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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 EDEM3 |
 Gene summary |
| Gene information | Gene symbol | EDEM3 | Gene ID | 80267 |
| Gene name | ER degradation enhancing alpha-mannosidase like protein 3 | |
| Synonyms | C1orf22 | |
| Cytomap | 1q25.3 | |
| Type of gene | protein-coding | |
| Description | ER degradation-enhancing alpha-mannosidase-like protein 3ER degradation enhancer, mannosidase alpha-like 3ER degradation-enhancing -mannosidase-like protein 3ER degradation-enhancing alpha-mannosidase-like 3alpha-1,2-mannosidase EDEM3 | |
| Modification date | 20200313 | |
| UniProtAcc | H0Y498, Q9BZQ6, | |
| 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 EDEM3 |
| 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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ENSG00000116406
| 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 |
| TC | UP | ENST00000318130.13 | EDEM3-201:protein_coding:EDEM3 | 3.532050e+02 | 1.148385e+00 | 2.595038e-06 | 8.782252e-05 |
| 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 EDEM3 |
| 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_170972 | chr1 | 184690503:184692145:184693366:184693432:184694044:184694472 | 184693366:184693432 |
| exon_skip_2430 | chr1 | 184734531:184734643:184737025:184737064:184737611:184737711 | 184737025:184737064 |
| exon_skip_269254 | chr1 | 184694468:184694472:184701497:184701544:184702811:184702996 | 184701497:184701544 |
| exon_skip_27539 | chr1 | 184737611:184737711:184749547:184749592:184754489:184754649 | 184749547:184749592 |
| exon_skip_285790 | chr1 | 184716888:184717012:184717540:184717623:184719162:184719245 | 184717540:184717623 |
| exon_skip_5494 | chr1 | 184694468:184694472:184701497:184701544:184702811:184702952 | 184701497:184701544 |
| exon_skip_56995 | chr1 | 184737611:184737711:184749547:184749592:184754489:184754858 | 184749547:184749592 |
| 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_5494 | Mayo_TC | 8.075000e-02 | 1.962500e-01 | -1.155000e-01 | 8.853507e-07 |
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Open reading frame (ORF) annotation in the exon skipping event for EDEM3 |
| 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 |
| ENST00000318130 | 184737025 | 184737064 | 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 |
| ENST00000318130 | 184717540 | 184717623 | 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 |
| ENST00000318130 | 184737025 | 184737064 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for EDEM3 |
p-ENSG00000116406_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 |
| ENST00000318130 | 6915 | 932 | 184717540 | 184717623 | 1429 | 1511 | 387 | 414 |
| 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 |
| Q9BZQ6 | 387 | 414 | 387 | 387 | Active site | Note=Proton donor;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P31723 |
| Q9BZQ6 | 387 | 414 | 405 | 405 | Active site | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9BZQ6 | 387 | 414 | 42 | 932 | Chain | ID=PRO_0000210323;Note=ER degradation-enhancing alpha-mannosidase-like protein 3 |
| 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 EDEM3 |
| 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 EDEM3 |
| - 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 EDEM3 |
| 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 EDEM3 |
| 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 EDEM3 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM41 | exon_skip_166547 | 4.332073e-01 | 3.264107e-07 |
| CB | ELAVL4 | exon_skip_5494 | 4.279193e-01 | 2.504161e-07 |
| CB | RBM41 | exon_skip_5494 | 4.187614e-01 | 4.766161e-07 |
| FL | ELAVL4 | exon_skip_5494 | 5.984143e-01 | 6.458354e-17 |
| FL | KHDRBS3 | exon_skip_5494 | 5.090645e-01 | 6.259722e-12 |
| FL | SRSF2 | exon_skip_126512 | 4.313775e-01 | 1.031808e-07 |
| FL | KHDRBS3 | exon_skip_126512 | 5.305745e-01 | 1.555741e-11 |
| HCC | RBMS2 | exon_skip_166547 | -5.538118e-01 | 7.317830e-23 |
| HCC | SFPQ | exon_skip_166547 | -5.139669e-01 | 2.104728e-19 |
| HCC | TRNAU1AP | exon_skip_166547 | -4.065658e-01 | 4.742281e-12 |
| HCC | UNK | exon_skip_166547 | -4.639096e-01 | 1.181429e-15 |
| HCC | SF1 | exon_skip_166547 | -4.118429e-01 | 2.355621e-12 |
| HCC | KHDRBS3 | exon_skip_166547 | -4.178713e-01 | 1.043237e-12 |
| HCC | RBMS2 | exon_skip_5494 | -6.210067e-01 | 7.234681e-30 |
| HCC | SFPQ | exon_skip_5494 | -6.056966e-01 | 4.007238e-28 |
| HCC | SRSF11 | exon_skip_5494 | -4.897629e-01 | 1.632032e-17 |
| HCC | TRNAU1AP | exon_skip_5494 | -4.332531e-01 | 1.211246e-13 |
| HCC | RBM47 | exon_skip_5494 | -5.029479e-01 | 1.592321e-18 |
| HCC | UNK | exon_skip_5494 | -5.050426e-01 | 1.089940e-18 |
| HCC | SF1 | exon_skip_5494 | -4.872583e-01 | 2.510958e-17 |
| HCC | KHDRBS3 | exon_skip_5494 | -5.231733e-01 | 3.665248e-20 |
| HCC | FUBP1 | exon_skip_5494 | -4.609033e-01 | 1.899499e-15 |
| HCC | RBM41 | exon_skip_5494 | -4.505437e-01 | 9.418466e-15 |
| HCC | RBMS2 | exon_skip_187322 | -5.533358e-01 | 8.099723e-23 |
| HCC | KHDRBS3 | exon_skip_187322 | -4.488957e-01 | 1.209034e-14 |
| HCC | RBMS2 | exon_skip_1986 | -5.717552e-01 | 1.411288e-24 |
| HCC | SRSF11 | exon_skip_1986 | -4.621262e-01 | 1.566729e-15 |
| HCC | KHDRBS3 | exon_skip_1986 | -4.999607e-01 | 2.721793e-18 |
| IFG | KHDRBS3 | exon_skip_1986 | 4.998377e-01 | 2.103984e-02 |
| PCC | RBMS2 | exon_skip_166547 | -6.348691e-01 | 2.138340e-23 |
| PCC | RBMS3 | exon_skip_166547 | -4.580232e-01 | 1.667603e-11 |
| PCC | ELAVL4 | exon_skip_166547 | 4.963160e-01 | 1.600598e-13 |
| PCC | RBM47 | exon_skip_166547 | -4.776500e-01 | 1.656543e-12 |
| PCC | PCBP4 | exon_skip_166547 | -4.046997e-01 | 4.411561e-09 |
| PCC | RBMS2 | exon_skip_5494 | -6.766598e-01 | 9.968378e-28 |
| PCC | RBMS3 | exon_skip_5494 | -4.897357e-01 | 2.804491e-13 |
| PCC | ELAVL4 | exon_skip_5494 | 5.566238e-01 | 2.014828e-17 |
| PCC | RBM47 | exon_skip_5494 | -5.257488e-01 | 2.139985e-15 |
| PCC | PCBP4 | exon_skip_5494 | -4.178989e-01 | 9.958463e-10 |
| PCC | RBMS2 | exon_skip_252702 | -6.473164e-01 | 2.019006e-24 |
| PCC | RBMS3 | exon_skip_252702 | -4.418797e-01 | 1.118647e-10 |
| PCC | RBMS2 | exon_skip_1986 | -6.242853e-01 | 1.830287e-22 |
| PCC | RBMS3 | exon_skip_1986 | -4.037827e-01 | 4.815702e-09 |
| STG | ELAVL4 | exon_skip_5494 | 6.347724e-01 | 2.769488e-09 |
| STG | KHDRBS2 | exon_skip_5494 | 4.673271e-01 | 3.978250e-05 |
| STG | KHDRBS3 | exon_skip_5494 | 5.614621e-01 | 3.509788e-07 |
| STG | HNRNPDL | exon_skip_5494 | 4.151039e-01 | 3.188259e-04 |
| STG | NUP42 | exon_skip_5494 | 4.127722e-01 | 3.472104e-04 |
| STG | ZCRB1 | exon_skip_5494 | 4.117258e-01 | 3.606856e-04 |
| TC | RBMS2 | exon_skip_166547 | -4.064888e-01 | 1.096499e-06 |
| TC | SRSF2 | exon_skip_166547 | 4.993681e-01 | 8.152844e-10 |
| TC | ELAVL4 | exon_skip_166547 | 7.362217e-01 | 3.862306e-24 |
| TC | RC3H1 | exon_skip_166547 | 4.328427e-01 | 1.757725e-07 |
| TC | KHDRBS2 | exon_skip_166547 | 7.348734e-01 | 5.146274e-24 |
| TC | KHDRBS3 | exon_skip_166547 | 6.997184e-01 | 5.180458e-21 |
| TC | HNRNPDL | exon_skip_166547 | 5.499596e-01 | 5.875707e-12 |
| TC | HNRNPD | exon_skip_166547 | 6.520082e-01 | 1.427769e-17 |
| TC | NUP42 | exon_skip_166547 | 5.981946e-01 | 2.306480e-14 |
| TC | SRSF5 | exon_skip_166547 | 4.112279e-01 | 7.979666e-07 |
| TC | RBMS2 | exon_skip_5494 | -5.101321e-01 | 2.241472e-10 |
| TC | SRSF2 | exon_skip_5494 | 5.489209e-01 | 4.548221e-12 |
| TC | ELAVL4 | exon_skip_5494 | 8.555072e-01 | 3.989218e-40 |
| TC | SRSF11 | exon_skip_5494 | 4.585907e-01 | 1.970818e-08 |
| TC | KHDRBS2 | exon_skip_5494 | 8.600951e-01 | 5.389765e-41 |
| TC | KHDRBS3 | exon_skip_5494 | 8.148049e-01 | 1.576511e-33 |
| TC | HNRNPDL | exon_skip_5494 | 5.474223e-01 | 5.337266e-12 |
| TC | HNRNPD | exon_skip_5494 | 7.146318e-01 | 1.520932e-22 |
| TC | NUP42 | exon_skip_5494 | 6.888600e-01 | 1.874118e-20 |
| TC | SRSF5 | exon_skip_5494 | 4.335215e-01 | 1.349222e-07 |
| TC | SRSF2 | exon_skip_187322 | 5.076457e-01 | 3.841184e-10 |
| TC | RC3H1 | exon_skip_187322 | 4.470902e-01 | 6.112118e-08 |
| TC | KHDRBS2 | exon_skip_187322 | 7.442355e-01 | 6.759947e-25 |
| TC | KHDRBS3 | exon_skip_187322 | 7.041437e-01 | 2.294458e-21 |
| TC | HNRNPDL | exon_skip_187322 | 5.446491e-01 | 1.025545e-11 |
| TC | HNRNPD | exon_skip_187322 | 6.591305e-01 | 4.793684e-18 |
| TC | NUP42 | exon_skip_187322 | 5.740454e-01 | 4.136560e-13 |
| TC | SRSF5 | exon_skip_187322 | 4.240618e-01 | 3.291575e-07 |
| TC | SRSF2 | exon_skip_126512 | 5.513275e-01 | 3.511905e-12 |
| TC | SRSF11 | exon_skip_126512 | 5.051675e-01 | 3.565781e-10 |
| TC | RC3H1 | exon_skip_126512 | 4.481673e-01 | 4.468818e-08 |
| TC | KHDRBS2 | exon_skip_126512 | 7.706643e-01 | 5.312319e-28 |
| TC | KHDRBS3 | exon_skip_126512 | 7.269493e-01 | 1.256900e-23 |
| TC | HNRNPDL | exon_skip_126512 | 5.565081e-01 | 1.998663e-12 |
| TC | HNRNPD | exon_skip_126512 | 6.857819e-01 | 3.221453e-20 |
| TC | NUP42 | exon_skip_126512 | 5.927882e-01 | 2.894138e-14 |
| TC | SRSF5 | exon_skip_126512 | 4.305758e-01 | 1.674576e-07 |
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RelatedDrugs for EDEM3 |
| 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 EDEM3 |
| 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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