339 | 738 | 842 | 234 | 269 |
| 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 |
| Q15006 | 234 | 269 | 2 | 297 | Chain | ID=PRO_0000106353;Note=ER membrane protein complex subunit 2 |
| Q15006 | 234 | 269 | 255 | 255 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| 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 |
| Q15006 | 234 | 269 | 2 | 297 | Chain | ID=PRO_0000106353;Note=ER membrane protein complex subunit 2 |
| Q15006 | 234 | 269 | 255 | 255 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
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SNVs in the skipped exons for EMC2 |
| - 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. |
EMC2_HNSC_exon_skip_485647_psi_boxplot.png |
EMC2_LIHC_exon_skip_485647_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_485647 | 109491235 | 109491339 | 109491320 | 109491320 | Frame_Shift_Del | A | - | p.Q263fs |
| HNSC | TCGA-CV-7568-01 | exon_skip_485647 | 109491235 | 109491339 | 109491300 | 109491300 | Nonsense_Mutation | T | G | p.Y256* |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_485638 | 109468102 | 109468159 | 109468100 | 109468100 | Splice_Site | A | G | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CV-7568-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_485647 | |
| Skipped exon start: 109491235 | |
| Skipped exon end: 109491339 | |
| Mutation start: 109491300 | |
| Mutation end: 109491300 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: T | |
| Mutation seq: G | |
| AAchange: p.Y256* | |
exon_skip_485647_HNSC_TCGA-CV-7568-01.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 |
| EN_ENDOMETRIUM | 109491235 | 109491339 | 109491263 | 109491263 | Missense_Mutation | A | G | p.K244R |
| NCIH650_LUNG | 109491235 | 109491339 | 109491328 | 109491328 | Missense_Mutation | A | G | p.R266G |
| RERFLCAD2_LUNG | 109491235 | 109491339 | 109491328 | 109491328 | Nonsense_Mutation | A | T | p.R266* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EMC2 |
| 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 EMC2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EMC2 |
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RelatedDrugs for EMC2 |
| 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 EMC2 |
| 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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