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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-MACROD2 (FusionGDB2 ID:9883)

Fusion Gene Summary for BMP7-MACROD2

check button Fusion gene summary
Fusion gene informationFusion gene name: BMP7-MACROD2
Fusion gene ID: 9883
HgeneTgene
Gene symbol

BMP7

MACROD2

Gene ID

655

140733

Gene namebone morphogenetic protein 7mono-ADP ribosylhydrolase 2
SynonymsOP-1C20orf133|C2orf133
Cytomap

20q13.31

20p12.1

Type of geneprotein-codingprotein-coding
Descriptionbone morphogenetic protein 7osteogenic protein 1ADP-ribose glycohydrolase MACROD2MACRO domain containing 2MACRO domain-containing protein 2O-acetyl-ADP-ribose deacetylase MACROD2[Protein ADP-ribosylaspartate] hydrolase MACROD2[Protein ADP-ribosylglutamate] hydrolase[Protein ADP-ribosylglutamate]
Modification date2020032720200313
UniProtAcc

P18075

A1Z1Q3

Ensembl transtripts involved in fusion geneENST00000395863, ENST00000395864, 
ENST00000450594, ENST00000460817, 
ENST00000402914, ENST00000378058, 
ENST00000407045, ENST00000464883, 
ENST00000217246, ENST00000310348, 
Fusion gene scores* DoF score11 X 10 X 6=66037 X 34 X 11=13838
# samples 1341
** MAII scorelog2(13/660*10)=-2.34395440121736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(41/13838*10)=-5.07686772601114
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BMP7 [Title/Abstract] AND MACROD2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBMP7(55777531)-MACROD2(15412050), # 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
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

TgeneMACROD2

GO:0042278

purine nucleoside metabolic process

21257746

TgeneMACROD2

GO:0051725

protein de-ADP-ribosylation

23474712


check buttonFusion gene breakpoints across BMP7 (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 MACROD2 (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
ChimerDB4BLCATCGA-GU-A42Q-01ABMP7chr20

55777531

-MACROD2chr20

15412050

+


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Fusion Gene ORF analysis for BMP7-MACROD2

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-5UTRENST00000395863ENST00000402914BMP7chr20

55777531

-MACROD2chr20

15412050

+
5CDS-5UTRENST00000395864ENST00000402914BMP7chr20

55777531

-MACROD2chr20

15412050

+
5CDS-5UTRENST00000450594ENST00000402914BMP7chr20

55777531

-MACROD2chr20

15412050

+
5CDS-intronENST00000395863ENST00000378058BMP7chr20

55777531

-MACROD2chr20

15412050

+
5CDS-intronENST00000395863ENST00000407045BMP7chr20

55777531

-MACROD2chr20

15412050

+
5CDS-intronENST00000395863ENST00000464883BMP7chr20

55777531

-MACROD2chr20

15412050

+
5CDS-intronENST00000395864ENST00000378058BMP7chr20

55777531

-MACROD2chr20

15412050

+
5CDS-intronENST00000395864ENST00000407045BMP7chr20

55777531

-MACROD2chr20

15412050

+
5CDS-intronENST00000395864ENST00000464883BMP7chr20

55777531

-MACROD2chr20

15412050

+
5CDS-intronENST00000450594ENST00000378058BMP7chr20

55777531

-MACROD2chr20

15412050

+
5CDS-intronENST00000450594ENST00000407045BMP7chr20

55777531

-MACROD2chr20

15412050

+
5CDS-intronENST00000450594ENST00000464883BMP7chr20

55777531

-MACROD2chr20

15412050

+
5UTR-3CDSENST00000460817ENST00000217246BMP7chr20

55777531

-MACROD2chr20

15412050

+
5UTR-3CDSENST00000460817ENST00000310348BMP7chr20

55777531

-MACROD2chr20

15412050

+
5UTR-5UTRENST00000460817ENST00000402914BMP7chr20

55777531

-MACROD2chr20

15412050

+
5UTR-intronENST00000460817ENST00000378058BMP7chr20

55777531

-MACROD2chr20

15412050

+
5UTR-intronENST00000460817ENST00000407045BMP7chr20

55777531

-MACROD2chr20

15412050

+
5UTR-intronENST00000460817ENST00000464883BMP7chr20

55777531

-MACROD2chr20

15412050

+
Frame-shiftENST00000395863ENST00000217246BMP7chr20

55777531

-MACROD2chr20

15412050

+
Frame-shiftENST00000395863ENST00000310348BMP7chr20

55777531

-MACROD2chr20

15412050

+
Frame-shiftENST00000395864ENST00000217246BMP7chr20

55777531

-MACROD2chr20

15412050

+
Frame-shiftENST00000395864ENST00000310348BMP7chr20

55777531

-MACROD2chr20

15412050

+
Frame-shiftENST00000450594ENST00000217246BMP7chr20

55777531

-MACROD2chr20

15412050

+
Frame-shiftENST00000450594ENST00000310348BMP7chr20

55777531

-MACROD2chr20

15412050

+

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-MACROD2


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)
BMP7chr2055777530-MACROD2chr2015412049+0.0052209010.9947791
BMP7chr2055777530-MACROD2chr2015412049+0.0052209010.9947791

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.
genomic feature of top 1%

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Fusion Protein Features for BMP7-MACROD2


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/:55777531/:15412050)
- 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
BMP7

P18075

MACROD2

A1Z1Q3

FUNCTION: Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis. Promotes brown adipocyte differentiation by P38 MAPK pathway-mediated activation of target genes, including members of the SOX family of transcription factors (PubMed:27923061). {ECO:0000269|PubMed:27923061}.FUNCTION: Removes ADP-ribose from asparatate and glutamate residues in proteins bearing a single ADP-ribose moiety (PubMed:23474714, PubMed:23474712). Inactive towards proteins bearing poly-ADP-ribose (PubMed:23474714, PubMed:23474712). Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins (PubMed:21257746). {ECO:0000269|PubMed:21257746, ECO:0000269|PubMed:23474712, ECO:0000269|PubMed:23474714}.

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-MACROD2


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-MACROD2


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-MACROD2


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-MACROD2


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