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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 COG4 |
 Gene summary |
| Gene information | Gene symbol | COG4 | Gene ID | 25839 |
| Gene name | component of oligomeric golgi complex 4 | |
| Synonyms | CDG2J|COD1 | |
| Cytomap | 16q22.1 | |
| Type of gene | protein-coding | |
| Description | conserved oligomeric Golgi complex subunit 4COG complex subunit 4complexed with Dor1pconserved oligomeric Golgi complex protein 4 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9H9E3 | |
| Context | PubMed: COG4 [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 COG4 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 COG4 |
| 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 COG4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_145743 | 16 | 70514769:70515047:70515261:70515390:70515666:70515768 | 70515261:70515390 | ENSG00000103051.14 | ENST00000323786.5,ENST00000565715.1,ENST00000526700.1,ENST00000482252.1,ENST00000564415.1,ENST00000530314.1 |
| exon_skip_145746 | 16 | 70515666:70515768:70515994:70516078:70516631:70516697 | 70515994:70516078 | ENSG00000103051.14 | ENST00000323786.5,ENST00000526700.1,ENST00000482252.1,ENST00000564415.1,ENST00000530314.1 |
| exon_skip_145748 | 16 | 70517755:70517872:70524232:70524295:70530168:70530275 | 70524232:70524295 | ENSG00000103051.14 | ENST00000323786.5,ENST00000564315.1,ENST00000482252.1,ENST00000564415.1,ENST00000530314.1 |
| exon_skip_145750 | 16 | 70524232:70524295:70530168:70530334:70531123:70531290 | 70530168:70530334 | ENSG00000103051.14 | ENST00000323786.5,ENST00000482252.1,ENST00000564415.1,ENST00000530314.1 |
| exon_skip_145753 | 16 | 70531123:70531290:70531839:70531958:70534860:70534992 | 70531839:70531958 | ENSG00000103051.14 | ENST00000323786.5,ENST00000526700.1,ENST00000482252.1,ENST00000564415.1,ENST00000530314.1 |
| exon_skip_145755 | 16 | 70531875:70531958:70534860:70534994:70542308:70542367 | 70534860:70534994 | ENSG00000103051.14 | ENST00000323786.5,ENST00000526700.1,ENST00000482252.1,ENST00000564415.1,ENST00000530314.1 |
| exon_skip_145756 | 16 | 70542308:70542367:70542568:70542727:70543133:70543291 | 70542568:70542727 | ENSG00000103051.14 | ENST00000482252.1 |
| exon_skip_145761 | 16 | 70546276:70546335:70548237:70548412:70549770:70549943 | 70548237:70548412 | ENSG00000103051.14 | ENST00000564415.1 |
| exon_skip_145762 | 16 | 70546276:70546335:70548237:70548412:70551528:70551643 | 70548237:70548412 | ENSG00000103051.14 | ENST00000323786.5,ENST00000562200.1,ENST00000524584.1,ENST00000393612.4,ENST00000482252.1,ENST00000534772.1,ENST00000530314.1 |
| exon_skip_145764 | 16 | 70548268:70548412:70549770:70549943:70551528:70551643 | 70549770:70549943 | ENSG00000103051.14 | ENST00000564415.1 |
| exon_skip_145765 | 16 | 70548268:70548412:70551528:70551643:70553551:70553634 | 70551528:70551643 | ENSG00000103051.14 | ENST00000323786.5,ENST00000562200.1,ENST00000393612.4,ENST00000482252.1,ENST00000534772.1,ENST00000564653.1 |
| exon_skip_145767 | 16 | 70551528:70551643:70553551:70553634:70557275:70557421 | 70553551:70553634 | ENSG00000103051.14 | ENST00000323786.5,ENST00000562200.1,ENST00000393612.4,ENST00000482252.1,ENST00000564653.1 |
| exon_skip_145768 | 16 | 70551528:70551643:70553579:70553634:70557275:70557421 | 70553579:70553634 | ENSG00000103051.14 | ENST00000524584.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for COG4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_145743 | 16 | 70514769:70515047:70515261:70515390:70515666:70515768 | 70515261:70515390 | ENSG00000103051.14 | ENST00000564415.1,ENST00000323786.5,ENST00000530314.1,ENST00000482252.1,ENST00000526700.1,ENST00000565715.1 |
| exon_skip_145746 | 16 | 70515666:70515768:70515994:70516078:70516631:70516697 | 70515994:70516078 | ENSG00000103051.14 | ENST00000564415.1,ENST00000323786.5,ENST00000530314.1,ENST00000482252.1,ENST00000526700.1 |
| exon_skip_145748 | 16 | 70517755:70517872:70524232:70524295:70530168:70530275 | 70524232:70524295 | ENSG00000103051.14 | ENST00000564415.1,ENST00000323786.5,ENST00000530314.1,ENST00000482252.1,ENST00000564315.1 |
| exon_skip_145750 | 16 | 70524232:70524295:70530168:70530334:70531123:70531290 | 70530168:70530334 | ENSG00000103051.14 | ENST00000564415.1,ENST00000323786.5,ENST00000530314.1,ENST00000482252.1 |
| exon_skip_145753 | 16 | 70531123:70531290:70531839:70531958:70534860:70534992 | 70531839:70531958 | ENSG00000103051.14 | ENST00000564415.1,ENST00000323786.5,ENST00000530314.1,ENST00000482252.1,ENST00000526700.1 |
| exon_skip_145755 | 16 | 70531875:70531958:70534860:70534994:70542308:70542367 | 70534860:70534994 | ENSG00000103051.14 | ENST00000564415.1,ENST00000323786.5,ENST00000530314.1,ENST00000482252.1,ENST00000526700.1 |
| exon_skip_145756 | 16 | 70542308:70542367:70542568:70542727:70543133:70543291 | 70542568:70542727 | ENSG00000103051.14 | ENST00000482252.1 |
| exon_skip_145761 | 16 | 70546276:70546335:70548237:70548412:70549770:70549943 | 70548237:70548412 | ENSG00000103051.14 | ENST00000564415.1 |
| exon_skip_145762 | 16 | 70546276:70546335:70548237:70548412:70551528:70551643 | 70548237:70548412 | ENSG00000103051.14 | ENST00000323786.5,ENST00000530314.1,ENST00000482252.1,ENST00000393612.4,ENST00000562200.1,ENST00000534772.1,ENST00000524584.1 |
| exon_skip_145764 | 16 | 70548268:70548412:70549770:70549943:70551528:70551643 | 70549770:70549943 | ENSG00000103051.14 | ENST00000564415.1 |
| exon_skip_145765 | 16 | 70548268:70548412:70551528:70551643:70553551:70553634 | 70551528:70551643 | ENSG00000103051.14 | ENST00000323786.5,ENST00000482252.1,ENST00000393612.4,ENST00000562200.1,ENST00000564653.1,ENST00000534772.1 |
| exon_skip_145767 | 16 | 70551528:70551643:70553551:70553634:70557275:70557421 | 70553551:70553634 | ENSG00000103051.14 | ENST00000323786.5,ENST00000482252.1,ENST00000393612.4,ENST00000562200.1,ENST00000564653.1 |
| exon_skip_145768 | 16 | 70551528:70551643:70553579:70553634:70557275:70557421 | 70553579:70553634 | ENSG00000103051.14 | ENST00000524584.1 |
| 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 COG4 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for COG4 |
| 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 |
| 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 |
| 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 COG4 |
| - 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-A39Y-01 | exon_skip_145750 | 70530169 | 70530334 | 70530267 | 70530267 | Frame_Shift_Del | C | - | p.V517fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_145750 | 70530169 | 70530334 | 70530305 | 70530305 | Frame_Shift_Del | C | - | p.G504fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_145753 | 70531840 | 70531958 | 70531854 | 70531854 | Frame_Shift_Del | C | - | p.E434fs |
| DLBC | TCGA-FA-A7Q1-01 | exon_skip_145743 | 70515262 | 70515390 | 70515315 | 70515315 | Nonsense_Mutation | G | A | p.R728X |
| LUSC | TCGA-56-6546-01 | exon_skip_145753 | 70531840 | 70531958 | 70531872 | 70531872 | Nonsense_Mutation | C | A | p.E428* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_145755 | 70534861 | 70534994 | 70534993 | 70534993 | Nonsense_Mutation | C | A | p.E355* |
| ESCA | TCGA-L5-A8NQ-01 | exon_skip_145765 | 70551529 | 70551643 | 70551570 | 70551570 | Nonsense_Mutation | C | A | p.E110* |
| ESCA | TCGA-L5-A8NQ-01 | exon_skip_145765 | 70551529 | 70551643 | 70551570 | 70551570 | Nonsense_Mutation | C | A | p.E110X |
| UCS | TCGA-N9-A4Q7-01 | exon_skip_145761 exon_skip_145762 | 70548238 | 70548412 | 70548413 | 70548413 | Splice_Site | C | T | . |
| - 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 | 70524233 | 70524295 | 70524270 | 70524270 | Missense_Mutation | C | T | p.C558Y |
| DOV13_OVARY | 70530169 | 70530334 | 70530185 | 70530185 | Missense_Mutation | G | A | p.A544V |
| HEC108_ENDOMETRIUM | 70531840 | 70531958 | 70531883 | 70531883 | Missense_Mutation | T | C | p.Y424C |
| SF767_CENTRAL_NERVOUS_SYSTEM | 70531840 | 70531958 | 70531944 | 70531944 | Missense_Mutation | G | C | p.L404V |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70534861 | 70534994 | 70534954 | 70534954 | Missense_Mutation | C | T | p.A368T |
| MERO41_LUNG | 70548238 | 70548412 | 70548270 | 70548270 | Missense_Mutation | G | A | p.S171L |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70548238 | 70548412 | 70548327 | 70548327 | Missense_Mutation | C | T | p.S152N |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70551529 | 70551643 | 70551549 | 70551549 | Missense_Mutation | G | A | p.R117C |
| NEC8_TESTIS | 70551529 | 70551643 | 70551549 | 70551549 | Missense_Mutation | G | A | p.R117C |
| SCABER_URINARY_TRACT | 70553552 | 70553634 | 70553567 | 70553567 | Missense_Mutation | G | A | p.T80I |
| SU8686_PANCREAS | 70548238 | 70548412 | 70548412 | 70548412 | Splice_Site | T | C | p.N124D |
| HCT15_LARGE_INTESTINE | 70551529 | 70551643 | 70551529 | 70551529 | Splice_Site | C | A | p.K123N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for COG4 |
| 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_145756 | 16 | 70542308:70542367:70542568:70542727:70543133:70543291 | 70542568:70542727 | ENST00000482252.1 | UCEC | rs8053883 | chr16:70542721 | C/T | 2.64e-05 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COG4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COG4 |
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RelatedDrugs for COG4 |
| 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 COG4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| COG4 | C0032927 | Precancerous Conditions | 1 | CTD_human |
| COG4 | C3150736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj | 1 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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