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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 COPG1 |
 Gene summary |
| Gene information | Gene symbol | COPG1 | Gene ID | 22820 |
| Gene name | coatomer protein complex subunit gamma 1 | |
| Synonyms | COPG | |
| Cytomap | 3q21.3 | |
| Type of gene | protein-coding | |
| Description | coatomer subunit gamma-1coat protein gamma-copcoatomer protein complex, subunit gammacoatomer subunit gammagamma-1-COPgamma-1-coat proteingamma-COPgamma-coat protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y678 | |
| Context | PubMed: COPG1 [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 COPG1 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 COPG1 |
| 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 COPG1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_377467 | 3 | 128968495:128968589:128969524:128969577:128971123:128971204 | 128969524:128969577 | ENSG00000181789.10 | ENST00000515725.1,ENST00000513965.1 |
| exon_skip_377469 | 3 | 128968495:128968589:128969524:128969737:128971123:128971204 | 128969524:128969737 | ENSG00000181789.10 | ENST00000504350.1 |
| exon_skip_377471 | 3 | 128969524:128969577:128971123:128971204:128971465:128971537 | 128971123:128971204 | ENSG00000181789.10 | ENST00000314797.6,ENST00000515725.1,ENST00000513965.1 |
| exon_skip_377474 | 3 | 128971465:128971537:128971718:128971798:128973510:128973586 | 128971718:128971798 | ENSG00000181789.10 | ENST00000504350.1,ENST00000314797.6 |
| exon_skip_377476 | 3 | 128973510:128973586:128973827:128973920:128974910:128974997 | 128973827:128973920 | ENSG00000181789.10 | ENST00000314797.6,ENST00000515725.1 |
| exon_skip_377477 | 3 | 128974910:128974997:128976312:128976470:128976569:128976703 | 128976312:128976470 | ENSG00000181789.10 | ENST00000314797.6,ENST00000515725.1 |
| exon_skip_377479 | 3 | 128979461:128979650:128982746:128982842:128984391:128984518 | 128982746:128982842 | ENSG00000181789.10 | ENST00000504547.1,ENST00000314797.6,ENST00000515725.1 |
| exon_skip_377482 | 3 | 128984391:128984635:128985866:128985942:128986779:128986883 | 128985866:128985942 | ENSG00000181789.10 | ENST00000314797.6,ENST00000515725.1 |
| exon_skip_377493 | 3 | 128985866:128985942:128986779:128986883:128987337:128987463 | 128986779:128986883 | ENSG00000181789.10 | ENST00000314797.6,ENST00000515725.1 |
| exon_skip_377496 | 3 | 128986779:128986883:128987337:128987463:128987774:128987843 | 128987337:128987463 | ENSG00000181789.10 | ENST00000314797.6,ENST00000515725.1 |
| exon_skip_377497 | 3 | 128987337:128987463:128987774:128987843:128990609:128990752 | 128987774:128987843 | ENSG00000181789.10 | ENST00000314797.6,ENST00000515725.1 |
| exon_skip_377501 | 3 | 128991695:128991747:128992906:128992979:128993680:128993758 | 128992906:128992979 | ENSG00000181789.10 | ENST00000514478.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for COPG1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_377467 | 3 | 128968495:128968589:128969524:128969577:128971123:128971204 | 128969524:128969577 | ENSG00000181789.10 | ENST00000513965.1,ENST00000515725.1 |
| exon_skip_377469 | 3 | 128968495:128968589:128969524:128969737:128971123:128971204 | 128969524:128969737 | ENSG00000181789.10 | ENST00000504350.1 |
| exon_skip_377471 | 3 | 128969524:128969577:128971123:128971204:128971465:128971537 | 128971123:128971204 | ENSG00000181789.10 | ENST00000314797.6,ENST00000513965.1,ENST00000515725.1 |
| exon_skip_377474 | 3 | 128971465:128971537:128971718:128971798:128973510:128973586 | 128971718:128971798 | ENSG00000181789.10 | ENST00000314797.6,ENST00000504350.1 |
| exon_skip_377476 | 3 | 128973510:128973586:128973827:128973920:128974910:128974997 | 128973827:128973920 | ENSG00000181789.10 | ENST00000314797.6,ENST00000515725.1 |
| exon_skip_377477 | 3 | 128974910:128974997:128976312:128976470:128976569:128976703 | 128976312:128976470 | ENSG00000181789.10 | ENST00000314797.6,ENST00000515725.1 |
| exon_skip_377479 | 3 | 128979461:128979650:128982746:128982842:128984391:128984518 | 128982746:128982842 | ENSG00000181789.10 | ENST00000314797.6,ENST00000515725.1,ENST00000504547.1 |
| exon_skip_377482 | 3 | 128984391:128984635:128985866:128985942:128986779:128986883 | 128985866:128985942 | ENSG00000181789.10 | ENST00000314797.6,ENST00000515725.1 |
| exon_skip_377493 | 3 | 128985866:128985942:128986779:128986883:128987337:128987463 | 128986779:128986883 | ENSG00000181789.10 | ENST00000314797.6,ENST00000515725.1 |
| exon_skip_377496 | 3 | 128986779:128986883:128987337:128987463:128987774:128987843 | 128987337:128987463 | ENSG00000181789.10 | ENST00000314797.6,ENST00000515725.1 |
| exon_skip_377497 | 3 | 128987337:128987463:128987774:128987843:128990609:128990752 | 128987774:128987843 | ENSG00000181789.10 | ENST00000314797.6,ENST00000515725.1 |
| exon_skip_377501 | 3 | 128991695:128991747:128992906:128992979:128993680:128993758 | 128992906:128992979 | ENSG00000181789.10 | ENST00000514478.1 |
| 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 COPG1 |
| 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 |
| ENST00000314797 | 128971718 | 128971798 | Frame-shift |
| ENST00000314797 | 128976312 | 128976470 | Frame-shift |
| ENST00000314797 | 128985866 | 128985942 | Frame-shift |
| ENST00000314797 | 128986779 | 128986883 | Frame-shift |
| ENST00000314797 | 128971123 | 128971204 | In-frame |
| ENST00000314797 | 128973827 | 128973920 | In-frame |
| ENST00000314797 | 128982746 | 128982842 | In-frame |
| ENST00000314797 | 128987337 | 128987463 | In-frame |
| ENST00000314797 | 128987774 | 128987843 | 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 |
| ENST00000314797 | 128971718 | 128971798 | Frame-shift |
| ENST00000314797 | 128976312 | 128976470 | Frame-shift |
| ENST00000314797 | 128985866 | 128985942 | Frame-shift |
| ENST00000314797 | 128986779 | 128986883 | Frame-shift |
| ENST00000314797 | 128971123 | 128971204 | In-frame |
| ENST00000314797 | 128973827 | 128973920 | In-frame |
| ENST00000314797 | 128982746 | 128982842 | In-frame |
| ENST00000314797 | 128987337 | 128987463 | In-frame |
| ENST00000314797 | 128987774 | 128987843 | In-frame |
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Infer the effects of exon skipping event on protein functional features for COPG1 |
| 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 |
| ENST00000314797 | 3093 | 874 | 128971123 | 128971204 | 195 | 275 | 30 | 57 |
| ENST00000314797 | 3093 | 874 | 128973827 | 128973920 | 504 | 596 | 133 | 164 |
| ENST00000314797 | 3093 | 874 | 128982746 | 128982842 | 1233 | 1328 | 376 | 408 |
| ENST00000314797 | 3093 | 874 | 128987337 | 128987463 | 1753 | 1878 | 549 | 591 |
| ENST00000314797 | 3093 | 874 | 128987774 | 128987843 | 1879 | 1947 | 591 | 614 |
| 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 |
| ENST00000314797 | 3093 | 874 | 128971123 | 128971204 | 195 | 275 | 30 | 57 |
| ENST00000314797 | 3093 | 874 | 128973827 | 128973920 | 504 | 596 | 133 | 164 |
| ENST00000314797 | 3093 | 874 | 128982746 | 128982842 | 1233 | 1328 | 376 | 408 |
| ENST00000314797 | 3093 | 874 | 128987337 | 128987463 | 1753 | 1878 | 549 | 591 |
| ENST00000314797 | 3093 | 874 | 128987774 | 128987843 | 1879 | 1947 | 591 | 614 |
| 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 |
| Q9Y678 | 30 | 57 | 1 | 874 | Chain | ID=PRO_0000193858;Note=Coatomer subunit gamma-1 |
| Q9Y678 | 133 | 164 | 1 | 874 | Chain | ID=PRO_0000193858;Note=Coatomer subunit gamma-1 |
| Q9Y678 | 376 | 408 | 1 | 874 | Chain | ID=PRO_0000193858;Note=Coatomer subunit gamma-1 |
| Q9Y678 | 376 | 408 | 356 | 392 | Repeat | Note=HEAT 4 |
| Q9Y678 | 549 | 591 | 1 | 874 | Chain | ID=PRO_0000193858;Note=Coatomer subunit gamma-1 |
| Q9Y678 | 591 | 614 | 1 | 874 | Chain | ID=PRO_0000193858;Note=Coatomer subunit gamma-1 |
| Q9Y678 | 591 | 614 | 609 | 618 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R4X |
| Q9Y678 | 591 | 614 | 594 | 594 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9Y678 | 591 | 614 | 609 | 874 | Region | Note=Interaction with ZNF289/ARFGAP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14690497;Dbxref=PMID:14690497 |
| 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 |
| Q9Y678 | 30 | 57 | 1 | 874 | Chain | ID=PRO_0000193858;Note=Coatomer subunit gamma-1 |
| Q9Y678 | 133 | 164 | 1 | 874 | Chain | ID=PRO_0000193858;Note=Coatomer subunit gamma-1 |
| Q9Y678 | 376 | 408 | 1 | 874 | Chain | ID=PRO_0000193858;Note=Coatomer subunit gamma-1 |
| Q9Y678 | 376 | 408 | 356 | 392 | Repeat | Note=HEAT 4 |
| Q9Y678 | 549 | 591 | 1 | 874 | Chain | ID=PRO_0000193858;Note=Coatomer subunit gamma-1 |
| Q9Y678 | 591 | 614 | 1 | 874 | Chain | ID=PRO_0000193858;Note=Coatomer subunit gamma-1 |
| Q9Y678 | 591 | 614 | 609 | 618 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R4X |
| Q9Y678 | 591 | 614 | 594 | 594 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9Y678 | 591 | 614 | 609 | 874 | Region | Note=Interaction with ZNF289/ARFGAP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14690497;Dbxref=PMID:14690497 |
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SNVs in the skipped exons for COPG1 |
| - 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-A1EG-01 | exon_skip_377479 | 128982747 | 128982842 | 128982783 | 128982783 | Frame_Shift_Del | A | - | p.K389fs |
| UCEC | TCGA-BG-A187-01 | exon_skip_377482 | 128985867 | 128985942 | 128985900 | 128985900 | Frame_Shift_Del | A | - | p.Q501fs |
| LUSC | TCGA-18-3417-01 | exon_skip_377497 | 128987775 | 128987843 | 128987831 | 128987831 | Nonsense_Mutation | G | T | p.E611* |
| THYM | TCGA-YT-A95H-01 | exon_skip_377482 | 128985867 | 128985942 | 128985866 | 128985866 | Splice_Site | G | 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 |
| T3M10_LUNG | 128971124 | 128971204 | 128971130 | 128971130 | Missense_Mutation | G | A | p.V33I |
| NCIH2085_LUNG | 128971124 | 128971204 | 128971157 | 128971157 | Missense_Mutation | C | T | p.R42W |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128971124 | 128971204 | 128971166 | 128971166 | Missense_Mutation | G | T | p.A45S |
| HCC1569_BREAST | 128971719 | 128971798 | 128971726 | 128971726 | Missense_Mutation | T | C | p.L84P |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128971719 | 128971798 | 128971771 | 128971771 | Missense_Mutation | C | T | p.A99V |
| AU565_BREAST | 128971719 | 128971798 | 128971773 | 128971773 | Missense_Mutation | G | C | p.E100Q |
| LNCAPCLONEFGC_PROSTATE | 128973828 | 128973920 | 128973849 | 128973849 | Missense_Mutation | G | A | p.E141K |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128973828 | 128973920 | 128973880 | 128973880 | Missense_Mutation | A | C | p.K151T |
| DMS454_LUNG | 128976313 | 128976470 | 128976431 | 128976431 | Missense_Mutation | T | C | p.I233T |
| DBTRG05MG_CENTRAL_NERVOUS_SYSTEM | 128976313 | 128976470 | 128976436 | 128976436 | Missense_Mutation | G | A | p.V235M |
| HCC2157_BREAST | 128976313 | 128976470 | 128976460 | 128976460 | Missense_Mutation | G | C | p.E243Q |
| HEC108_ENDOMETRIUM | 128982747 | 128982842 | 128982812 | 128982812 | Missense_Mutation | G | C | p.M398I |
| 8305C_THYROID | 128985867 | 128985942 | 128985888 | 128985888 | Missense_Mutation | A | T | p.K497M |
| NCIH1930_LUNG | 128986780 | 128986883 | 128986847 | 128986847 | Missense_Mutation | A | C | p.K538Q |
| HEC59_ENDOMETRIUM | 128987338 | 128987463 | 128987346 | 128987346 | Missense_Mutation | G | A | p.V553M |
| RERFLCAD2_LUNG | 128987338 | 128987463 | 128987398 | 128987398 | Missense_Mutation | C | T | p.S570L |
| SCC15_UPPER_AERODIGESTIVE_TRACT | 128987775 | 128987843 | 128987788 | 128987788 | Missense_Mutation | C | G | p.I596M |
| CAOV3_OVARY | 128973828 | 128973920 | 128973829 | 128973829 | Splice_Site | G | T | p.S134I |
| NCIH630_LARGE_INTESTINE | 128976313 | 128976470 | 128976314 | 128976314 | Splice_Site | A | G | p.Y194C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for COPG1 |
| 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 COPG1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COPG1 |
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RelatedDrugs for COPG1 |
| 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 COPG1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| COPG1 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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