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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 EMC3 |
 Gene summary |
| Gene information | Gene symbol | EMC3 | Gene ID | 55831 |
| Gene name | ER membrane protein complex subunit 3 | |
| Synonyms | POB|TMEM111 | |
| Cytomap | 3p25.3 | |
| Type of gene | protein-coding | |
| Description | ER membrane protein complex subunit 330 kDa proteinpartial optokinetic response btransmembrane protein 111 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9P0I2 | |
| Context | PubMed: EMC3 [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 EMC3 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 EMC3 |
| 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 EMC3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_381132 | 3 | 10004220:10005881:10011402:10011485:10012265:10012345 | 10011402:10011485 | ENSG00000125037.8 | ENST00000245046.2 |
| exon_skip_381136 | 3 | 10015311:10015393:10016067:10016172:10018640:10018734 | 10016067:10016172 | ENSG00000125037.8 | ENST00000487465.1,ENST00000245046.2,ENST00000497557.1,ENST00000429759.1 |
| exon_skip_381137 | 3 | 10016067:10016172:10018640:10018734:10019072:10019130 | 10018640:10018734 | ENSG00000125037.8 | ENST00000487465.1,ENST00000245046.2,ENST00000497557.1,ENST00000429759.1 |
| exon_skip_381142 | 3 | 10019072:10019130:10023317:10023431:10028190:10028263 | 10023317:10023431 | ENSG00000125037.8 | ENST00000429759.1 |
| exon_skip_381145 | 3 | 10019072:10019130:10028190:10028586:10052706:10052800 | 10028190:10028586 | ENSG00000125037.8 | ENST00000470827.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EMC3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_381132 | 3 | 10004220:10005881:10011402:10011485:10012265:10012345 | 10011402:10011485 | ENSG00000125037.8 | ENST00000245046.2 |
| exon_skip_381136 | 3 | 10015311:10015393:10016067:10016172:10018640:10018734 | 10016067:10016172 | ENSG00000125037.8 | ENST00000245046.2,ENST00000487465.1,ENST00000497557.1,ENST00000429759.1 |
| exon_skip_381137 | 3 | 10016067:10016172:10018640:10018734:10019072:10019130 | 10018640:10018734 | ENSG00000125037.8 | ENST00000245046.2,ENST00000487465.1,ENST00000497557.1,ENST00000429759.1 |
| exon_skip_381142 | 3 | 10019072:10019130:10023317:10023431:10028190:10028263 | 10023317:10023431 | ENSG00000125037.8 | ENST00000429759.1 |
| exon_skip_381145 | 3 | 10019072:10019130:10028190:10028586:10052706:10052800 | 10028190:10028586 | ENSG00000125037.8 | ENST00000470827.2 |
| 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 EMC3 |
| 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 |
| ENST00000245046 | 10011402 | 10011485 | Frame-shift |
| ENST00000245046 | 10018640 | 10018734 | Frame-shift |
| ENST00000245046 | 10016067 | 10016172 | 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 |
| ENST00000245046 | 10011402 | 10011485 | Frame-shift |
| ENST00000245046 | 10018640 | 10018734 | Frame-shift |
| ENST00000245046 | 10016067 | 10016172 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EMC3 |
| 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 |
| ENST00000245046 | 2794 | 261 | 10016067 | 10016172 | 767 | 871 | 102 | 137 |
| 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 |
| ENST00000245046 | 2794 | 261 | 10016067 | 10016172 | 767 | 871 | 102 | 137 |
| 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 |
| Q9P0I2 | 102 | 137 | 2 | 261 | Chain | ID=PRO_0000211406;Note=ER membrane protein complex subunit 3 |
| Q9P0I2 | 102 | 137 | 118 | 138 | 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 |
| Q9P0I2 | 102 | 137 | 2 | 261 | Chain | ID=PRO_0000211406;Note=ER membrane protein complex subunit 3 |
| Q9P0I2 | 102 | 137 | 118 | 138 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for EMC3 |
| - 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-G3-A3CJ-01 | exon_skip_381145 | 10028191 | 10028586 | 10028300 | 10028300 | Frame_Shift_Del | C | - | p.V17fs |
| PRAD | TCGA-ZG-A9L2-01 | exon_skip_381132 | 10011403 | 10011485 | 10011467 | 10011468 | Frame_Shift_Ins | - | T | p.D198fs |
| ESCA | TCGA-IG-A50L-01 | exon_skip_381136 | 10016068 | 10016172 | 10016090 | 10016091 | Frame_Shift_Ins | - | A | p.M130fs |
| ESCA | TCGA-IG-A50L-01 | exon_skip_381136 | 10016068 | 10016172 | 10016090 | 10016091 | Frame_Shift_Ins | - | A | p.N130fs |
| BLCA | TCGA-GU-A42P-01 | exon_skip_381136 | 10016068 | 10016172 | 10016100 | 10016100 | Nonsense_Mutation | C | T | p.W127* |
| - 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 |
| 22RV1_PROSTATE | 10018641 | 10018734 | 10018676 | 10018677 | Frame_Shift_Ins | - | T | p.T91fs |
| M1203273_SKIN | 10011403 | 10011485 | 10011438 | 10011438 | Missense_Mutation | T | C | p.M208V |
| KYSE510_OESOPHAGUS | 10016068 | 10016172 | 10016147 | 10016147 | Missense_Mutation | C | T | p.M111I |
| LC41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10018641 | 10018734 | 10018661 | 10018661 | Missense_Mutation | A | G | p.V96A |
| SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10028191 | 10028586 | 10028225 | 10028225 | Missense_Mutation | C | G | p.D41H |
| NCIH1793_LUNG | 10028191 | 10028586 | 10028225 | 10028225 | Missense_Mutation | C | G | p.D41H |
| NCIH1373_LUNG | 10028191 | 10028586 | 10028325 | 10028325 | Missense_Mutation | C | A | p.L7F |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10016068 | 10016172 | 10016099 | 10016099 | Nonsense_Mutation | C | T | p.W127* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EMC3 |
| 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 EMC3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EMC3 |
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RelatedDrugs for EMC3 |
| 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 EMC3 |
| 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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