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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:C1QTNF1-MAGED4 (FusionGDB2 ID:11430)

Fusion Gene Summary for C1QTNF1-MAGED4

check button Fusion gene summary
Fusion gene informationFusion gene name: C1QTNF1-MAGED4
Fusion gene ID: 11430
HgeneTgene
Gene symbol

C1QTNF1

MAGED4

Gene ID

114897

728239

Gene nameC1q and TNF related 1MAGE family member D4
SynonymsCTRP1|GIP|ZSIG37MAGE-D4|MAGE-E1|MAGE1|MAGEE1
Cytomap

17q25.3

Xp11.22

Type of geneprotein-codingprotein-coding
Descriptioncomplement C1q tumor necrosis factor-related protein 1C1q and tumor necrosis factor related protein 1G protein coupled receptor interacting proteing protein-coupled receptor-interacting proteinmelanoma-associated antigen D4MAGE-D4 antigenMAGE-E1 antigenmelanoma antigen family D, 4melanoma antigen family D4
Modification date2020031320200320
UniProtAcc

Q9BXJ1

Q96JG8

Ensembl transtripts involved in fusion geneENST00000311661, ENST00000339142, 
ENST00000392445, ENST00000354124, 
ENST00000578229, ENST00000579760, 
ENST00000580454, ENST00000580474, 
ENST00000581774, ENST00000582625, 
ENST00000583904, 
ENST00000375626, 
ENST00000416960, ENST00000479281, 
Fusion gene scores* DoF score4 X 4 X 1=161 X 1 X 1=1
# samples 41
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: C1QTNF1 [Title/Abstract] AND MAGED4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC1QTNF1(77045622)-MAGED4(51929160), # 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
HgeneC1QTNF1

GO:0007204

positive regulation of cytosolic calcium ion concentration

18171693

HgeneC1QTNF1

GO:0010544

negative regulation of platelet activation

16195328

HgeneC1QTNF1

GO:0010628

positive regulation of gene expression

18171693

HgeneC1QTNF1

GO:0090331

negative regulation of platelet aggregation

16195328

HgeneC1QTNF1

GO:2000860

positive regulation of aldosterone secretion

18171693


check buttonFusion gene breakpoints across C1QTNF1 (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 MAGED4 (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/ACA432009C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-


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Fusion Gene ORF analysis for C1QTNF1-MAGED4

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-3CDSENST00000311661ENST00000375626C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
3UTR-3CDSENST00000311661ENST00000416960C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
3UTR-3CDSENST00000339142ENST00000375626C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
3UTR-3CDSENST00000339142ENST00000416960C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
3UTR-3CDSENST00000392445ENST00000375626C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
3UTR-3CDSENST00000392445ENST00000416960C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
3UTR-intronENST00000311661ENST00000479281C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
3UTR-intronENST00000339142ENST00000479281C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
3UTR-intronENST00000392445ENST00000479281C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-3CDSENST00000354124ENST00000375626C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-3CDSENST00000354124ENST00000416960C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-3CDSENST00000578229ENST00000375626C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-3CDSENST00000578229ENST00000416960C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-3CDSENST00000579760ENST00000375626C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-3CDSENST00000579760ENST00000416960C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-3CDSENST00000580454ENST00000375626C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-3CDSENST00000580454ENST00000416960C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-3CDSENST00000580474ENST00000375626C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-3CDSENST00000580474ENST00000416960C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-3CDSENST00000581774ENST00000375626C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-3CDSENST00000581774ENST00000416960C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-3CDSENST00000582625ENST00000375626C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-3CDSENST00000582625ENST00000416960C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-3CDSENST00000583904ENST00000375626C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-3CDSENST00000583904ENST00000416960C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-intronENST00000354124ENST00000479281C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-intronENST00000578229ENST00000479281C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-intronENST00000579760ENST00000479281C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-intronENST00000580454ENST00000479281C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-intronENST00000580474ENST00000479281C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-intronENST00000581774ENST00000479281C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-intronENST00000582625ENST00000479281C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-
intron-intronENST00000583904ENST00000479281C1QTNF1chr17

77045622

-MAGED4chrX

51929160

-

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 C1QTNF1-MAGED4


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 C1QTNF1-MAGED4


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/:77045622/:51929160)
- 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
C1QTNF1

Q9BXJ1

MAGED4

Q96JG8

FUNCTION: May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. {ECO:0000269|PubMed:20864041}.

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 C1QTNF1-MAGED4


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 C1QTNF1-MAGED4


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 C1QTNF1-MAGED4


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 C1QTNF1-MAGED4


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