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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for COG7

check button Gene summary
Gene informationGene symbol

COG7

Gene ID

91949

Gene namecomponent of oligomeric golgi complex 7
SynonymsCDG2E
Cytomap

16p12.2

Type of geneprotein-coding
Descriptionconserved oligomeric Golgi complex subunit 7COG complex subunit 7
Modification date20180523
UniProtAcc

P83436

ContextPubMed: COG7 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for COG7 from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for COG7

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for COG7

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1430851623400096:23400407:23403282:23403555:23403700:2340384423403282:23403555ENSG00000168434.8ENST00000561854.1
exon_skip_1430871623400096:23400407:23403700:23403844:23404553:2340461323403700:23403844ENSG00000168434.8ENST00000307149.5,ENST00000566364.1
exon_skip_1430911623404553:23404668:23409366:23409450:23415014:2341515523409366:23409450ENSG00000168434.8ENST00000307149.5
exon_skip_1430931623417396:23417583:23421615:23421681:23424768:2342488523421615:23421681ENSG00000168434.8ENST00000307149.5,ENST00000567821.1
exon_skip_1430941623421615:23421681:23424768:23424885:23428287:2342844223424768:23424885ENSG00000168434.8ENST00000307149.5,ENST00000567821.1
exon_skip_1430961623424768:23424885:23428287:23428442:23430020:2343014823428287:23428442ENSG00000168434.8ENST00000307149.5
exon_skip_1431001623428287:23428442:23430020:23430148:23436069:2343626823430020:23430148ENSG00000168434.8ENST00000307149.5
exon_skip_1431031623430020:23430148:23436069:23436268:23444865:2344498823436069:23436268ENSG00000168434.8ENST00000307149.5
exon_skip_1431051623436069:23436268:23444865:23444988:23445956:2344603923444865:23444988ENSG00000168434.8ENST00000307149.5
exon_skip_1431071623445956:23446039:23453797:23453966:23456368:2345648523453797:23453966ENSG00000168434.8ENST00000307149.5
exon_skip_1431091623453797:23453966:23456368:23456485:23457133:2345728223456368:23456485ENSG00000168434.8ENST00000307149.5

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for COG7

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1430851623400096:23400407:23403282:23403555:23403700:2340384423403282:23403555ENSG00000168434.8ENST00000561854.1
exon_skip_1430871623400096:23400407:23403700:23403844:23404553:2340461323403700:23403844ENSG00000168434.8ENST00000307149.5,ENST00000566364.1
exon_skip_1430911623404553:23404668:23409366:23409450:23415014:2341515523409366:23409450ENSG00000168434.8ENST00000307149.5
exon_skip_1430931623417396:23417583:23421615:23421681:23424768:2342488523421615:23421681ENSG00000168434.8ENST00000307149.5,ENST00000567821.1
exon_skip_1430941623421615:23421681:23424768:23424885:23428287:2342844223424768:23424885ENSG00000168434.8ENST00000307149.5,ENST00000567821.1
exon_skip_1430961623424768:23424885:23428287:23428442:23430020:2343014823428287:23428442ENSG00000168434.8ENST00000307149.5
exon_skip_1431001623428287:23428442:23430020:23430148:23436069:2343626823430020:23430148ENSG00000168434.8ENST00000307149.5
exon_skip_1431031623430020:23430148:23436069:23436268:23444865:2344498823436069:23436268ENSG00000168434.8ENST00000307149.5
exon_skip_1431051623436069:23436268:23444865:23444988:23445956:2344603923444865:23444988ENSG00000168434.8ENST00000307149.5
exon_skip_1431071623445956:23446039:23453797:23453966:23456368:2345648523453797:23453966ENSG00000168434.8ENST00000307149.5
exon_skip_1431091623453797:23453966:23456368:23456485:23457133:2345728223456368:23456485ENSG00000168434.8ENST00000307149.5

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for COG7

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003071492342828723428442Frame-shift
ENST000003071492343002023430148Frame-shift
ENST000003071492343606923436268Frame-shift
ENST000003071492345379723453966Frame-shift
ENST000003071492340370023403844In-frame
ENST000003071492340936623409450In-frame
ENST000003071492342161523421681In-frame
ENST000003071492342476823424885In-frame
ENST000003071492344486523444988In-frame
ENST000003071492345636823456485In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003071492342828723428442Frame-shift
ENST000003071492343002023430148Frame-shift
ENST000003071492343606923436268Frame-shift
ENST000003071492345379723453966Frame-shift
ENST000003071492340370023403844In-frame
ENST000003071492340936623409450In-frame
ENST000003071492342161523421681In-frame
ENST000003071492342476823424885In-frame
ENST000003071492344486523444988In-frame
ENST000003071492345636823456485In-frame

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Infer the effects of exon skipping event on protein functional features for COG7

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000030714929437702345636823456485505621106145
ENST0000030714929437702344486523444988874996229270
ENST000003071492943770234247682342488514791595431469
ENST000003071492943770234216152342168115961661470491
ENST000003071492943770234093662340945019902073601629
ENST000003071492943770234037002340384421892332667715

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000030714929437702345636823456485505621106145
ENST0000030714929437702344486523444988874996229270
ENST000003071492943770234247682342488514791595431469
ENST000003071492943770234216152342168115961661470491
ENST000003071492943770234093662340945019902073601629
ENST000003071492943770234037002340384421892332667715

check button 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 featureDescription of feature
P834361061451770ChainID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7
P834362292701770ChainID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7
P834364314691770ChainID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7
P834364704911770ChainID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7
P834366016291770ChainID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7
P83436601629605605Natural variantID=VAR_048762;Note=T->M;Dbxref=dbSNP:rs16940094
P834366677151770ChainID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7


check button 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 featureDescription of feature
P834361061451770ChainID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7
P834362292701770ChainID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7
P834364314691770ChainID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7
P834364704911770ChainID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7
P834366016291770ChainID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7
P83436601629605605Natural variantID=VAR_048762;Note=T->M;Dbxref=dbSNP:rs16940094
P834366677151770ChainID=PRO_0000213518;Note=Conserved oligomeric Golgi complex subunit 7


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SNVs in the skipped exons for COG7

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A1EG-01exon_skip_143091
23409367234094502340943423409434Frame_Shift_DelC-p.G607fs
LIHCTCGA-DD-A3A0-01exon_skip_143094
23424769234248852342479823424798Frame_Shift_DelT-p.E460fs
COADTCGA-A6-5657-01exon_skip_143107
23453798234539662345384123453842Frame_Shift_Ins-Ap.L187fs
LIHCTCGA-BC-A10T-01exon_skip_143107
23453798234539662345384123453842Frame_Shift_Ins-Ap.R187fs
LIHCTCGA-BC-A10U-01exon_skip_143107
23453798234539662345384123453842Frame_Shift_Ins-Ap.R187fs
LUADTCGA-55-8089-01exon_skip_143096
23428288234284422342834923428349Nonsense_MutationTAp.R411*
BLCATCGA-ZF-AA4V-01exon_skip_143107
23453798234539662345380723453807Nonsense_MutationGAp.Q199*
UCECTCGA-BS-A0UJ-01exon_skip_143094
23424769234248852342488723424887Splice_SiteTCe10-2
STADTCGA-B7-A5TI-01exon_skip_143107
23453798234539662345396723453967Splice_SiteCA.
UCECTCGA-A5-A0GH-01exon_skip_143107
23453798234539662345396723453967Splice_SiteCAp.D146_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
BICR56_UPPER_AERODIGESTIVE_TRACT23403701234038442340378523403785Missense_MutationCAp.A688S
CAL78_BONE23409367234094502340940123409401Missense_MutationGAp.A618V
CW2_LARGE_INTESTINE23421616234216812342165323421653Missense_MutationGAp.R480W
SKMEL3_SKIN23424769234248852342481823424818Missense_MutationGAp.P454S
SW620_LARGE_INTESTINE23424769234248852342486023424860Missense_MutationGCp.L440V
CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE23428288234284422342832223428322Missense_MutationCTp.G420S
NCIH841_LUNG23428288234284422342832223428322Missense_MutationCTp.G420S
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE23428288234284422342832223428322Missense_MutationCTp.G420S
CW2_LARGE_INTESTINE23430021234301482343003123430031Missense_MutationGAp.A376V
HEC59_ENDOMETRIUM23430021234301482343007323430073Missense_MutationTCp.Y362C
HUT102_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE23430021234301482343012423430124Missense_MutationGAp.T345M
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE23436070234362682343613323436133Missense_MutationCTp.E316K
HCC2108_LUNG23436070234362682343620523436205Missense_MutationGCp.P292A
SNU1033_LARGE_INTESTINE23436070234362682343623823436238Missense_MutationCTp.V281M
SW900_LUNG23444866234449882344493623444936Missense_MutationTAp.D247V
HCT116_LARGE_INTESTINE23453798234539662345382523453825Missense_MutationCTp.V193I
C10_LARGE_INTESTINE23453798234539662345384223453842Missense_MutationAGp.L187P
LOVO_LARGE_INTESTINE23453798234539662345388723453887Missense_MutationTCp.E172G
LS411N_LARGE_INTESTINE23453798234539662345396223453962Missense_MutationAGp.I147T
BT474_BREAST23456369234564852345638623456386Missense_MutationCTp.E140K
MCC26_SKIN23456369234564852345643123456431Missense_MutationGCp.L125V
HCT15_LARGE_INTESTINE23456369234564852345644223456442Missense_MutationGAp.A121V
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE23428288234284422342841523428415Nonsense_MutationGAp.Q389*
HN_UPPER_AERODIGESTIVE_TRACT23421616234216812342168023421680Splice_SiteT-p.I472fs
EFO27_OVARY23444866234449882344486623444866Splice_SiteCAp.Q270H

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for COG7

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA 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

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for COG7

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource