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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:CTBP2-ADAM12 (FusionGDB2 ID:20045)

Fusion Gene Summary for CTBP2-ADAM12

check button Fusion gene summary
Fusion gene informationFusion gene name: CTBP2-ADAM12
Fusion gene ID: 20045
HgeneTgene
Gene symbol

CTBP2

ADAM12

Gene ID

1488

8038

Gene nameC-terminal binding protein 2ADAM metallopeptidase domain 12
Synonyms-ADAM12-OT1|CAR10|MCMP|MCMPMltna|MLTN|MLTNA
Cytomap

10q26.13

10q26.2

Type of geneprotein-codingprotein-coding
DescriptionC-terminal-binding protein 2ribeyedisintegrin and metalloproteinase domain-containing protein 12meltrin-alphametalloprotease-disintegrin 12 transmembrane
Modification date2020031320200313
UniProtAcc.

O43184

Ensembl transtripts involved in fusion geneENST00000337195, ENST00000411419, 
ENST00000531469, ENST00000309035, 
ENST00000334808, ENST00000476817, 
ENST00000494626, 
ENST00000368676, 
ENST00000368679, ENST00000467145, 
Fusion gene scores* DoF score20 X 14 X 8=224014 X 15 X 4=840
# samples 2517
** MAII scorelog2(25/2240*10)=-3.16349873228288
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/840*10)=-2.30485458152842
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CTBP2 [Title/Abstract] AND ADAM12 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCTBP2(126799559)-ADAM12(128019078), # samples:3
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 CTBP2 (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 ADAM12 (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
ChimerDB4BRCATCGA-A8-A08L-01ACTBP2chr10

126799559

-ADAM12chr10

128019078

-
ChimerDB4BRCATCGA-A8-A08LCTBP2chr10

126799558

-ADAM12chr10

128019078

-


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Fusion Gene ORF analysis for CTBP2-ADAM12

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
5UTR-3CDSENST00000337195ENST00000368676CTBP2chr10

126799559

-ADAM12chr10

128019078

-
5UTR-3CDSENST00000337195ENST00000368676CTBP2chr10

126799558

-ADAM12chr10

128019078

-
5UTR-3CDSENST00000337195ENST00000368679CTBP2chr10

126799559

-ADAM12chr10

128019078

-
5UTR-3CDSENST00000337195ENST00000368679CTBP2chr10

126799558

-ADAM12chr10

128019078

-
5UTR-3CDSENST00000411419ENST00000368676CTBP2chr10

126799559

-ADAM12chr10

128019078

-
5UTR-3CDSENST00000411419ENST00000368676CTBP2chr10

126799558

-ADAM12chr10

128019078

-
5UTR-3CDSENST00000411419ENST00000368679CTBP2chr10

126799559

-ADAM12chr10

128019078

-
5UTR-3CDSENST00000411419ENST00000368679CTBP2chr10

126799558

-ADAM12chr10

128019078

-
5UTR-3CDSENST00000531469ENST00000368676CTBP2chr10

126799559

-ADAM12chr10

128019078

-
5UTR-3CDSENST00000531469ENST00000368676CTBP2chr10

126799558

-ADAM12chr10

128019078

-
5UTR-3CDSENST00000531469ENST00000368679CTBP2chr10

126799559

-ADAM12chr10

128019078

-
5UTR-3CDSENST00000531469ENST00000368679CTBP2chr10

126799558

-ADAM12chr10

128019078

-
5UTR-intronENST00000337195ENST00000467145CTBP2chr10

126799559

-ADAM12chr10

128019078

-
5UTR-intronENST00000337195ENST00000467145CTBP2chr10

126799558

-ADAM12chr10

128019078

-
5UTR-intronENST00000411419ENST00000467145CTBP2chr10

126799559

-ADAM12chr10

128019078

-
5UTR-intronENST00000411419ENST00000467145CTBP2chr10

126799558

-ADAM12chr10

128019078

-
5UTR-intronENST00000531469ENST00000467145CTBP2chr10

126799559

-ADAM12chr10

128019078

-
5UTR-intronENST00000531469ENST00000467145CTBP2chr10

126799558

-ADAM12chr10

128019078

-
intron-3CDSENST00000309035ENST00000368676CTBP2chr10

126799559

-ADAM12chr10

128019078

-
intron-3CDSENST00000309035ENST00000368676CTBP2chr10

126799558

-ADAM12chr10

128019078

-
intron-3CDSENST00000309035ENST00000368679CTBP2chr10

126799559

-ADAM12chr10

128019078

-
intron-3CDSENST00000309035ENST00000368679CTBP2chr10

126799558

-ADAM12chr10

128019078

-
intron-3CDSENST00000334808ENST00000368676CTBP2chr10

126799559

-ADAM12chr10

128019078

-
intron-3CDSENST00000334808ENST00000368676CTBP2chr10

126799558

-ADAM12chr10

128019078

-
intron-3CDSENST00000334808ENST00000368679CTBP2chr10

126799559

-ADAM12chr10

128019078

-
intron-3CDSENST00000334808ENST00000368679CTBP2chr10

126799558

-ADAM12chr10

128019078

-
intron-3CDSENST00000476817ENST00000368676CTBP2chr10

126799559

-ADAM12chr10

128019078

-
intron-3CDSENST00000476817ENST00000368676CTBP2chr10

126799558

-ADAM12chr10

128019078

-
intron-3CDSENST00000476817ENST00000368679CTBP2chr10

126799559

-ADAM12chr10

128019078

-
intron-3CDSENST00000476817ENST00000368679CTBP2chr10

126799558

-ADAM12chr10

128019078

-
intron-3CDSENST00000494626ENST00000368676CTBP2chr10

126799559

-ADAM12chr10

128019078

-
intron-3CDSENST00000494626ENST00000368676CTBP2chr10

126799558

-ADAM12chr10

128019078

-
intron-3CDSENST00000494626ENST00000368679CTBP2chr10

126799559

-ADAM12chr10

128019078

-
intron-3CDSENST00000494626ENST00000368679CTBP2chr10

126799558

-ADAM12chr10

128019078

-
intron-intronENST00000309035ENST00000467145CTBP2chr10

126799559

-ADAM12chr10

128019078

-
intron-intronENST00000309035ENST00000467145CTBP2chr10

126799558

-ADAM12chr10

128019078

-
intron-intronENST00000334808ENST00000467145CTBP2chr10

126799559

-ADAM12chr10

128019078

-
intron-intronENST00000334808ENST00000467145CTBP2chr10

126799558

-ADAM12chr10

128019078

-
intron-intronENST00000476817ENST00000467145CTBP2chr10

126799559

-ADAM12chr10

128019078

-
intron-intronENST00000476817ENST00000467145CTBP2chr10

126799558

-ADAM12chr10

128019078

-
intron-intronENST00000494626ENST00000467145CTBP2chr10

126799559

-ADAM12chr10

128019078

-
intron-intronENST00000494626ENST00000467145CTBP2chr10

126799558

-ADAM12chr10

128019078

-

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 CTBP2-ADAM12


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 CTBP2-ADAM12


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/:126799559/:128019078)
- 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
.ADAM12

O43184

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: Involved in skeletal muscle regeneration, specifically at the onset of cell fusion. Also involved in macrophage-derived giant cells (MGC) and osteoclast formation from mononuclear precursors (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 CTBP2-ADAM12


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 CTBP2-ADAM12


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 CTBP2-ADAM12


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 CTBP2-ADAM12


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