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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ATP6C-COG7 (FusionGDB2 ID:HG528TG91949)

Fusion Gene Summary for ATP6C-COG7

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6C-COG7
Fusion gene ID: hg528tg91949
HgeneTgene
Gene symbol

ATP6C

COG7

Gene ID

528

91949

Gene nameATPase H+ transporting V1 subunit C1component of oligomeric golgi complex 7
SynonymsATP6C|ATP6D|VATC|Vma5CDG2E
Cytomap('ATP6C')('COG7')

8q22.3

16p12.2

Type of geneprotein-codingprotein-coding
DescriptionV-type proton ATPase subunit C 1ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1H(+)-transporting two-sector ATPase, subunit CH+ -ATPase C subunitH+-transporting ATPase chain C, vacuolarV-ATPase C subunitV-ATPase subunit C 1subunit C of vacuconserved oligomeric Golgi complex subunit 7COG complex subunit 7
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000569317, 
Fusion gene scores* DoF score2 X 2 X 2=88 X 6 X 5=240
# samples 27
** MAII scorelog2(2/8*10)=1.32192809488736log2(7/240*10)=-1.77760757866355
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP6C [Title/Abstract] AND COG7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP6C(2571124)-COG7(23409450), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

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

check buttonFusion gene breakpoints across ATP6C (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across COG7 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4OVTCGA-61-2111-01AATP6Cchr16

2571124

+COG7chr16

23409450

-


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Fusion Gene ORF analysis for ATP6C-COG7

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000569317ENST00000569635ATP6Cchr16

2571124

+COG7chr16

23409450

-
In-frameENST00000569317ENST00000307149ATP6Cchr16

2571124

+COG7chr16

23409450

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000569317ATP6Cchr162571124+ENST00000307149COG7chr1623409450-129535819867282

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000569317ENST00000307149ATP6Cchr162571124+COG7chr1623409450-0.00992750.9900725

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Fusion Genomic Features for ATP6C-COG7


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for ATP6C-COG7


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr16:2571124/chr16:23409450)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for ATP6C-COG7


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>8076_8076_1_ATP6C-COG7_ATP6C_chr16_2571124_ENST00000569317_COG7_chr16_23409450_ENST00000307149_length(transcript)=1295nt_BP=358nt
GGTATTTAGAGCGCAGCGGCTGACGGGCCGGATCGCCTTCGCCGCCGCCCGCCCGCAAACCTTCGTGCCCGGCCCGTCCTCGCCCCCGCC
TCCGCCACCGCCTCGGCCCGCAGAGCTTGCCCCCTCCCCACCCGCAGACATGTCCGAGTCCAAGAGCGGCCCCGAGTATGCTTCGTTTTT
CGCCGTCATGGGCGCCTCGGCCGCCATGGTCTTCAGCGGTGGATTTGGTGTTGACTTCTCTCAAGCCACGGAGGACGTGGGTTCGGGGGT
TGCCCTCGTGGCCCGGAGGATCCTGTCGCACGGCGTCACCTCCTTCTGCCCCACCCTGGTCACTTCCCCACCGGAGGTTTATCACAAGAG
CTGGAATACGGCTGGCATCGGAGAAACCCTCACAGATGAACTGCCCGCCTTTAGTCTCACCCCTCTCGAGTACATCAGCAACATCGGGCA
GTACATCATGTCCCTCCCCCTGAATCTTGAGCCATTTGTGACTCAGGAGGACTCTGCCTTAGAGTTGGCATTGCACGCTGGAAAGCTGCC
ATTTCCTCCTGAGCAGGGGGATGAATTGCCCGAGCTGGACAACATGGCTGACAACTGGCTGGGCTCGATCGCCAGAGCCACAATGCAGAC
CTACTGTGATGCGATCCTACAGATCCCTGAGCTGAGCCCACACTCTGCCAAGCAGCTGGCCACTGACATCGACTATCTGATCAACGTGAT
GGATGCCCTGGGCCTGCAGCCGTCCCGCACCCTCCAGCACATCGTGACGCTACTGAAGACCAGGCCTGAGGACTATAGACAGGTCAGCAA
AGGCCTGCCCCGTCGCCTGGCCACCACCGTGGCCACCATGCGGAGTGTGAATTACTGACCCCACCACACACCGGACCACCAAGAGAGCCA
GGGCTGCTGTTTCGCGACTCACCAGCACAGATTTGCTCAGAAACTCTGCCCAAGATTGGGCAGAAGTTACTTTAAAAAGACTTGGTTCAG
CTGGTCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCAGATGGATCATGAAGCCAGGAGTTCGAGACCAGCCTGAC
CAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACAGCAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGACTTGG
TTCATTTGTATAATCAAAAAGAGTTGTAAATTAAAGATGTATTATTTATCAGAGAAGACTTTTTAGATAATTTTTTTAAAGGATCAGATC

>8076_8076_1_ATP6C-COG7_ATP6C_chr16_2571124_ENST00000569317_COG7_chr16_23409450_ENST00000307149_length(amino acids)=282AA_BP=113
MTGRIAFAAARPQTFVPGPSSPPPPPPPRPAELAPSPPADMSESKSGPEYASFFAVMGASAAMVFSGGFGVDFSQATEDVGSGVALVARR
ILSHGVTSFCPTLVTSPPEVYHKSWNTAGIGETLTDELPAFSLTPLEYISNIGQYIMSLPLNLEPFVTQEDSALELALHAGKLPFPPEQG
DELPELDNMADNWLGSIARATMQTYCDAILQIPELSPHSAKQLATDIDYLINVMDALGLQPSRTLQHIVTLLKTRPEDYRQVSKGLPRRL

--------------------------------------------------------------

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Fusion Gene PPI Analysis for ATP6C-COG7


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for ATP6C-COG7


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ATP6C-COG7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC2931010Congenital disorder of glycosylation type 2E4CTD_human;GENOMICS_ENGLAND