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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 COG7 |
Gene summary |
| Gene information | Gene symbol | COG7 | Gene ID | 91949 |
| Gene name | component of oligomeric golgi complex 7 | |
| Synonyms | CDG2E | |
| Cytomap | 16p12.2 | |
| Type of gene | protein-coding | |
| Description | conserved oligomeric Golgi complex subunit 7COG complex subunit 7 | |
| Modification date | 20180523 | |
| UniProtAcc | P83436 | |
| Context | PubMed: COG7 [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 COG7 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 COG7 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for COG7 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_143085 | 16 | 23400096:23400407:23403282:23403555:23403700:23403844 | 23403282:23403555 | ENSG00000168434.8 | ENST00000561854.1 |
| exon_skip_143087 | 16 | 23400096:23400407:23403700:23403844:23404553:23404613 | 23403700:23403844 | ENSG00000168434.8 | ENST00000307149.5,ENST00000566364.1 |
| exon_skip_143091 | 16 | 23404553:23404668:23409366:23409450:23415014:23415155 | 23409366:23409450 | ENSG00000168434.8 | ENST00000307149.5 |
| exon_skip_143093 | 16 | 23417396:23417583:23421615:23421681:23424768:23424885 | 23421615:23421681 | ENSG00000168434.8 | ENST00000307149.5,ENST00000567821.1 |
| exon_skip_143094 | 16 | 23421615:23421681:23424768:23424885:23428287:23428442 | 23424768:23424885 | ENSG00000168434.8 | ENST00000307149.5,ENST00000567821.1 |
| exon_skip_143096 | 16 | 23424768:23424885:23428287:23428442:23430020:23430148 | 23428287:23428442 | ENSG00000168434.8 | ENST00000307149.5 |
| exon_skip_143100 | 16 | 23428287:23428442:23430020:23430148:23436069:23436268 | 23430020:23430148 | ENSG00000168434.8 | ENST00000307149.5 |
| exon_skip_143103 | 16 | 23430020:23430148:23436069:23436268:23444865:23444988 | 23436069:23436268 | ENSG00000168434.8 | ENST00000307149.5 |
| exon_skip_143105 | 16 | 23436069:23436268:23444865:23444988:23445956:23446039 | 23444865:23444988 | ENSG00000168434.8 | ENST00000307149.5 |
| exon_skip_143107 | 16 | 23445956:23446039:23453797:23453966:23456368:23456485 | 23453797:23453966 | ENSG00000168434.8 | ENST00000307149.5 |
| exon_skip_143109 | 16 | 23453797:23453966:23456368:23456485:23457133:23457282 | 23456368:23456485 | ENSG00000168434.8 | ENST00000307149.5 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for COG7 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_143085 | 16 | 23400096:23400407:23403282:23403555:23403700:23403844 | 23403282:23403555 | ENSG00000168434.8 | ENST00000561854.1 |
| exon_skip_143087 | 16 | 23400096:23400407:23403700:23403844:23404553:23404613 | 23403700:23403844 | ENSG00000168434.8 | ENST00000307149.5,ENST00000566364.1 |
| exon_skip_143091 | 16 | 23404553:23404668:23409366:23409450:23415014:23415155 | 23409366:23409450 | ENSG00000168434.8 | ENST00000307149.5 |
| exon_skip_143093 | 16 | 23417396:23417583:23421615:23421681:23424768:23424885 | 23421615:23421681 | ENSG00000168434.8 | ENST00000307149.5,ENST00000567821.1 |
| exon_skip_143094 | 16 | 23421615:23421681:23424768:23424885:23428287:23428442 | 23424768:23424885 | ENSG00000168434.8 | ENST00000307149.5,ENST00000567821.1 |
| exon_skip_143096 | 16 | 23424768:23424885:23428287:23428442:23430020:23430148 | 23428287:23428442 | ENSG00000168434.8 | ENST00000307149.5 |
| exon_skip_143100 | 16 | 23428287:23428442:23430020:23430148:23436069:23436268 | 23430020:23430148 | ENSG00000168434.8 | ENST00000307149.5 |
| exon_skip_143103 | 16 | 23430020:23430148:23436069:23436268:23444865:23444988 | 23436069:23436268 | ENSG00000168434.8 | ENST00000307149.5 |
| exon_skip_143105 | 16 | 23436069:23436268:23444865:23444988:23445956:23446039 | 23444865:23444988 | ENSG00000168434.8 | ENST00000307149.5 |
| exon_skip_143107 | 16 | 23445956:23446039:23453797:23453966:23456368:23456485 | 23453797:23453966 | ENSG00000168434.8 | ENST00000307149.5 |
| exon_skip_143109 | 16 | 23453797:23453966:23456368:23456485:23457133:23457282 | 23456368:23456485 | ENSG00000168434.8 | ENST00000307149.5 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for COG7 |
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 |
| ENST00000307149 | 23428287 | 23428442 | Frame-shift |
| ENST00000307149 | 23430020 | 23430148 | Frame-shift |
| ENST00000307149 | 23436069 | 23436268 | Frame-shift |
| ENST00000307149 | 23453797 | 23453966 | Frame-shift |
| ENST00000307149 | 23403700 | 23403844 | In-frame |
| ENST00000307149 | 23409366 | 23409450 | In-frame |
| ENST00000307149 | 23421615 | 23421681 | In-frame |
| ENST00000307149 | 23424768 | 23424885 | In-frame |
| ENST00000307149 | 23444865 | 23444988 | In-frame |
| ENST00000307149 | 23456368 | 23456485 | 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 |
| ENST00000307149 | 23428287 | 23428442 | Frame-shift |
| ENST00000307149 | 23430020 | 23430148 | Frame-shift |
| ENST00000307149 | 23436069 | 23436268 | Frame-shift |
| ENST00000307149 | 23453797 | 23453966 | Frame-shift |
| ENST00000307149 | 23403700 | 23403844 | In-frame |
| ENST00000307149 | 23409366 | 23409450 | In-frame |
| ENST00000307149 | 23421615 | 23421681 | In-frame |
| ENST00000307149 | 23424768 | 23424885 | In-frame |
| ENST00000307149 | 23444865 | 23444988 | In-frame |
| ENST00000307149 | 23456368 | 23456485 | In-frame |
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Infer the effects of exon skipping event on protein functional features for COG7 |
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 |
| ENST00000307149 | 2943 | 770 | 23456368 | 23456485 | 505 | 621 | 106 | 145 |
| ENST00000307149 | 2943 | 770 | 23444865 | 23444988 | 874 | 996 | 229 | 270 |
| ENST00000307149 | 2943 | 770 | 23424768 | 23424885 | 1479 | 1595 | 431 | 469 |
| ENST00000307149 | 2943 | 770 | 23421615 | 23421681 | 1596 | 1661 | 470 | 491 |
| ENST00000307149 | 2943 | 770 | 23409366 | 23409450 | 1990 | 2073 | 601 | 629 |
| ENST00000307149 | 2943 | 770 | 23403700 | 23403844 | 2189 | 2332 | 667 | 715 |
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 |
| ENST00000307149 | 2943 | 770 | 23456368 | 23456485 | 505 | 621 | 106 | 145 |
| ENST00000307149 | 2943 | 770 | 23444865 | 23444988 | 874 | 996 | 229 | 270 |
| ENST00000307149 | 2943 | 770 | 23424768 | 23424885 | 1479 | 1595 | 431 | 469 |
| ENST00000307149 | 2943 | 770 | 23421615 | 23421681 | 1596 | 1661 | 470 | 491 |
| ENST00000307149 | 2943 | 770 | 23409366 | 23409450 | 1990 | 2073 | 601 | 629 |
| ENST00000307149 | 2943 | 770 | 23403700 | 23403844 | 2189 | 2332 | 667 | 715 |
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 |
| P83436 | 106 | 145 | 1 | 770 | Chain | ID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7 |
| P83436 | 229 | 270 | 1 | 770 | Chain | ID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7 |
| P83436 | 431 | 469 | 1 | 770 | Chain | ID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7 |
| P83436 | 470 | 491 | 1 | 770 | Chain | ID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7 |
| P83436 | 601 | 629 | 1 | 770 | Chain | ID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7 |
| P83436 | 601 | 629 | 605 | 605 | Natural variant | ID=VAR_048762;Note=T->M;Dbxref=dbSNP:rs16940094 |
| P83436 | 667 | 715 | 1 | 770 | Chain | ID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7 |
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 |
| P83436 | 106 | 145 | 1 | 770 | Chain | ID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7 |
| P83436 | 229 | 270 | 1 | 770 | Chain | ID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7 |
| P83436 | 431 | 469 | 1 | 770 | Chain | ID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7 |
| P83436 | 470 | 491 | 1 | 770 | Chain | ID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7 |
| P83436 | 601 | 629 | 1 | 770 | Chain | ID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7 |
| P83436 | 601 | 629 | 605 | 605 | Natural variant | ID=VAR_048762;Note=T->M;Dbxref=dbSNP:rs16940094 |
| P83436 | 667 | 715 | 1 | 770 | Chain | ID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7 |
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SNVs in the skipped exons for COG7 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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_143091 | 23409367 | 23409450 | 23409434 | 23409434 | Frame_Shift_Del | C | - | p.G607fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_143094 | 23424769 | 23424885 | 23424798 | 23424798 | Frame_Shift_Del | T | - | p.E460fs |
| COAD | TCGA-A6-5657-01 | exon_skip_143107 | 23453798 | 23453966 | 23453841 | 23453842 | Frame_Shift_Ins | - | A | p.L187fs |
| LIHC | TCGA-BC-A10T-01 | exon_skip_143107 | 23453798 | 23453966 | 23453841 | 23453842 | Frame_Shift_Ins | - | A | p.R187fs |
| LIHC | TCGA-BC-A10U-01 | exon_skip_143107 | 23453798 | 23453966 | 23453841 | 23453842 | Frame_Shift_Ins | - | A | p.R187fs |
| LUAD | TCGA-55-8089-01 | exon_skip_143096 | 23428288 | 23428442 | 23428349 | 23428349 | Nonsense_Mutation | T | A | p.R411* |
| BLCA | TCGA-ZF-AA4V-01 | exon_skip_143107 | 23453798 | 23453966 | 23453807 | 23453807 | Nonsense_Mutation | G | A | p.Q199* |
| UCEC | TCGA-BS-A0UJ-01 | exon_skip_143094 | 23424769 | 23424885 | 23424887 | 23424887 | Splice_Site | T | C | e10-2 |
| STAD | TCGA-B7-A5TI-01 | exon_skip_143107 | 23453798 | 23453966 | 23453967 | 23453967 | Splice_Site | C | A | . |
| UCEC | TCGA-A5-A0GH-01 | exon_skip_143107 | 23453798 | 23453966 | 23453967 | 23453967 | Splice_Site | C | A | p.D146_splice |
- 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 |
| BICR56_UPPER_AERODIGESTIVE_TRACT | 23403701 | 23403844 | 23403785 | 23403785 | Missense_Mutation | C | A | p.A688S |
| CAL78_BONE | 23409367 | 23409450 | 23409401 | 23409401 | Missense_Mutation | G | A | p.A618V |
| CW2_LARGE_INTESTINE | 23421616 | 23421681 | 23421653 | 23421653 | Missense_Mutation | G | A | p.R480W |
| SKMEL3_SKIN | 23424769 | 23424885 | 23424818 | 23424818 | Missense_Mutation | G | A | p.P454S |
| SW620_LARGE_INTESTINE | 23424769 | 23424885 | 23424860 | 23424860 | Missense_Mutation | G | C | p.L440V |
| CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23428288 | 23428442 | 23428322 | 23428322 | Missense_Mutation | C | T | p.G420S |
| NCIH841_LUNG | 23428288 | 23428442 | 23428322 | 23428322 | Missense_Mutation | C | T | p.G420S |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23428288 | 23428442 | 23428322 | 23428322 | Missense_Mutation | C | T | p.G420S |
| CW2_LARGE_INTESTINE | 23430021 | 23430148 | 23430031 | 23430031 | Missense_Mutation | G | A | p.A376V |
| HEC59_ENDOMETRIUM | 23430021 | 23430148 | 23430073 | 23430073 | Missense_Mutation | T | C | p.Y362C |
| HUT102_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23430021 | 23430148 | 23430124 | 23430124 | Missense_Mutation | G | A | p.T345M |
| HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23436070 | 23436268 | 23436133 | 23436133 | Missense_Mutation | C | T | p.E316K |
| HCC2108_LUNG | 23436070 | 23436268 | 23436205 | 23436205 | Missense_Mutation | G | C | p.P292A |
| SNU1033_LARGE_INTESTINE | 23436070 | 23436268 | 23436238 | 23436238 | Missense_Mutation | C | T | p.V281M |
| SW900_LUNG | 23444866 | 23444988 | 23444936 | 23444936 | Missense_Mutation | T | A | p.D247V |
| HCT116_LARGE_INTESTINE | 23453798 | 23453966 | 23453825 | 23453825 | Missense_Mutation | C | T | p.V193I |
| C10_LARGE_INTESTINE | 23453798 | 23453966 | 23453842 | 23453842 | Missense_Mutation | A | G | p.L187P |
| LOVO_LARGE_INTESTINE | 23453798 | 23453966 | 23453887 | 23453887 | Missense_Mutation | T | C | p.E172G |
| LS411N_LARGE_INTESTINE | 23453798 | 23453966 | 23453962 | 23453962 | Missense_Mutation | A | G | p.I147T |
| BT474_BREAST | 23456369 | 23456485 | 23456386 | 23456386 | Missense_Mutation | C | T | p.E140K |
| MCC26_SKIN | 23456369 | 23456485 | 23456431 | 23456431 | Missense_Mutation | G | C | p.L125V |
| HCT15_LARGE_INTESTINE | 23456369 | 23456485 | 23456442 | 23456442 | Missense_Mutation | G | A | p.A121V |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23428288 | 23428442 | 23428415 | 23428415 | Nonsense_Mutation | G | A | p.Q389* |
| HN_UPPER_AERODIGESTIVE_TRACT | 23421616 | 23421681 | 23421680 | 23421680 | Splice_Site | T | - | p.I472fs |
| EFO27_OVARY | 23444866 | 23444988 | 23444866 | 23444866 | Splice_Site | C | A | p.Q270H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for COG7 |
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 COG7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COG7 |
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RelatedDrugs for COG7 |
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 COG7 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |