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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 ERGIC1 |
 Gene summary |
| Gene information | Gene symbol | ERGIC1 | Gene ID | 57222 |
| Gene name | endoplasmic reticulum-golgi intermediate compartment 1 | |
| Synonyms | AMCN|ERGIC-32|ERGIC32|NET24 | |
| Cytomap | 5q35.1 | |
| Type of gene | protein-coding | |
| Description | endoplasmic reticulum-Golgi intermediate compartment protein 1ER-Golgi intermediate compartment 32 kDa proteinendoplasmic reticulum-golgi intermediate compartment (ERGIC) 1endoplasmic reticulum-golgi intermediate compartment 32 kDa protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q969X5 | |
| Context | PubMed: ERGIC1 [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 |
| ERGIC1 | GO:0006888 | ER to Golgi vesicle-mediated transport | 15308636 |
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Exon skipping events across known transcript of Ensembl for ERGIC1 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 ERGIC1 |
| 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 ERGIC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_439675 | 5 | 172261413:172261436:172315701:172315763:172324004:172324077 | 172315701:172315763 | ENSG00000113719.11 | ENST00000519860.1,ENST00000523291.1,ENST00000520326.1,ENST00000520642.1 |
| exon_skip_439678 | 5 | 172315701:172315763:172324004:172324077:172336669:172336764 | 172324004:172324077 | ENSG00000113719.11 | ENST00000523291.1,ENST00000520326.1,ENST00000393784.3 |
| exon_skip_439680 | 5 | 172324004:172324077:172336669:172336764:172341716:172341750 | 172336669:172336764 | ENSG00000113719.11 | ENST00000523291.1,ENST00000520326.1,ENST00000393784.3 |
| exon_skip_439692 | 5 | 172336669:172336764:172341567:172341841:172351007:172351064 | 172341567:172341841 | ENSG00000113719.11 | ENST00000519796.1 |
| exon_skip_439694 | 5 | 172336669:172336764:172341716:172341841:172351007:172351064 | 172341716:172341841 | ENSG00000113719.11 | ENST00000518247.1,ENST00000519567.1,ENST00000393784.3 |
| exon_skip_439703 | 5 | 172341826:172341841:172342520:172342693:172351007:172351064 | 172342520:172342693 | ENSG00000113719.11 | ENST00000520642.1 |
| exon_skip_439715 | 5 | 172341716:172341841:172351007:172351112:172353511:172353566 | 172351007:172351112 | ENSG00000113719.11 | ENST00000519796.1,ENST00000519567.1,ENST00000393784.3 |
| exon_skip_439732 | 5 | 172347366:172347487:172348529:172348629:172351007:172351064 | 172348529:172348629 | ENSG00000113719.11 | ENST00000523650.1 |
| exon_skip_439734 | 5 | 172351105:172351112:172353511:172353572:172359438:172359481 | 172353511:172353572 | ENSG00000113719.11 | ENST00000519796.1,ENST00000521392.1,ENST00000523650.1,ENST00000393784.3 |
| exon_skip_439740 | 5 | 172353511:172353572:172359438:172359539:172362190:172362313 | 172359438:172359539 | ENSG00000113719.11 | ENST00000393784.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ERGIC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_439675 | 5 | 172261413:172261436:172315701:172315763:172324004:172324077 | 172315701:172315763 | ENSG00000113719.11 | ENST00000519860.1,ENST00000520326.1,ENST00000520642.1,ENST00000523291.1 |
| exon_skip_439678 | 5 | 172315701:172315763:172324004:172324077:172336669:172336764 | 172324004:172324077 | ENSG00000113719.11 | ENST00000393784.3,ENST00000520326.1,ENST00000523291.1 |
| exon_skip_439680 | 5 | 172324004:172324077:172336669:172336764:172341716:172341750 | 172336669:172336764 | ENSG00000113719.11 | ENST00000393784.3,ENST00000520326.1,ENST00000523291.1 |
| exon_skip_439692 | 5 | 172336669:172336764:172341567:172341841:172351007:172351064 | 172341567:172341841 | ENSG00000113719.11 | ENST00000519796.1 |
| exon_skip_439694 | 5 | 172336669:172336764:172341716:172341841:172351007:172351064 | 172341716:172341841 | ENSG00000113719.11 | ENST00000393784.3,ENST00000518247.1,ENST00000519567.1 |
| exon_skip_439703 | 5 | 172341826:172341841:172342520:172342693:172351007:172351064 | 172342520:172342693 | ENSG00000113719.11 | ENST00000520642.1 |
| exon_skip_439715 | 5 | 172341716:172341841:172351007:172351112:172353511:172353566 | 172351007:172351112 | ENSG00000113719.11 | ENST00000393784.3,ENST00000519567.1,ENST00000519796.1 |
| exon_skip_439732 | 5 | 172347366:172347487:172348529:172348629:172351007:172351064 | 172348529:172348629 | ENSG00000113719.11 | ENST00000523650.1 |
| exon_skip_439734 | 5 | 172351105:172351112:172353511:172353572:172359438:172359481 | 172353511:172353572 | ENSG00000113719.11 | ENST00000393784.3,ENST00000519796.1,ENST00000523650.1,ENST00000521392.1 |
| exon_skip_439740 | 5 | 172353511:172353572:172359438:172359539:172362190:172362313 | 172359438:172359539 | ENSG00000113719.11 | ENST00000393784.3 |
| 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 ERGIC1 |
| 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 |
| ENST00000393784 | 172324004 | 172324077 | Frame-shift |
| ENST00000393784 | 172336669 | 172336764 | Frame-shift |
| ENST00000393784 | 172341716 | 172341841 | Frame-shift |
| ENST00000393784 | 172353511 | 172353572 | Frame-shift |
| ENST00000393784 | 172359438 | 172359539 | Frame-shift |
| ENST00000393784 | 172351007 | 172351112 | 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 |
| ENST00000393784 | 172324004 | 172324077 | Frame-shift |
| ENST00000393784 | 172336669 | 172336764 | Frame-shift |
| ENST00000393784 | 172341716 | 172341841 | Frame-shift |
| ENST00000393784 | 172353511 | 172353572 | Frame-shift |
| ENST00000393784 | 172359438 | 172359539 | Frame-shift |
| ENST00000393784 | 172351007 | 172351112 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ERGIC1 |
| 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 |
| ENST00000393784 | 2898 | 290 | 172351007 | 172351112 | 515 | 619 | 125 | 160 |
| 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 |
| ENST00000393784 | 2898 | 290 | 172351007 | 172351112 | 515 | 619 | 125 | 160 |
| 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 |
| Q969X5 | 125 | 160 | 127 | 204 | Alternative sequence | ID=VSP_011563;Note=In isoform 3. PGNFHVSTHSATAQPQNPDMTHVIHKLSFGDTLQVQNIHGAFNALGGADRLTSNPLASHDYILKIVPTVYEDKSGKQR->WKPCLSPFYLLPFPAVSPLPGNWLWRHSLDLTLTQPPASEGSCPAAWPFLLRIWMGVQAPWGFKPLMAGSGRSYSSLQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubM |
| Q969X5 | 125 | 160 | 1 | 290 | Chain | ID=PRO_0000087023;Note=Endoplasmic reticulum-Golgi intermediate compartment protein 1 |
| Q969X5 | 125 | 160 | 48 | 254 | Topological domain | Note=Lumenal;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 |
| Q969X5 | 125 | 160 | 127 | 204 | Alternative sequence | ID=VSP_011563;Note=In isoform 3. PGNFHVSTHSATAQPQNPDMTHVIHKLSFGDTLQVQNIHGAFNALGGADRLTSNPLASHDYILKIVPTVYEDKSGKQR->WKPCLSPFYLLPFPAVSPLPGNWLWRHSLDLTLTQPPASEGSCPAAWPFLLRIWMGVQAPWGFKPLMAGSGRSYSSLQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubM |
| Q969X5 | 125 | 160 | 1 | 290 | Chain | ID=PRO_0000087023;Note=Endoplasmic reticulum-Golgi intermediate compartment protein 1 |
| Q969X5 | 125 | 160 | 48 | 254 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for ERGIC1 |
| - 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_439692 | 172341568 | 172341841 | 172341800 | 172341800 | Frame_Shift_Del | G | - | p.G67fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_439694 | 172341717 | 172341841 | 172341800 | 172341800 | Frame_Shift_Del | G | - | p.G67fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_439715 | 172351008 | 172351112 | 172351010 | 172351010 | Frame_Shift_Del | C | - | p.V126fs |
| BRCA | TCGA-BH-A0EE-01 | exon_skip_439740 | 172359439 | 172359539 | 172359501 | 172359502 | Frame_Shift_Ins | - | CT | p.K202fs |
| BLCA | TCGA-XF-A9T0-01 | exon_skip_439740 | 172359439 | 172359539 | 172359485 | 172359485 | Nonsense_Mutation | T | G | p.Y196* |
| - 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 |
| IGROV1_OVARY | 172353512 | 172353572 | 172353545 | 172353545 | Frame_Shift_Del | G | - | p.G173fs |
| HCC2108_LUNG | 172315702 | 172315763 | 172315755 | 172315755 | Missense_Mutation | G | A | p.G25E |
| SNU1040_LARGE_INTESTINE | 172336670 | 172336764 | 172336722 | 172336722 | Missense_Mutation | G | A | p.D70N |
| NCIH2066_LUNG | 172336670 | 172336764 | 172336729 | 172336729 | Missense_Mutation | G | T | p.S72I |
| NCIH1155_LUNG | 172336670 | 172336764 | 172336759 | 172336759 | Missense_Mutation | G | A | p.C82Y |
| RL952_ENDOMETRIUM | 172336670 | 172336764 | 172336761 | 172336761 | Missense_Mutation | G | A | p.E83K |
| HCT116_LARGE_INTESTINE | 172341568 | 172341841 | 172341722 | 172341722 | Missense_Mutation | G | A | p.G86R |
| HCT116_LARGE_INTESTINE | 172341717 | 172341841 | 172341722 | 172341722 | Missense_Mutation | G | A | p.G86R |
| SNU324_PANCREAS | 172341568 | 172341841 | 172341812 | 172341812 | Missense_Mutation | C | T | p.R116C |
| SNU324_PANCREAS | 172341717 | 172341841 | 172341812 | 172341812 | Missense_Mutation | C | T | p.R116C |
| HOS_BONE | 172341568 | 172341841 | 172341813 | 172341813 | Missense_Mutation | G | A | p.R116H |
| HOS_BONE | 172341717 | 172341841 | 172341813 | 172341813 | Missense_Mutation | G | A | p.R116H |
| RH36_SOFT_TISSUE | 172351008 | 172351112 | 172351054 | 172351054 | Missense_Mutation | C | T | p.P141L |
| LS411N_LARGE_INTESTINE | 172359439 | 172359539 | 172359471 | 172359471 | Missense_Mutation | G | A | p.V192M |
| WM115_SKIN | 172359439 | 172359539 | 172359528 | 172359528 | Missense_Mutation | G | C | p.V211L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ERGIC1 |
| 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 |
| exon_skip_439732 | 5 | 172347366:172347487:172348529:172348629:172351007:172351064 | 172348529:172348629 | ENST00000523650.1 | BLCA | rs1559063 | chr5:172348594 | C/G | 2.22e-05 |
| exon_skip_439732 | 5 | 172347366:172347487:172348529:172348629:172351007:172351064 | 172348529:172348629 | ENST00000523650.1 | HNSC | rs1559063 | chr5:172348594 | C/G | 4.12e-10 |
| exon_skip_439732 | 5 | 172347366:172347487:172348529:172348629:172351007:172351064 | 172348529:172348629 | ENST00000523650.1 | HNSC | rs1559063 | chr5:172348594 | C/G | 1.28e-06 |
| exon_skip_439732 | 5 | 172347366:172347487:172348529:172348629:172351007:172351064 | 172348529:172348629 | ENST00000523650.1 | BRCA | rs1559063 | chr5:172348594 | C/G | 1.74e-07 |
| exon_skip_439732 | 5 | 172347366:172347487:172348529:172348629:172351007:172351064 | 172348529:172348629 | ENST00000523650.1 | KIRC | rs1559063 | chr5:172348594 | C/G | 1.34e-10 |
| exon_skip_439732 | 5 | 172347366:172347487:172348529:172348629:172351007:172351064 | 172348529:172348629 | ENST00000523650.1 | LUAD | rs1559063 | chr5:172348594 | C/G | 2.70e-03 |
| exon_skip_439732 | 5 | 172347366:172347487:172348529:172348629:172351007:172351064 | 172348529:172348629 | ENST00000523650.1 | LIHC | rs1559063 | chr5:172348594 | C/G | 4.51e-05 |
| exon_skip_439732 | 5 | 172347366:172347487:172348529:172348629:172351007:172351064 | 172348529:172348629 | ENST00000523650.1 | LUSC | rs1559063 | chr5:172348594 | C/G | 1.33e-05 |
| exon_skip_439732 | 5 | 172347366:172347487:172348529:172348629:172351007:172351064 | 172348529:172348629 | ENST00000523650.1 | PRAD | rs1559063 | chr5:172348594 | C/G | 3.51e-11 |
| exon_skip_439732 | 5 | 172347366:172347487:172348529:172348629:172351007:172351064 | 172348529:172348629 | ENST00000523650.1 | PRAD | rs1559063 | chr5:172348594 | C/G | 3.34e-03 |
| exon_skip_439732 | 5 | 172347366:172347487:172348529:172348629:172351007:172351064 | 172348529:172348629 | ENST00000523650.1 | SARC | rs1559063 | chr5:172348594 | C/G | 1.27e-03 |
| exon_skip_439732 | 5 | 172347366:172347487:172348529:172348629:172351007:172351064 | 172348529:172348629 | ENST00000523650.1 | TGCT | rs1559063 | chr5:172348594 | C/G | 9.13e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ERGIC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ERGIC1 |
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RelatedDrugs for ERGIC1 |
| 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 ERGIC1 |
| 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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