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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:BMP7-CD99 (FusionGDB2 ID:HG655TG4267)

Fusion Gene Summary for BMP7-CD99

check button Fusion gene summary
Fusion gene informationFusion gene name: BMP7-CD99
Fusion gene ID: hg655tg4267
HgeneTgene
Gene symbol

BMP7

CD99

Gene ID

655

4267

Gene namebone morphogenetic protein 7CD99 molecule (Xg blood group)
SynonymsOP-1HBA71|MIC2|MIC2X|MIC2Y|MSK5X
Cytomap('BMP7')('CD99')

20q13.31

Xp22.33 and Yp11.2

Type of geneprotein-codingprotein-coding
Descriptionbone morphogenetic protein 7osteogenic protein 1CD99 antigenE2 antigenMIC2 (monoclonal antibody 12E7)T-cell surface glycoprotein E2antigen identified by monoclonal 12E7, Y homologantigen identified by monoclonal antibodies 12E7, F21 and O13cell surface antigen 12E7cell surface antigen HBA-71cel
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000395863, ENST00000395864, 
ENST00000450594, ENST00000460817, 
Fusion gene scores* DoF score11 X 10 X 6=66027 X 20 X 5=2700
# samples 1329
** MAII scorelog2(13/660*10)=-2.34395440121736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(29/2700*10)=-3.21883460192326
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BMP7 [Title/Abstract] AND CD99 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBMP7(55840760)-CD99(2587701), # 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
HgeneBMP7

GO:0010628

positive regulation of gene expression

28124060

HgeneBMP7

GO:0010800

positive regulation of peptidyl-threonine phosphorylation

19736306

HgeneBMP7

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

9311995|16049014|17244894|19736306

HgeneBMP7

GO:0030501

positive regulation of bone mineralization

18436533

HgeneBMP7

GO:0030509

BMP signaling pathway

16049014|18436533

HgeneBMP7

GO:0034116

positive regulation of heterotypic cell-cell adhesion

15100360

HgeneBMP7

GO:0034504

protein localization to nucleus

17244894

HgeneBMP7

GO:0042326

negative regulation of phosphorylation

17244894

HgeneBMP7

GO:0043407

negative regulation of MAP kinase activity

17244894

HgeneBMP7

GO:0045665

negative regulation of neuron differentiation

16325379

HgeneBMP7

GO:0045669

positive regulation of osteoblast differentiation

18436533

HgeneBMP7

GO:0045786

negative regulation of cell cycle

11502704

HgeneBMP7

GO:0045839

negative regulation of mitotic nuclear division

17244894

HgeneBMP7

GO:0045892

negative regulation of transcription, DNA-templated

15100360|17244894

HgeneBMP7

GO:0045893

positive regulation of transcription, DNA-templated

14517293|15100360|16049014

HgeneBMP7

GO:0048762

mesenchymal cell differentiation

9693150

HgeneBMP7

GO:0048812

neuron projection morphogenesis

16325379

HgeneBMP7

GO:0060393

regulation of pathway-restricted SMAD protein phosphorylation

16049014

HgeneBMP7

GO:0060395

SMAD protein signal transduction

17244894

HgeneBMP7

GO:0060548

negative regulation of cell death

12631064

HgeneBMP7

GO:0070487

monocyte aggregation

15100360

HgeneBMP7

GO:0072125

negative regulation of glomerular mesangial cell proliferation

17244894

HgeneBMP7

GO:1900006

positive regulation of dendrite development

11580864

HgeneBMP7

GO:1900106

positive regulation of hyaluranon cable assembly

15100360



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
ChimerDB4ESCATCGA-LN-A4A4BMP7chr20

55840760

-CD99chrY

2587701

+


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Fusion Gene ORF analysis for BMP7-CD99

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-3UTRENST00000395863ENST00000482405BMP7chr20

55840760

-CD99chrY

2587701

+
5CDS-3UTRENST00000395864ENST00000482405BMP7chr20

55840760

-CD99chrY

2587701

+
5CDS-3UTRENST00000450594ENST00000482405BMP7chr20

55840760

-CD99chrY

2587701

+
5CDS-intronENST00000395863ENST00000381180BMP7chr20

55840760

-CD99chrY

2587701

+
5CDS-intronENST00000395864ENST00000381180BMP7chr20

55840760

-CD99chrY

2587701

+
5CDS-intronENST00000450594ENST00000381180BMP7chr20

55840760

-CD99chrY

2587701

+
Frame-shiftENST00000395863ENST00000381184BMP7chr20

55840760

-CD99chrY

2587701

+
Frame-shiftENST00000395863ENST00000381187BMP7chr20

55840760

-CD99chrY

2587701

+
Frame-shiftENST00000395863ENST00000381192BMP7chr20

55840760

-CD99chrY

2587701

+
Frame-shiftENST00000395864ENST00000381184BMP7chr20

55840760

-CD99chrY

2587701

+
Frame-shiftENST00000395864ENST00000381187BMP7chr20

55840760

-CD99chrY

2587701

+
Frame-shiftENST00000395864ENST00000381192BMP7chr20

55840760

-CD99chrY

2587701

+
Frame-shiftENST00000450594ENST00000381184BMP7chr20

55840760

-CD99chrY

2587701

+
Frame-shiftENST00000450594ENST00000381187BMP7chr20

55840760

-CD99chrY

2587701

+
Frame-shiftENST00000450594ENST00000381192BMP7chr20

55840760

-CD99chrY

2587701

+
intron-3CDSENST00000460817ENST00000381184BMP7chr20

55840760

-CD99chrY

2587701

+
intron-3CDSENST00000460817ENST00000381187BMP7chr20

55840760

-CD99chrY

2587701

+
intron-3CDSENST00000460817ENST00000381192BMP7chr20

55840760

-CD99chrY

2587701

+
intron-3UTRENST00000460817ENST00000482405BMP7chr20

55840760

-CD99chrY

2587701

+
intron-intronENST00000460817ENST00000381180BMP7chr20

55840760

-CD99chrY

2587701

+

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 BMP7-CD99


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)
BMP7chr2055840760-CD99chrY2587701+2.09E-081
BMP7chr2055840760-CD99chrY2587701+2.09E-081


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.
genomic feature of top 1%

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Fusion Protein Features for BMP7-CD99


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/:55840760/:2587701)
- 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 BMP7-CD99


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 BMP7-CD99


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 BMP7-CD99


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 BMP7-CD99


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBMP7C0033578Prostatic Neoplasms2CTD_human
HgeneBMP7C0376358Malignant neoplasm of prostate2CTD_human
HgeneBMP7C0005974Bone Resorption1CTD_human
HgeneBMP7C0014175Endometriosis1CTD_human
HgeneBMP7C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneBMP7C0024623Malignant neoplasm of stomach1CTD_human
HgeneBMP7C0034069Pulmonary Fibrosis1CTD_human
HgeneBMP7C0038356Stomach Neoplasms1CTD_human
HgeneBMP7C0041696Unipolar Depression1PSYGENET
HgeneBMP7C0269102Endometrioma1CTD_human
HgeneBMP7C1269683Major Depressive Disorder1PSYGENET
HgeneBMP7C1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneBMP7C1968949Cakut1GENOMICS_ENGLAND
HgeneBMP7C4721507Alveolitis, Fibrosing1CTD_human
TgeneC0206637Mesenchymal Chondrosarcoma1CTD_human