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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:A2M-PZP (FusionGDB2 ID:153)

Fusion Gene Summary for A2M-PZP

check button Fusion gene summary
Fusion gene informationFusion gene name: A2M-PZP
Fusion gene ID: 153
HgeneTgene
Gene symbol

A2M

PZP

Gene ID

2

5858

Gene namealpha-2-macroglobulinPZP alpha-2-macroglobulin like
SynonymsA2MD|CPAMD5|FWP007|S863-7CPAMD6
Cytomap

12p13.31

12p13.31

Type of geneprotein-codingprotein-coding
Descriptionalpha-2-macroglobulinC3 and PZP-like alpha-2-macroglobulin domain-containing protein 5alpha-2-Mpregnancy zone proteinC3 and PZP-like alpha-2-macroglobulin domain-containing protein 6Pregnancy zone proteinpregnancy-zone protein
Modification date2020032820200313
UniProtAcc

P01023

.
Ensembl transtripts involved in fusion geneENST00000318602, ENST00000542567, 
ENST00000261336, ENST00000381997, 
ENST00000539983, 
Fusion gene scores* DoF score15 X 18 X 6=16203 X 7 X 3=63
# samples 207
** MAII scorelog2(20/1620*10)=-3.01792190799726
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/63*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: A2M [Title/Abstract] AND PZP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointA2M(9230305)-PZP(9311059), # samples:22
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
HgeneA2M

GO:0001869

negative regulation of complement activation, lectin pathway

12538697


check buttonFusion gene breakpoints across A2M (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 PZP (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
ChimerDB4Non-CancerTCGA-BT-A20R-11AA2Mchr12

9230311

-PZPchr12

9311065

-
ChimerDB4Non-CancerTCGA-BT-A20W-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-BH-A1FU-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-BH-A1EU-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-CZ-5984-11AA2Mchr12

9230311

-PZPchr12

9311065

-
ChimerDB4Non-CancerTCGA-CJ-5676-11AA2Mchr12

9230311

-PZPchr12

9311065

-
ChimerDB4Non-CancerTCGA-CJ-5676-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-CZ-5454-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-CW-5591-11AA2Mchr12

9230311

-PZPchr12

9311065

-
ChimerDB4Non-CancerTCGA-CW-5591-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-B0-5691-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-B0-5697-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-B0-5696-11AA2Mchr12

9230311

-PZPchr12

9311065

-
ChimerDB4Non-CancerTCGA-B0-5701-11AA2Mchr12

9230311

-PZPchr12

9311065

-
ChimerDB4Non-CancerTCGA-CW-5584-11AA2Mchr12

9230311

-PZPchr12

9311065

-
ChimerDB4Non-CancerTCGA-CW-5584-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-EP-A3RK-11AA2Mchr12

9230311

-PZPchr12

9311065

-
ChimerDB4Non-CancerTCGA-EP-A3RK-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-DD-A39Z-11AA2Mchr12

9230311

-PZPchr12

9311065

-
ChimerDB4Non-CancerTCGA-DD-A39Z-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-DD-A3A5-11AA2Mchr12

9230312

-PZPchr12

9311066

-
ChimerDB4Non-CancerTCGA-EP-A26S-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-EP-A26S-11AA2Mchr12

9230311

-PZPchr12

9311065

-
ChimerDB4Non-CancerTCGA-DD-A3A2-11AA2Mchr12

9230311

-PZPchr12

9311065

-
ChimerDB4Non-CancerTCGA-DD-A114-11AA2Mchr12

9230311

-PZPchr12

9311065

-
ChimerDB4Non-CancerTCGA-DD-A114-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-DD-A39V-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-FV-A23B-11AA2Mchr12

9230311

-PZPchr12

9311065

-
ChimerDB4Non-CancerTCGA-DD-A1EL-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-BC-A10R-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-BC-A10R-11AA2Mchr12

9230297

-PZPchr12

9310437

-
ChimerDB4Non-CancerTCGA-ES-A2HT-11AA2Mchr12

9230311

-PZPchr12

9311065

-
ChimerDB4Non-CancerTCGA-ES-A2HT-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-FV-A2QR-11AA2Mchr12

9243797

-PZPchr12

9315244

-
ChimerDB4Non-CancerTCGA-DD-A1EE-11AA2Mchr12

9230311

-PZPchr12

9311065

-
ChimerDB4Non-CancerTCGA-44-2657-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-55-6971-11AA2Mchr12

9230311

-PZPchr12

9311065

-
ChimerDB4Non-CancerTCGA-44-2655-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-55-6984-11AA2Mchr12

9230311

-PZPchr12

9311065

-
ChimerDB4Non-CancerTCGA-38-4627-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-44-2665-11AA2Mchr12

9230311

-PZPchr12

9311065

-
ChimerDB4Non-CancerTCGA-44-2665-11AA2Mchr12

9230305

-PZPchr12

9311059

-
ChimerDB4Non-CancerTCGA-44-3396-11AA2Mchr12

9230311

-PZPchr12

9311065

-
ChimerDB4Non-CancerTCGA-44-3396-11AA2Mchr12

9230305

-PZPchr12

9311059

-


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Fusion Gene ORF analysis for A2M-PZP

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
intron-3CDSENST00000318602ENST00000261336A2Mchr12

9230311

-PZPchr12

9311065

-
intron-3CDSENST00000318602ENST00000381997A2Mchr12

9230311

-PZPchr12

9311065

-
intron-intronENST00000318602ENST00000539983A2Mchr12

9230311

-PZPchr12

9311065

-
intron-3CDSENST00000542567ENST00000261336A2Mchr12

9230311

-PZPchr12

9311065

-
intron-3CDSENST00000542567ENST00000381997A2Mchr12

9230311

-PZPchr12

9311065

-
intron-intronENST00000542567ENST00000539983A2Mchr12

9230311

-PZPchr12

9311065

-
intron-3CDSENST00000318602ENST00000261336A2Mchr12

9230305

-PZPchr12

9311059

-
intron-3CDSENST00000318602ENST00000381997A2Mchr12

9230305

-PZPchr12

9311059

-
intron-intronENST00000318602ENST00000539983A2Mchr12

9230305

-PZPchr12

9311059

-
intron-3CDSENST00000542567ENST00000261336A2Mchr12

9230305

-PZPchr12

9311059

-
intron-3CDSENST00000542567ENST00000381997A2Mchr12

9230305

-PZPchr12

9311059

-
intron-intronENST00000542567ENST00000539983A2Mchr12

9230305

-PZPchr12

9311059

-
intron-3CDSENST00000318602ENST00000261336A2Mchr12

9230312

-PZPchr12

9311066

-
intron-3CDSENST00000318602ENST00000381997A2Mchr12

9230312

-PZPchr12

9311066

-
intron-intronENST00000318602ENST00000539983A2Mchr12

9230312

-PZPchr12

9311066

-
intron-3CDSENST00000542567ENST00000261336A2Mchr12

9230312

-PZPchr12

9311066

-
intron-3CDSENST00000542567ENST00000381997A2Mchr12

9230312

-PZPchr12

9311066

-
intron-intronENST00000542567ENST00000539983A2Mchr12

9230312

-PZPchr12

9311066

-
In-frameENST00000318602ENST00000261336A2Mchr12

9230297

-PZPchr12

9310437

-
In-frameENST00000318602ENST00000381997A2Mchr12

9230297

-PZPchr12

9310437

-
5CDS-intronENST00000318602ENST00000539983A2Mchr12

9230297

-PZPchr12

9310437

-
intron-3CDSENST00000542567ENST00000261336A2Mchr12

9230297

-PZPchr12

9310437

-
intron-3CDSENST00000542567ENST00000381997A2Mchr12

9230297

-PZPchr12

9310437

-
intron-intronENST00000542567ENST00000539983A2Mchr12

9230297

-PZPchr12

9310437

-
In-frameENST00000318602ENST00000261336A2Mchr12

9243797

-PZPchr12

9315244

-
In-frameENST00000318602ENST00000381997A2Mchr12

9243797

-PZPchr12

9315244

-
5CDS-5UTRENST00000318602ENST00000539983A2Mchr12

9243797

-PZPchr12

9315244

-
intron-3CDSENST00000542567ENST00000261336A2Mchr12

9243797

-PZPchr12

9315244

-
intron-3CDSENST00000542567ENST00000381997A2Mchr12

9243797

-PZPchr12

9315244

-
intron-5UTRENST00000542567ENST00000539983A2Mchr12

9243797

-PZPchr12

9315244

-

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 A2M-PZP


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 A2M-PZP


check button Go to

FGviewer for the breakpoints of chr12:9230297-chr12:9310437

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
A2M

P01023

.
FUNCTION: Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region, a thioester bond is hydrolyzed and mediates the covalent binding of the protein to the proteinase.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneA2Mchr12:9230297chr12:9310437ENST00000318602-2636690_7281092.01475.0RegionNote=Bait region
HgeneA2Mchr12:9230297chr12:9310437ENST00000318602-2636704_7091092.01475.0RegionNote=Inhibitory
HgeneA2Mchr12:9230297chr12:9310437ENST00000318602-2636719_7231092.01475.0RegionNote=Inhibitory
HgeneA2Mchr12:9230297chr12:9310437ENST00000318602-2636730_7351092.01475.0RegionNote=Inhibitory
HgeneA2Mchr12:9243797chr12:9315244ENST00000318602-1936690_728823.01475.0RegionNote=Bait region
HgeneA2Mchr12:9243797chr12:9315244ENST00000318602-1936704_709823.01475.0RegionNote=Inhibitory
HgeneA2Mchr12:9243797chr12:9315244ENST00000318602-1936719_723823.01475.0RegionNote=Inhibitory
HgeneA2Mchr12:9243797chr12:9315244ENST00000318602-1936730_735823.01475.0RegionNote=Inhibitory

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgenePZPchr12:9230297chr12:9310437ENST000002613362536685_7351098.01483.0RegionNote=Bait region
TgenePZPchr12:9230297chr12:9310437ENST000003819972031685_735884.01269.0RegionNote=Bait region
TgenePZPchr12:9243797chr12:9315244ENST000002613362036685_735912.01483.0RegionNote=Bait region
TgenePZPchr12:9243797chr12:9315244ENST000003819971531685_735698.01269.0RegionNote=Bait region


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Fusion Gene Sequence for A2M-PZP


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 A2M-PZP


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 A2M-PZP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneA2MP01023DB00515CisplatinSmall moleculeApproved
HgeneA2MP01023DB00515CisplatinSmall moleculeApproved
HgeneA2MP01023DB00515CisplatinSmall moleculeApproved
HgeneA2MP01023DB08888OcriplasminLigandBiotechApproved
HgeneA2MP01023DB08888OcriplasminLigandBiotechApproved
HgeneA2MP01023DB08888OcriplasminLigandBiotechApproved
HgeneA2MP01023DB14548Zinc sulfate, unspecified formLigandSmall moleculeApproved|Experimental
HgeneA2MP01023DB14548Zinc sulfate, unspecified formLigandSmall moleculeApproved|Experimental
HgeneA2MP01023DB14548Zinc sulfate, unspecified formLigandSmall moleculeApproved|Experimental
HgeneA2MP01023DB00102BecaplerminBiotechApproved|Investigational
HgeneA2MP01023DB00102BecaplerminBiotechApproved|Investigational
HgeneA2MP01023DB00102BecaplerminBiotechApproved|Investigational
HgeneA2MP01023DB01593ZincSmall moleculeApproved|Investigational
HgeneA2MP01023DB01593ZincSmall moleculeApproved|Investigational
HgeneA2MP01023DB01593ZincSmall moleculeApproved|Investigational
HgeneA2MP01023DB12965SilverBinderSmall moleculeApproved|Investigational
HgeneA2MP01023DB12965SilverBinderSmall moleculeApproved|Investigational
HgeneA2MP01023DB12965SilverBinderSmall moleculeApproved|Investigational
HgeneA2MP01023DB14487Zinc acetateSmall moleculeApproved|Investigational
HgeneA2MP01023DB14487Zinc acetateSmall moleculeApproved|Investigational
HgeneA2MP01023DB14487Zinc acetateSmall moleculeApproved|Investigational
HgeneA2MP01023DB14533Zinc chlorideLigandSmall moleculeApproved|Investigational
HgeneA2MP01023DB14533Zinc chlorideLigandSmall moleculeApproved|Investigational
HgeneA2MP01023DB14533Zinc chlorideLigandSmall moleculeApproved|Investigational
HgeneA2MP01023DB00626BacitracinInhibitorSmall moleculeApproved|Vet_approved
HgeneA2MP01023DB00626BacitracinInhibitorSmall moleculeApproved|Vet_approved
HgeneA2MP01023DB00626BacitracinInhibitorSmall moleculeApproved|Vet_approved

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Related Diseases for A2M-PZP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneA2MC0002395Alzheimer's Disease3CTD_human
HgeneA2MC0011265Presenile dementia3CTD_human
HgeneA2MC0276496Familial Alzheimer Disease (FAD)3CTD_human
HgeneA2MC0494463Alzheimer Disease, Late Onset3CTD_human
HgeneA2MC0546126Acute Confusional Senile Dementia3CTD_human
HgeneA2MC0750900Alzheimer's Disease, Focal Onset3CTD_human
HgeneA2MC0750901Alzheimer Disease, Early Onset3CTD_human
HgeneA2MC0011570Mental Depression2PSYGENET
HgeneA2MC0011581Depressive disorder2PSYGENET
HgeneA2MC0024121Lung Neoplasms2CTD_human
HgeneA2MC0242379Malignant neoplasm of lung2CTD_human
HgeneA2MC0007102Malignant tumor of colon1CTD_human
HgeneA2MC0009375Colonic Neoplasms1CTD_human
HgeneA2MC0019202Hepatolenticular Degeneration1CTD_human
HgeneA2MC0022660Kidney Failure, Acute1CTD_human
HgeneA2MC0023890Liver Cirrhosis1CTD_human
HgeneA2MC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneA2MC0024115Lung diseases1CTD_human
HgeneA2MC0027726Nephrotic Syndrome1CTD_human
HgeneA2MC0206669Hepatocellular Adenoma1CTD_human
HgeneA2MC0239946Fibrosis, Liver1CTD_human
HgeneA2MC1527352Hepatic Form of Wilson Disease1CTD_human
HgeneA2MC1565662Acute Kidney Insufficiency1CTD_human
HgeneA2MC2239176Liver carcinoma1CTD_human
HgeneA2MC2609414Acute kidney injury1CTD_human
TgenePZPC0019193Hepatitis, Toxic1CTD_human
TgenePZPC0860207Drug-Induced Liver Disease1CTD_human
TgenePZPC1262760Hepatitis, Drug-Induced1CTD_human
TgenePZPC2239176Liver carcinoma1CTD_human
TgenePZPC3658290Drug-Induced Acute Liver Injury1CTD_human
TgenePZPC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgenePZPC4279912Chemically-Induced Liver Toxicity1CTD_human