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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 EMC1 |
 Gene summary |
| Gene information | Gene symbol | EMC1 | Gene ID | 23065 |
| Gene name | ER membrane protein complex subunit 1 | |
| Synonyms | CAVIPMR|KIAA0090 | |
| Cytomap | 1p36.13 | |
| Type of gene | protein-coding | |
| Description | ER membrane protein complex subunit 1 | |
| 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 EMC1 |
| 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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ENSG00000127463
| 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 | ENST00000375199.7 | EMC1-201:protein_coding:EMC1 | 1.795666e+02 | 8.912453e-01 | 8.434716e-04 | 4.472044e-03 |
| CB | UP | ENST00000375208.7 | EMC1-202:protein_coding:EMC1 | 2.592312e+01 | 1.596298e+00 | 2.108184e-03 | 9.627075e-03 |
| 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 EMC1 |
| 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_107323 | chr1 | 19243620:19243707:19243950:19244015:19244906:19245030 | 19243950:19244015 |
| exon_skip_120020 | chr1 | 19243950:19244015:19244739:19245030:19251415:19251509 | 19244739:19245030 |
| exon_skip_134547 | chr1 | 19238795:19238857:19239231:19239302:19239818:19239985 | 19239231:19239302 |
| exon_skip_182996 | chr1 | 19232936:19233135:19234180:19234188:19235130:19235249 | 19234180:19234188 |
| exon_skip_225738 | chr1 | 19243614:19243707:19243950:19244015:19244906:19245030 | 19243950:19244015 |
| exon_skip_235043 | chr1 | 19231261:19231422:19232624:19232773:19232936:19233135 | 19232624:19232773 |
| exon_skip_262889 | chr1 | 19243620:19243707:19244906:19245030:19251415:19251509 | 19244906:19245030 |
| exon_skip_282245 | chr1 | 19230844:19230963:19231261:19231422:19232624:19232773 | 19231261:19231422 |
| exon_skip_2961 | chr1 | 19232936:19233135:19235130:19235252:19237142:19237238 | 19235130:19235252 |
| exon_skip_34746 | chr1 | 19243950:19244015:19244906:19245030:19251415:19251509 | 19244906:19245030 |
| exon_skip_51369 | chr1 | 19223396:19223569:19227313:19227450:19230844:19230963 | 19227313:19227450 |
| 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_182996 | Mayo_TC | 2.798780e-01 | 4.117647e-01 | -1.318867e-01 | 1.679190e-04 |
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Open reading frame (ORF) annotation in the exon skipping event for EMC1 |
| 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 |
| ENST00000477853 | 19231261 | 19231422 | In-frame |
| ENST00000477853 | 19235130 | 19235252 | In-frame |
| ENST00000477853 | 19243950 | 19244015 | 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 |
| ENST00000477853 | 19231261 | 19231422 | In-frame |
| ENST00000477853 | 19243950 | 19244015 | 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 |
| ENST00000477853 | 19227313 | 19227450 | In-frame |
| ENST00000477853 | 19231261 | 19231422 | In-frame |
| ENST00000477853 | 19232624 | 19232773 | In-frame |
| ENST00000477853 | 19235130 | 19235252 | In-frame |
| ENST00000477853 | 19239231 | 19239302 | In-frame |
| ENST00000477853 | 19243950 | 19244015 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EMC1 |
p-ENSG00000127463_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 |
| ENST00000477853 | 6681 | 993 | 19243950 | 19244015 | 264 | 328 | 73 | 95 |
| ENST00000477853 | 6681 | 993 | 19235130 | 19235252 | 1353 | 1474 | 436 | 477 |
| ENST00000477853 | 6681 | 993 | 19231261 | 19231422 | 1826 | 1986 | 594 | 647 |
| 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 |
| ENST00000477853 | 6681 | 993 | 19243950 | 19244015 | 264 | 328 | 73 | 95 |
| ENST00000477853 | 6681 | 993 | 19231261 | 19231422 | 1826 | 1986 | 594 | 647 |
| 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 |
| ENST00000477853 | 6681 | 993 | 19243950 | 19244015 | 264 | 328 | 73 | 95 |
| ENST00000477853 | 6681 | 993 | 19239231 | 19239302 | 998 | 1068 | 318 | 341 |
| ENST00000477853 | 6681 | 993 | 19235130 | 19235252 | 1353 | 1474 | 436 | 477 |
| ENST00000477853 | 6681 | 993 | 19232624 | 19232773 | 1676 | 1824 | 544 | 593 |
| ENST00000477853 | 6681 | 993 | 19231261 | 19231422 | 1826 | 1986 | 594 | 647 |
| ENST00000477853 | 6681 | 993 | 19227313 | 19227450 | 2108 | 2244 | 688 | 733 |
| 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 |
| Q8N766 | 73 | 95 | 74 | 96 | Alternative sequence | ID=VSP_020327;Note=In isoform 4. LWRHVDKGTAEGAVDAMLLHGQD->Y;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16303743;Dbxref=PMID:16303743 |
| Q8N766 | 73 | 95 | 22 | 993 | Chain | ID=PRO_0000248597;Note=ER membrane protein complex subunit 1 |
| Q8N766 | 73 | 95 | 82 | 82 | Natural variant | ID=VAR_076915;Note=In CAVIPMR. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26942288;Dbxref=dbSNP:rs869320625,PMID:26942288 |
| Q8N766 | 73 | 95 | 22 | 958 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N766 | 436 | 477 | 437 | 437 | Alternative sequence | ID=VSP_020329;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q8N766 | 436 | 477 | 22 | 993 | Chain | ID=PRO_0000248597;Note=ER membrane protein complex subunit 1 |
| Q8N766 | 436 | 477 | 471 | 471 | Natural variant | ID=VAR_076917;Note=In CAVIPMR%3B unknown pathological significance. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26942288;Dbxref=dbSNP:rs879253819,PMID:26942288 |
| Q8N766 | 436 | 477 | 469 | 469 | Sequence conflict | Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N766 | 436 | 477 | 22 | 958 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N766 | 594 | 647 | 22 | 993 | Chain | ID=PRO_0000248597;Note=ER membrane protein complex subunit 1 |
| Q8N766 | 594 | 647 | 22 | 958 | Topological domain | Note=Extracellular;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 |
| Q8N766 | 73 | 95 | 74 | 96 | Alternative sequence | ID=VSP_020327;Note=In isoform 4. LWRHVDKGTAEGAVDAMLLHGQD->Y;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16303743;Dbxref=PMID:16303743 |
| Q8N766 | 73 | 95 | 22 | 993 | Chain | ID=PRO_0000248597;Note=ER membrane protein complex subunit 1 |
| Q8N766 | 73 | 95 | 82 | 82 | Natural variant | ID=VAR_076915;Note=In CAVIPMR. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26942288;Dbxref=dbSNP:rs869320625,PMID:26942288 |
| Q8N766 | 73 | 95 | 22 | 958 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N766 | 594 | 647 | 22 | 993 | Chain | ID=PRO_0000248597;Note=ER membrane protein complex subunit 1 |
| Q8N766 | 594 | 647 | 22 | 958 | Topological domain | Note=Extracellular;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 |
| Q8N766 | 73 | 95 | 74 | 96 | Alternative sequence | ID=VSP_020327;Note=In isoform 4. LWRHVDKGTAEGAVDAMLLHGQD->Y;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16303743;Dbxref=PMID:16303743 |
| Q8N766 | 73 | 95 | 22 | 993 | Chain | ID=PRO_0000248597;Note=ER membrane protein complex subunit 1 |
| Q8N766 | 73 | 95 | 82 | 82 | Natural variant | ID=VAR_076915;Note=In CAVIPMR. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26942288;Dbxref=dbSNP:rs869320625,PMID:26942288 |
| Q8N766 | 73 | 95 | 22 | 958 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N766 | 318 | 341 | 22 | 993 | Chain | ID=PRO_0000248597;Note=ER membrane protein complex subunit 1 |
| Q8N766 | 318 | 341 | 22 | 958 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N766 | 436 | 477 | 437 | 437 | Alternative sequence | ID=VSP_020329;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q8N766 | 436 | 477 | 22 | 993 | Chain | ID=PRO_0000248597;Note=ER membrane protein complex subunit 1 |
| Q8N766 | 436 | 477 | 471 | 471 | Natural variant | ID=VAR_076917;Note=In CAVIPMR%3B unknown pathological significance. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26942288;Dbxref=dbSNP:rs879253819,PMID:26942288 |
| Q8N766 | 436 | 477 | 469 | 469 | Sequence conflict | Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N766 | 436 | 477 | 22 | 958 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N766 | 544 | 593 | 22 | 993 | Chain | ID=PRO_0000248597;Note=ER membrane protein complex subunit 1 |
| Q8N766 | 544 | 593 | 570 | 570 | Sequence conflict | Note=F->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N766 | 544 | 593 | 22 | 958 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N766 | 594 | 647 | 22 | 993 | Chain | ID=PRO_0000248597;Note=ER membrane protein complex subunit 1 |
| Q8N766 | 594 | 647 | 22 | 958 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N766 | 688 | 733 | 22 | 993 | Chain | ID=PRO_0000248597;Note=ER membrane protein complex subunit 1 |
| Q8N766 | 688 | 733 | 724 | 724 | Sequence conflict | Note=R->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N766 | 688 | 733 | 22 | 958 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in EMC1 |
| 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 EMC1 |
| - 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 EMC1 |
| 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 EMC1 |
| 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 EMC1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| FL | SRSF2 | exon_skip_182996 | 4.608702e-01 | 1.082024e-10 |
| HCC | IGF2BP2 | exon_skip_182996 | -4.412368e-01 | 3.396648e-14 |
| HCC | SNRNP70 | exon_skip_182996 | -6.361839e-01 | 8.319962e-32 |
| IFG | IGF2BP2 | exon_skip_182996 | -5.336001e-01 | 3.452937e-03 |
| PG | SRSF2 | exon_skip_182996 | 5.141931e-01 | 4.836384e-12 |
| PG | IGF2BP2 | exon_skip_182996 | -4.320367e-01 | 1.443146e-08 |
| STG | IGF2BP2 | exon_skip_182996 | -4.088201e-01 | 1.511402e-04 |
| TC | SRSF2 | exon_skip_182996 | 4.965781e-01 | 1.027963e-10 |
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RelatedDrugs for EMC1 |
| 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 EMC1 |
| 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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