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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:COCH-GOLGA3 (FusionGDB2 ID:17991)

Fusion Gene Summary for COCH-GOLGA3

check button Fusion gene summary
Fusion gene informationFusion gene name: COCH-GOLGA3
Fusion gene ID: 17991
HgeneTgene
Gene symbol

COCH

GOLGA3

Gene ID

1690

2802

Gene namecochlingolgin A3
SynonymsCOCH-5B2|COCH5B2|DFNA9|DFNB110GCP170|MEA-2
Cytomap

14q12

12q24.33

Type of geneprotein-codingprotein-coding
Descriptioncochlincoagulation factor C homolog, cochlin (Limulus polyphemus)golgin subfamily A member 3Golgi membrane associated proteinGolgi peripheral membrane proteinSY2/SY10 proteingolgi autoantigen, golgin subfamily a, 3golgi complex-associated protein of 170 kDagolgin-160golgin-165male enhanced antigen-2
Modification date2020031320200313
UniProtAcc

O43405

Q08378

Ensembl transtripts involved in fusion geneENST00000216361, ENST00000382493, 
ENST00000396618, ENST00000460581, 
ENST00000475087, 		ENST00000204726, 
ENST00000450791, ENST00000456883, 
ENST00000534967, ENST00000537452, 
ENST00000545875, 
Fusion gene scores* DoF score3 X 3 X 1=97 X 15 X 7=735
# samples 315
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(15/735*10)=-2.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COCH [Title/Abstract] AND GOLGA3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOCH(31359292)-GOLGA3(133402654), # samples:2
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 COCH (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across GOLGA3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChiTaRS5.0N/ADV459462COCHchr14

31359292

+GOLGA3chr12

133402654

+
ChiTaRS5.0N/ADV459654COCHchr14

31359292

+GOLGA3chr12

133402654

+


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Fusion Gene ORF analysis for COCH-GOLGA3

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
3UTR-intronENST00000216361ENST00000204726COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000216361ENST00000450791COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000216361ENST00000456883COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000216361ENST00000534967COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000216361ENST00000537452COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000216361ENST00000545875COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000382493ENST00000204726COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000382493ENST00000450791COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000382493ENST00000456883COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000382493ENST00000534967COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000382493ENST00000537452COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000382493ENST00000545875COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000396618ENST00000204726COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000396618ENST00000450791COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000396618ENST00000456883COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000396618ENST00000534967COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000396618ENST00000537452COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000396618ENST00000545875COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000460581ENST00000204726COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000460581ENST00000450791COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000460581ENST00000456883COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000460581ENST00000534967COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000460581ENST00000537452COCHchr14

31359292

+GOLGA3chr12

133402654

+
3UTR-intronENST00000460581ENST00000545875COCHchr14

31359292

+GOLGA3chr12

133402654

+
intron-intronENST00000475087ENST00000204726COCHchr14

31359292

+GOLGA3chr12

133402654

+
intron-intronENST00000475087ENST00000450791COCHchr14

31359292

+GOLGA3chr12

133402654

+
intron-intronENST00000475087ENST00000456883COCHchr14

31359292

+GOLGA3chr12

133402654

+
intron-intronENST00000475087ENST00000534967COCHchr14

31359292

+GOLGA3chr12

133402654

+
intron-intronENST00000475087ENST00000537452COCHchr14

31359292

+GOLGA3chr12

133402654

+
intron-intronENST00000475087ENST00000545875COCHchr14

31359292

+GOLGA3chr12

133402654

+

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)

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

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Fusion Genomic Features for COCH-GOLGA3


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.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for COCH-GOLGA3


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/:31359292/:133402654)
- 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
COCH

O43405

GOLGA3

Q08378

FUNCTION: Plays a role in the control of cell shape and motility in the trabecular meshwork. {ECO:0000269|PubMed:21886777}.FUNCTION: Golgi auto-antigen; probably involved in maintaining Golgi structure.

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 COCH-GOLGA3


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.

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Fusion Gene PPI Analysis for COCH-GOLGA3


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 COCH-GOLGA3


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 COCH-GOLGA3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource