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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 EDEM2 |
 Gene summary |
| Gene information | Gene symbol | EDEM2 | Gene ID | 55741 |
| Gene name | ER degradation enhancing alpha-mannosidase like protein 2 | |
| Synonyms | C20orf31|C20orf49|bA4204.1 | |
| Cytomap | 20q11.22 | |
| Type of gene | protein-coding | |
| Description | ER degradation-enhancing alpha-mannosidase-like protein 2ER degradation enhancer, mannosidase alpha-like 2ER degradation-enhancing alpha-mannosidase-like 2ER degradation-enhancing-mannosidase-like protein 2 | |
| Modification date | 20180522 | |
| UniProtAcc | Q9BV94 | |
| Context | PubMed: EDEM2 [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 EDEM2 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 EDEM2 |
| 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 EDEM2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_356337 | 20 | 33703169:33703736:33706400:33706522:33711692:33711837 | 33706400:33706522 | ENSG00000088298.8 | ENST00000541621.1,ENST00000374492.3,ENST00000374491.3,ENST00000542871.1 |
| exon_skip_356350 | 20 | 33706400:33706522:33711692:33711837:33714053:33714178 | 33711692:33711837 | ENSG00000088298.8 | ENST00000541621.1,ENST00000374492.3,ENST00000374491.3,ENST00000540582.1,ENST00000542871.1 |
| exon_skip_356354 | 20 | 33711692:33711837:33714053:33714178:33719444:33719586 | 33714053:33714178 | ENSG00000088298.8 | ENST00000541621.1,ENST00000374492.3,ENST00000374491.3,ENST00000540582.1,ENST00000542871.1 |
| exon_skip_356373 | 20 | 33714053:33714178:33719444:33719586:33721907:33721958 | 33719444:33719586 | ENSG00000088298.8 | ENST00000541621.1 |
| exon_skip_356374 | 20 | 33714053:33714178:33719444:33719586:33722540:33722752 | 33719444:33719586 | ENSG00000088298.8 | ENST00000374492.3,ENST00000374491.3,ENST00000540582.1 |
| exon_skip_356376 | 20 | 33714053:33714178:33719444:33719586:33730175:33730281 | 33719444:33719586 | ENSG00000088298.8 | ENST00000542871.1 |
| exon_skip_356384 | 20 | 33719444:33719586:33721907:33721958:33722540:33722744 | 33721907:33721958 | ENSG00000088298.8 | ENST00000541621.1 |
| exon_skip_356388 | 20 | 33719444:33719586:33722540:33722752:33725682:33725802 | 33722540:33722752 | ENSG00000088298.8 | ENST00000374492.3,ENST00000374491.3,ENST00000540582.1 |
| exon_skip_356394 | 20 | 33722540:33722752:33725682:33725808:33730175:33730281 | 33725682:33725808 | ENSG00000088298.8 | ENST00000541621.1,ENST00000374492.3,ENST00000374491.3,ENST00000540582.1 |
| exon_skip_356395 | 20 | 33730175:33730281:33732781:33732821:33734627:33734738 | 33732781:33732821 | ENSG00000088298.8 | ENST00000374492.3,ENST00000540582.1,ENST00000542871.1 |
| exon_skip_356418 | 20 | 33732781:33732821:33734627:33734738:33734954:33735122 | 33734627:33734738 | ENSG00000088298.8 | ENST00000374492.3,ENST00000542871.1 |
| exon_skip_356425 | 20 | 33734627:33734738:33804550:33804674:33805614:33805864 | 33804550:33804674 | ENSG00000088298.8 | ENST00000540582.1 |
| exon_skip_356429 | 20 | 33805614:33805864:33823883:33823994:33859807:33859948 | 33823883:33823994 | ENSG00000088298.8 | ENST00000540582.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EDEM2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_356337 | 20 | 33703169:33703736:33706400:33706522:33711692:33711837 | 33706400:33706522 | ENSG00000088298.8 | ENST00000374491.3,ENST00000374492.3,ENST00000541621.1,ENST00000542871.1 |
| exon_skip_356350 | 20 | 33706400:33706522:33711692:33711837:33714053:33714178 | 33711692:33711837 | ENSG00000088298.8 | ENST00000374491.3,ENST00000374492.3,ENST00000541621.1,ENST00000542871.1,ENST00000540582.1 |
| exon_skip_356354 | 20 | 33711692:33711837:33714053:33714178:33719444:33719586 | 33714053:33714178 | ENSG00000088298.8 | ENST00000374491.3,ENST00000374492.3,ENST00000541621.1,ENST00000542871.1,ENST00000540582.1 |
| exon_skip_356373 | 20 | 33714053:33714178:33719444:33719586:33721907:33721958 | 33719444:33719586 | ENSG00000088298.8 | ENST00000541621.1 |
| exon_skip_356374 | 20 | 33714053:33714178:33719444:33719586:33722540:33722752 | 33719444:33719586 | ENSG00000088298.8 | ENST00000374491.3,ENST00000374492.3,ENST00000540582.1 |
| exon_skip_356376 | 20 | 33714053:33714178:33719444:33719586:33730175:33730281 | 33719444:33719586 | ENSG00000088298.8 | ENST00000542871.1 |
| exon_skip_356384 | 20 | 33719444:33719586:33721907:33721958:33722540:33722744 | 33721907:33721958 | ENSG00000088298.8 | ENST00000541621.1 |
| exon_skip_356388 | 20 | 33719444:33719586:33722540:33722752:33725682:33725802 | 33722540:33722752 | ENSG00000088298.8 | ENST00000374491.3,ENST00000374492.3,ENST00000540582.1 |
| exon_skip_356394 | 20 | 33722540:33722752:33725682:33725808:33730175:33730281 | 33725682:33725808 | ENSG00000088298.8 | ENST00000374491.3,ENST00000374492.3,ENST00000541621.1,ENST00000540582.1 |
| exon_skip_356395 | 20 | 33730175:33730281:33732781:33732821:33734627:33734738 | 33732781:33732821 | ENSG00000088298.8 | ENST00000374492.3,ENST00000542871.1,ENST00000540582.1 |
| exon_skip_356418 | 20 | 33732781:33732821:33734627:33734738:33734954:33735122 | 33734627:33734738 | ENSG00000088298.8 | ENST00000374492.3,ENST00000542871.1 |
| exon_skip_356419 | 20 | 33732781:33732821:33734627:33734738:33804550:33804674 | 33734627:33734738 | ENSG00000088298.8 | ENST00000540582.1 |
| exon_skip_356425 | 20 | 33734627:33734738:33804550:33804674:33805614:33805864 | 33804550:33804674 | ENSG00000088298.8 | ENST00000540582.1 |
| exon_skip_356429 | 20 | 33805614:33805864:33823883:33823994:33859807:33859948 | 33823883:33823994 | ENSG00000088298.8 | ENST00000540582.1 |
| 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 EDEM2 |
| 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 |
| ENST00000374492 | 33706400 | 33706522 | Frame-shift |
| ENST00000374492 | 33711692 | 33711837 | Frame-shift |
| ENST00000374492 | 33714053 | 33714178 | Frame-shift |
| ENST00000374492 | 33719444 | 33719586 | Frame-shift |
| ENST00000374492 | 33722540 | 33722752 | Frame-shift |
| ENST00000374492 | 33732781 | 33732821 | Frame-shift |
| ENST00000374492 | 33725682 | 33725808 | In-frame |
| ENST00000374492 | 33734627 | 33734738 | 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 |
| ENST00000374492 | 33706400 | 33706522 | Frame-shift |
| ENST00000374492 | 33711692 | 33711837 | Frame-shift |
| ENST00000374492 | 33714053 | 33714178 | Frame-shift |
| ENST00000374492 | 33719444 | 33719586 | Frame-shift |
| ENST00000374492 | 33722540 | 33722752 | Frame-shift |
| ENST00000374492 | 33732781 | 33732821 | Frame-shift |
| ENST00000374492 | 33725682 | 33725808 | In-frame |
| ENST00000374492 | 33734627 | 33734738 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EDEM2 |
| 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 |
| ENST00000374492 | 1929 | 578 | 33734627 | 33734738 | 214 | 324 | 36 | 72 |
| ENST00000374492 | 1929 | 578 | 33725682 | 33725808 | 471 | 596 | 121 | 163 |
| 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 |
| ENST00000374492 | 1929 | 578 | 33734627 | 33734738 | 214 | 324 | 36 | 72 |
| ENST00000374492 | 1929 | 578 | 33725682 | 33725808 | 471 | 596 | 121 | 163 |
| 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 |
| 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 |
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SNVs in the skipped exons for EDEM2 |
| - 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. |
EDEM2_CESC_exon_skip_356388_psi_boxplot.png |
| - 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_356337 | 33706401 | 33706522 | 33706407 | 33706407 | Frame_Shift_Del | A | - | p.F369fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_356337 | 33706401 | 33706522 | 33706421 | 33706421 | Frame_Shift_Del | C | - | p.V365fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_356337 | 33706401 | 33706522 | 33706430 | 33706430 | Frame_Shift_Del | T | - | p.I362fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_356350 | 33711693 | 33711837 | 33711763 | 33711763 | Frame_Shift_Del | C | - | p.G307fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_356354 | 33714054 | 33714178 | 33714108 | 33714108 | Frame_Shift_Del | C | - | p.G264fs |
| UCEC | TCGA-AP-A051-01 | exon_skip_356354 | 33714054 | 33714178 | 33714066 | 33714066 | Nonsense_Mutation | C | T | p.W319* |
| SKCM | TCGA-D3-A8GV-06 | exon_skip_356354 | 33714054 | 33714178 | 33714127 | 33714127 | Nonsense_Mutation | C | T | p.W258* |
| BLCA | TCGA-BT-A42C-01 | exon_skip_356373 exon_skip_356374 exon_skip_356376 | 33719445 | 33719586 | 33719493 | 33719493 | Nonsense_Mutation | T | A | p.K225* |
| BLCA | TCGA-BT-A42C-01 | exon_skip_356373 exon_skip_356374 exon_skip_356376 | 33719445 | 33719586 | 33719493 | 33719493 | Nonsense_Mutation | T | A | p.K266* |
| COAD | TCGA-AA-A00A-01 | exon_skip_356388 | 33722541 | 33722752 | 33722565 | 33722565 | Nonsense_Mutation | C | T | p.W226X |
| CESC | TCGA-DS-A1OB-01 | exon_skip_356388 | 33722541 | 33722752 | 33722642 | 33722642 | Nonsense_Mutation | C | A | p.E160* |
| ESCA | TCGA-IG-A51D-01 | exon_skip_356373 exon_skip_356374 exon_skip_356376 | 33719445 | 33719586 | 33719587 | 33719587 | Splice_Site | C | T | . |
| ESCA | TCGA-IG-A51D-01 | exon_skip_356373 exon_skip_356374 exon_skip_356376 | 33719445 | 33719586 | 33719587 | 33719587 | Splice_Site | C | T | e7-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-DS-A1OB-01 |
| Cancer type: CESC | |
| ESID: exon_skip_356388 | |
| Skipped exon start: 33722541 | |
| Skipped exon end: 33722752 | |
| Mutation start: 33722642 | |
| Mutation end: 33722642 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E160* | |
exon_skip_356388_CESC_TCGA-DS-A1OB-01.png | |
exon_skip_365448_CESC_TCGA-DS-A1OB-01.png | |
exon_skip_383741_CESC_TCGA-DS-A1OB-01.png | |
exon_skip_383744_CESC_TCGA-DS-A1OB-01.png | |
| - 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 |
| NCIH2286_LUNG | 33706401 | 33706522 | 33706431 | 33706431 | Missense_Mutation | T | A | p.K402N |
| HCC2998_LARGE_INTESTINE | 33706401 | 33706522 | 33706431 | 33706431 | Missense_Mutation | T | G | p.K402N |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33706401 | 33706522 | 33706450 | 33706450 | Missense_Mutation | G | A | p.A396V |
| SUIT2_PANCREAS | 33706401 | 33706522 | 33706472 | 33706472 | Missense_Mutation | G | A | p.L389F |
| UBLC1_URINARY_TRACT | 33706401 | 33706522 | 33706492 | 33706492 | Missense_Mutation | C | T | p.R382H |
| CCFSTTG1_CENTRAL_NERVOUS_SYSTEM | 33711693 | 33711837 | 33711726 | 33711726 | Missense_Mutation | C | T | p.V361M |
| KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33711693 | 33711837 | 33711732 | 33711732 | Missense_Mutation | A | G | p.Y359H |
| CP66MEL_SKIN | 33711693 | 33711837 | 33711734 | 33711734 | Missense_Mutation | C | T | p.G358E |
| RERFLCSQ1_LUNG | 33711693 | 33711837 | 33711751 | 33711751 | Missense_Mutation | G | C | p.F352L |
| SKN_ENDOMETRIUM | 33714054 | 33714178 | 33714160 | 33714160 | Missense_Mutation | C | T | p.R288Q |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33719445 | 33719586 | 33719517 | 33719517 | Missense_Mutation | C | A | p.D258Y |
| KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33719445 | 33719586 | 33719520 | 33719520 | Missense_Mutation | C | T | p.V257M |
| MOLM16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33719445 | 33719586 | 33719520 | 33719520 | Missense_Mutation | C | T | p.V257M |
| GP2D_LARGE_INTESTINE | 33722541 | 33722752 | 33722617 | 33722617 | Missense_Mutation | G | A | p.T209I |
| GP5D_LARGE_INTESTINE | 33722541 | 33722752 | 33722617 | 33722617 | Missense_Mutation | G | A | p.T209I |
| COLO684_ENDOMETRIUM | 33722541 | 33722752 | 33722638 | 33722638 | Missense_Mutation | A | T | p.F202Y |
| NCIH446_LUNG | 33722541 | 33722752 | 33722678 | 33722678 | Missense_Mutation | C | A | p.V189F |
| NCIH2141_LUNG | 33722541 | 33722752 | 33722681 | 33722681 | Missense_Mutation | G | A | p.P188S |
| HS895T_FIBROBLAST | 33722541 | 33722752 | 33722689 | 33722689 | Missense_Mutation | C | T | p.G185E |
| SNU1040_LARGE_INTESTINE | 33725683 | 33725808 | 33725697 | 33725697 | Missense_Mutation | C | T | p.R159Q |
| NCIH1869_LUNG | 33725683 | 33725808 | 33725749 | 33725749 | Missense_Mutation | C | A | p.A142S |
| HSC1_SKIN | 33734628 | 33734738 | 33734715 | 33734715 | Missense_Mutation | T | C | p.Y44C |
| KPNYS_AUTONOMIC_GANGLIA | 33734628 | 33734738 | 33734715 | 33734715 | Missense_Mutation | T | C | p.Y44C |
| RCC10RGB_KIDNEY | 33734628 | 33734738 | 33734726 | 33734726 | Missense_Mutation | C | A | p.K40N |
| NCIH358_LUNG | 33734628 | 33734738 | 33734735 | 33734735 | Missense_Mutation | C | A | p.E37D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EDEM2 |
| 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 EDEM2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EDEM2 |
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RelatedDrugs for EDEM2 |
| 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 EDEM2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| EDEM2 | C0036341 | Schizophrenia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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