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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:AMZ2-SCAP (FusionGDB2 ID:4369)

Fusion Gene Summary for AMZ2-SCAP

check button Fusion gene summary
Fusion gene informationFusion gene name: AMZ2-SCAP
Fusion gene ID: 4369
HgeneTgene
Gene symbol

AMZ2

SCAP

Gene ID

51321

22937

Gene namearchaelysin family metallopeptidase 2SREBF chaperone
Synonyms--
Cytomap

17q24.2

3p21.31

Type of geneprotein-codingprotein-coding
Descriptionarchaemetzincin-2archaemetzincins-2archeobacterial metalloproteinase-like protein 2sterol regulatory element-binding protein cleavage-activating proteinSREBP cleavage-activating protein
Modification date2020031320200313
UniProtAcc

Q86W34

.
Ensembl transtripts involved in fusion geneENST00000359904, ENST00000580753, 
ENST00000392720, ENST00000359783, 
ENST00000577866, ENST00000585050, 
ENST00000577985, ENST00000577273, 
ENST00000265565, ENST00000441517, 
ENST00000545718, ENST00000465628, 
Fusion gene scores* DoF score4 X 3 X 3=369 X 7 X 3=189
# samples 410
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(10/189*10)=-0.918386234446348
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AMZ2 [Title/Abstract] AND SCAP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAMZ2(66251930)-SCAP(47455468), # samples:1
Anticipated loss of major functional domain due to fusion event.AMZ2-SCAP seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
AMZ2-SCAP seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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 AMZ2 (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 SCAP (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/ABG254511AMZ2chr17

66251930

+SCAPchr3

47455468

-


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Fusion Gene ORF analysis for AMZ2-SCAP

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
Frame-shiftENST00000359904ENST00000265565AMZ2chr17

66251930

+SCAPchr3

47455468

-
Frame-shiftENST00000359904ENST00000441517AMZ2chr17

66251930

+SCAPchr3

47455468

-
Frame-shiftENST00000359904ENST00000545718AMZ2chr17

66251930

+SCAPchr3

47455468

-
5CDS-intronENST00000359904ENST00000465628AMZ2chr17

66251930

+SCAPchr3

47455468

-
Frame-shiftENST00000580753ENST00000265565AMZ2chr17

66251930

+SCAPchr3

47455468

-
Frame-shiftENST00000580753ENST00000441517AMZ2chr17

66251930

+SCAPchr3

47455468

-
Frame-shiftENST00000580753ENST00000545718AMZ2chr17

66251930

+SCAPchr3

47455468

-
5CDS-intronENST00000580753ENST00000465628AMZ2chr17

66251930

+SCAPchr3

47455468

-
Frame-shiftENST00000392720ENST00000265565AMZ2chr17

66251930

+SCAPchr3

47455468

-
Frame-shiftENST00000392720ENST00000441517AMZ2chr17

66251930

+SCAPchr3

47455468

-
Frame-shiftENST00000392720ENST00000545718AMZ2chr17

66251930

+SCAPchr3

47455468

-
5CDS-intronENST00000392720ENST00000465628AMZ2chr17

66251930

+SCAPchr3

47455468

-
Frame-shiftENST00000359783ENST00000265565AMZ2chr17

66251930

+SCAPchr3

47455468

-
Frame-shiftENST00000359783ENST00000441517AMZ2chr17

66251930

+SCAPchr3

47455468

-
Frame-shiftENST00000359783ENST00000545718AMZ2chr17

66251930

+SCAPchr3

47455468

-
5CDS-intronENST00000359783ENST00000465628AMZ2chr17

66251930

+SCAPchr3

47455468

-
Frame-shiftENST00000577866ENST00000265565AMZ2chr17

66251930

+SCAPchr3

47455468

-
Frame-shiftENST00000577866ENST00000441517AMZ2chr17

66251930

+SCAPchr3

47455468

-
Frame-shiftENST00000577866ENST00000545718AMZ2chr17

66251930

+SCAPchr3

47455468

-
5CDS-intronENST00000577866ENST00000465628AMZ2chr17

66251930

+SCAPchr3

47455468

-
intron-3CDSENST00000585050ENST00000265565AMZ2chr17

66251930

+SCAPchr3

47455468

-
intron-3CDSENST00000585050ENST00000441517AMZ2chr17

66251930

+SCAPchr3

47455468

-
intron-3CDSENST00000585050ENST00000545718AMZ2chr17

66251930

+SCAPchr3

47455468

-
intron-intronENST00000585050ENST00000465628AMZ2chr17

66251930

+SCAPchr3

47455468

-
Frame-shiftENST00000577985ENST00000265565AMZ2chr17

66251930

+SCAPchr3

47455468

-
Frame-shiftENST00000577985ENST00000441517AMZ2chr17

66251930

+SCAPchr3

47455468

-
Frame-shiftENST00000577985ENST00000545718AMZ2chr17

66251930

+SCAPchr3

47455468

-
5CDS-intronENST00000577985ENST00000465628AMZ2chr17

66251930

+SCAPchr3

47455468

-
intron-3CDSENST00000577273ENST00000265565AMZ2chr17

66251930

+SCAPchr3

47455468

-
intron-3CDSENST00000577273ENST00000441517AMZ2chr17

66251930

+SCAPchr3

47455468

-
intron-3CDSENST00000577273ENST00000545718AMZ2chr17

66251930

+SCAPchr3

47455468

-
intron-intronENST00000577273ENST00000465628AMZ2chr17

66251930

+SCAPchr3

47455468

-

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 AMZ2-SCAP


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 AMZ2-SCAP


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
AMZ2

Q86W34

.
FUNCTION: Zinc metalloprotease. Exhibits activity against angiotensin-3 in vitro. Does not hydrolyze either neurogranin or angiotensin-2. {ECO:0000269|PubMed:15972818}.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

- 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 AMZ2-SCAP


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 AMZ2-SCAP


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 AMZ2-SCAP


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 AMZ2-SCAP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSCAPC2239176Liver carcinoma1CTD_human