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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 ERGIC3 |
 Gene summary |
| Gene information | Gene symbol | ERGIC3 | Gene ID | 51614 |
| Gene name | ERGIC and golgi 3 | |
| Synonyms | C20orf47|C2orf47|CGI-54|Erv46|NY-BR-84|PRO0989|SDBCAG84|dJ477O4.2 | |
| Cytomap | 20q11.22 | |
| Type of gene | protein-coding | |
| Description | endoplasmic reticulum-Golgi intermediate compartment protein 3endoplasmic reticulum-localized protein ERp43serologically defined breast cancer antigen 84serologically defined breast cancer antigen NY-BR-84 | |
| 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 ERGIC3 |
| 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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ENSG00000125991
| 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 |
| PG | DOWN | ENST00000357394.8 | ERGIC3-203:protein_coding:ERGIC3 | 1.479737e+02 | -8.975599e-01 | 1.985989e-06 | 1.504748e-04 |
| CB | DOWN | ENST00000451605.1 | ERGIC3-210:protein_coding:ERGIC3 | 6.960244e+01 | -3.363441e+00 | 2.085786e-12 | 2.730187e-10 |
| TC | DOWN | ENST00000465298.1 | ERGIC3-212:retained_intron:ERGIC3 | 1.576922e+01 | -9.902795e-01 | 3.969617e-11 | 8.922299e-09 |
| TC | DOWN | ENST00000451605.1 | ERGIC3-210:protein_coding:ERGIC3 | 7.790589e+01 | -2.899383e+00 | 4.093831e-11 | 9.156601e-09 |
| 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 ERGIC3 |
| 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_132999 | chr20 | 35555044:35555075:35556033:35556129:35556207:35556262 | 35556033:35556129 |
| exon_skip_133269 | chr20 | 35555058:35555075:35556033:35556129:35556207:35556262 | 35556033:35556129 |
| exon_skip_198398 | chr20 | 35548808:35548865:35549163:35549207:35555044:35555075 | 35549163:35549207 |
| exon_skip_21486 | chr20 | 35542323:35542393:35542513:35542600:35542822:35542839 | 35542513:35542600 |
| exon_skip_225134 | chr20 | 35548808:35548865:35554372:35554386:35555044:35555075 | 35554372:35554386 |
| exon_skip_261608 | chr20 | 35542822:35542941:35543661:35543804:35547412:35547435 | 35543661:35543804 |
| exon_skip_286247 | chr20 | 35542864:35542941:35543661:35543804:35547412:35547471 | 35543661:35543804 |
| exon_skip_32605 | chr20 | 35548808:35548865:35555044:35555075:35556033:35556129 | 35555044:35555075 |
| exon_skip_48797 | chr20 | 35542323:35542393:35542513:35542600:35542822:35542941 | 35542513:35542600 |
| exon_skip_63201 | chr20 | 35542822:35542941:35543661:35543804:35547412:35547471 | 35543661:35543804 |
| 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_225134 | MSBB_STG | 4.288060e-01 | 5.716667e-01 | -1.428607e-01 | 2.582200e-02 |
| exon_skip_225134 | MSBB_PG | 2.986822e-01 | 5.125926e-01 | -2.139104e-01 | 2.058450e-04 |
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Open reading frame (ORF) annotation in the exon skipping event for ERGIC3 |
| 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 |
| ENST00000348547 | 35542513 | 35542600 | Frame-shift |
| ENST00000348547 | 35556033 | 35556129 | Frame-shift |
| 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 |
| ENST00000348547 | 35542513 | 35542600 | Frame-shift |
| ENST00000348547 | 35556033 | 35556129 | Frame-shift |
| 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 |
| ENST00000348547 | 35542513 | 35542600 | Frame-shift |
| ENST00000348547 | 35555044 | 35555075 | Frame-shift |
| ENST00000348547 | 35556033 | 35556129 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for ERGIC3 |
p-ENSG00000125991_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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ERGIC3 |
| 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 ERGIC3 |
| - 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 ERGIC3 |
| 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 ERGIC3 |
| 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 ERGIC3 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM45 | exon_skip_225134 | 4.515472e-01 | 2.315738e-09 |
| HCC | RBM45 | exon_skip_225134 | -5.055072e-01 | 4.087991e-19 |
| PG | RBM45 | exon_skip_225134 | 4.657405e-01 | 3.061370e-11 |
| TC | RBM45 | exon_skip_225134 | 4.713324e-01 | 3.163339e-10 |
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RelatedDrugs for ERGIC3 |
| 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 ERGIC3 |
| 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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